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1
Singh, Nagendra Kumar. "The structure and genetic control of endosperm proteins in wheat and rye". Title page, contents and abstract only, 1985. http://web4.library.adelaide.edu.au/theses/09PH/09phs6174.pdf.
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2
Horn, Marizanne. "Transfer of genetic resistance to the Russian wheat aphid from rye to wheat". Thesis, Stellenbosch : Stellenbosch University, 1997. http://hdl.handle.net/10019.1/55770.
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Thesis (MSc.) -- Stellenbosch University, 1997.ENGLISH ABSTRACT: An octoploid triticale was derived from the F1 of a Russian wheat aphid resistant rye, 'Turkey 77', and 'Chinese Spring' wheat. The alloploid was crossed (a) to common wheat, and (b) to the 'Imperial' rye to 'Chinese Spring' disomic addition lines. F2 progeny from these crosses were tested for Russian wheat aphid resistance and C-banded. Resistance was found to be associated with chromosome arm 1RS of the 'Turkey 77' rye genome. This initial work was done by MARAIS (1991) who made a RWA resistant, monotelosomic 1RS ('Turkey 77') addition plant available for the study. The F3 progeny of this monotelosomic addition plant was used to confirm the RWA resistance on chromosome 1RS. The monotelosomic addition plant was then crossed with the wheat cultivar 'Gamtoos', which has the 1BL.1 RS 'Veery' translocation. Unlike the 1RS segment in 'Gamtoos', the 'Turkey 77'- derived 1RS telosome did not express the rust resistance genes 5r31 and Lr26 which could then be used as markers. From the F1 a monotelosomic 1RS addition plant that was also heterozygous for the 1BL.1 RS translocation, was selected and testcrossed with an aphid susceptible common wheat, 'Inia 66'. Meiotic pairing between the .rye arms resulted in the recovery of five euploid, Russian wheat aphid resistant plants out of a progeny of 99 euploids. One recombinant also retained 5r31 and Lr26 and was allowed to self pollinate. With the aid of SOS-PAGE profiles, Russian wheat aphid resistant 1BL.1 RS translocation homozygotes were identified and it was possible to confirm that the Russian wheat aphid resistance gene was in fact transferred to the 1BL.1RS ('Veery') translocation. Two attempts were made to map the Russiar, wheat aphid locus or loci. (1) Telosomic mapping was attempted. For this purpose a plant with 2n = 40 + 1BL.1 RS + 1RS was obtained, and testcrossed with a Russian wheat aphid susceptible wheat. (2) A disomic, recombined 1BL.1 RS translocation line with Russian wheat aphid resistance but lacking the Lr26 and Sr31 alleles was crossed with 'Gamtoos' and the F1 testcrossed. The testcross in both strategies were done with 'Chinese Spring'. In the first experiment the Sr31 locus was located 10.42 map units from the Lr26 locus. The rust resistance data implied that the genetic distance estimates may be unreliable and therefore the laborious Russian wheat aphid resistance tests were not done. In the second experiment a Russian wheat aphid resistance gene was located 14.5 map units from the Lr26 locus. In the latter cross nonmendel ian segregation of the Russian wheat aphid resistance evidently occurred which implied that the estimated map distance may be inaccurate. It was also not possible to determine the number of genes involved from the data.
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AFRIKAANSE OPSOMMING: 'n Oktaplo"lede triticale is gemaak vanaf die F1 van 'n kruising tussen 'n Russiese koringluis-weerstandbiedende rog, 'Turkey 77', en die koringkultivar 'Chinese Spring'. Die alloplo"led is gekruis met gewone broodkoring en met 'Imperial' rog/'Chinese Spring' disomiese addissielyne. Die F2 nageslag vanaf hierdie kruisings is getoets vir Russiese koringluisweerstandbiedendheid en C-bande is ook gedoen. Weerstand is gevind wat geassosieer is met die 1RS chromosoomarm van 'Turkey 77'. Hierdie oorspronklike werk is deur MARAIS (1991) gedoen en uit sy materiaal is 'n monotelosomiese 1RS ('Turkey 77') addissieplant beskikbaar gestel vir die huidige studie. Die F3 nageslag van hierdie monotelosomiese addissieplant is gebruik om die weerstand teen die Russiese koringluis op chromosoom 1RS te bevestig. Die monotelosomiese addissieplant is ook gekruis met die koringkultivar 'Gamtoos' wat die 1BL.1 RS-translokasie dra. Hoewel die 1RS segment van 'Gamtoos' die roesweerstandsgene, Sr31 en Lr26 uitdruk, is dit nie die geval met die 'Turkey 77' 1RS telosoom nie. Hierdie gene kon dus as merkergene gebruik word. Vanuit die F1 is 'n monotelosomiese 1RS addissieplant geselekteer wat ook heterosigoties was vir die 1BL.1 RStranslokasie. Hierdie plant is getoetskruis met 'n luisvatbare gewone broodkoring, 'Inia 66'. Meiotiese paring tussen die rogarms het daartoe gelei dat vyf euplo"lede Russiese koringluis-weerstandbiedende nageslag uit 99 euplo"lede nageslag geselekteer kon word. Een rekombinant het ook Sr31 en Lr26 behou en is toegelaat om self te bestuif. Met behulp van SDSPAGE profiele is Russiese koringluis-weerstandbiedende 1BL.1 RStranslokasie homosigote ge"ldentifiseer en kon bevestig word dat die weerstandsgeen vir die Russiese koringluis oorgedra is na die 1BL.1 RS ('Veery') -translokasie. Twee strategies is gevolg om die Russiese koringluislokus of -loci te karteer: (1) 'n Telosomiese analise is gedoen. 'n Plant met 2n = 40 + 1BL.1 RS + 1RS is verkry en met 'n luisvatbare koring bestuif. (2) 'n Gerekombineerde, disomiese plant met Russiese koringluis-weerstandbiedendheid maar sonder die Lr26 en Sr31 allele is gekruis met 'Gamtoos' en die F1 getoetskruis. Die toetskruisouer in beide die strategiee was 'Chinese Spring'. In die eerste eksperiment is die Sr31-lokus 10.42 kaarteenhede vanaf die Lr26-lokus gelokaliseer. Die raesdata het ge"impliseer dat onbetraubare genetiese kaarteenhede geskat sou word en daarom is die omslagtige Russiese koringluis weerstandsbepalings nie gedoen nie. In die tweede eksperiment is die Russiese koringluis-weerstandsgeen op 14.5 kaarteenhede vanaf die Lr26-lokus gelokaliseer. Nie-Mendeliese segregasie van die Russiese koringluis-weerstand in hierdie karteringseksperiment het ge'impliseer dat die berekende kaartafstand onakkuraat mag wees. Dit was ook nie moontlik om op grand van die data die aantal gene betrakke af te lei nie.
3
Neves, Nuno Alberto Fernandes Ferreira Neves. "Genomic interactions in wheat-rye hybrids : nucleolar dominance, DNA methylation and chromatin topology". Thesis, University of East Anglia, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317976.
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4
Alderson, Alison Louise. "Sequence analysis and molecular cloning of enzyme inhibitors from seeds of rye (Secale cereale L.)". Thesis, Durham University, 1990. http://etheses.dur.ac.uk/6613/.
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Inhibitors of trypsin (EC 3.4.21.4) and a-amylase (1,4-a-D-glucan glucanohydrolase, EC 3.2.1.1) were purified from seeds of rye and their complete and partial amino-acid sequences, respectively, were determined, in part by homology. The trypsin inhibitor was a single polypeptide chain of Mr 13753. Both proteins exhibited sequence homology with a group of cereal seed proteins that include inhibitors of proteinases and a-amylase. The trypsin inhibitor was most closely related to the barley trypsin inhibitor (76% identity) and the a-amylase inhibitor to CMa of barley (also an inhibitor of a-amylase activity) and to CMl1and CM2 of wheat (no known inhibitory activity). Antisera raised against the two inhibitors did not cross react, but the a-amylase inhibitor reacted with an antiserum raised against the 0.28 a-amylase inhibitor of wheat. The rye inhibitors had similar secondary structure contents with about 36-39% a-helix and 11-19% 13-sheet. These are the first amino-acid sequence and conformation studies reported for enzyme inhibitors from rye. Poly(A)-rich RNA from total polysomes, prepared from rye endosperms, was used as a template for cDNA synthesis and a cDNA library was constructed in AgtlO. The library was screened using two oligonucleotide probes which encoded two regions of the trypsin inhibitor (from amino-acids 38-42 and 44-48).One clone was isolated that hybridised to both probes. The nucleotide sequence of the clone AC(C.In) was determined. 1709 bp were sequenced showing an open reading frame that extended from the 5' end to 1621 and encoded a protein of 540 residues. The predicted amino-acid sequence showed striking sequence similarity to the serine/threonine SNFl subfamily of protein kinases with 62% and 48% identity, respectively, to the catalytic domains of SNFl and niml(^+). The functions of the SNFl subfamily are discussed.
5
Jacobs, Johan Adolf. "Karakterisering van derivate uit 'n Thinopyrum distichum X tetraploïede rog kruising". Thesis, Stellenbosch : Stellenbosch University, 2002. http://hdl.handle.net/10019.1/52904.
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Thesis (MSc)--University of Stellenbosch, 2002.ENGLISH ABSTRACT: Soil salinity is a major limiting factor of plant and crop growth, because the absorption of water and nutrients is such a complex process while low and moderate salinity are omnipresent. Plant growth is affected negatively if a specific ion concentration exceeds its threshold and becomes toxic. The detrimental effect of soil affected by salt on crop production is increasing worldwide (Tanji, 1990). The level to which plants can tolerate high salinity levels is genetically controlled with several physiological and genetic mechanisms contributing to salt tolerance (Epstein & Rains, 1987). The most effective way of addressing the limitations of crop productivity in saline areas, is the development of salt tolerant varieties. Understanding the genetics of salt tolerance is, therefore, necessary for the development of an effective breeding strategy for salt tolerance. The department of Genetics (US) conducts a wide crosses research programme aiming to transfer genes for salt tolerance to wheat and triticale. The donor species, Thinopyrum disticum, an indigenous coastal wheat grass, adapted to high concentrations of salt, was crossed with cultivated rye (Secale cereale) in an attempt to study the genetics of salt tolerance (Marais et al., 1998). The primary goal of this study was to find molecular markers (RAPD and AFLP) which associate with chromosomes promoting salt tolerance for later attempts to transfer the genes to triticale. Seventy clones of secondary hybrids (Th disticum /4x-rye 1/2x-rye) were tested for salt tolerance and showed different levels of salt tolerance. RAPD-marker analyses were used to identify polymorphisms between salt tolerant and salt sensitive plants. Twelve RAPD primers produced clear, analyzable and repetitive polymorphic . fragments that can be used as useful markers. Different AFLP-primer combinations were tested against the genotypes of 15 clones (Marais & Marais 2001, unpublished data) and produced approximately 2000 clearly distinguishable AFLP fragments, of which 54 (3%) were polymorphic fragments. Two RAPD fragments and 4 AFLP fragments that can be used as possible markers for the presence of chromosomes that contribute to salt tolerance were identified. The interpretation of the markers was complicated by heterogeneity among plants with regard to the origin of their chromosomes and the genetic diversity of the rye genome. It is also possible that chromosome re-arrangement took place during backcrossing, which could have complicated the data.
AFRIKAANSE OPSOMMING: Versouting is een van die groot beperkende faktore op plant- en gewasgroei, omdat die opname van water en voedingstowwe so In ingewikkelde proses is en die effek van lae of matige versouting so alomteenwoordig is. Plantgroei word nadelig geaffekteer as 'n spesifieke ioonkonsentrasie sy drempelwaarde oorskry en toksies word. Die nadelige effek van soutgeaffekteerde grond op gewasproduksie, is wêreldwyd aan die toeneem (Tanji, 1990). Die vlak waartoe plante hoë konsentrasies sout kan hanteer is onder genetiese beheer met verskeie fisiologiese en genetiese meganismes wat 'n bydrae maak tot soutverdraagsaamheid (Epstein & Rains, 1987). Die mees effektiewe manier om die beperkinge op gewas produktiwiteit in versoute gebiede te oorkom, is die ontwikkeling van soutverdraagsame variëteite. Begrip van die genetika van soutverdraagsaamheid is dus noodsaaklik vir die ontwikkeling van In effektiewe telingsstrategie. Die departement Genetika (US) bedryf tans 'n wye-kruisings navorsingsprogram waarmee gepoog word om gene vir soutverdraagsaamheid na korog en koring oor te dra. Die skenkerspesie, Thinopyrum disticum, In inheemse strandkoringgras wat aangepas is by hoë konsentrasies sout, is gekruis met verboude rog (Secale cereale) in 'n poging om die oorerwing van soutverdraagsaamheid te bestudeer (Marais et al., 1998). Die hoofdoel van hierdie studie was om molekulêre merkers (RAPD en AFLP) te vind, wat assosieer met chromosome wat soutverdraagsaamheid bevorder en om nuttige merkers daar te stel vir latere pogings om die gene na korog en koring oor te dra. Ongeveer 70 klone van sekondêre hibriede (Th distichum I 4x-rog /I 2x-rog) is onderwerp aan souttoetse en het verskillende grade van soutverdraagsaamheid getoon. RAPDmerker analise is gebruik om polimorfismes te identifiseer tussen soutverdraagsame en soutsensitiewe plante. Twaalf RAPD inleiers het duidelike, ontleedbare en herhalende polimorfiese fragmente opgelewer en moontlike nuttige merkers uitgewys. Verskillende AFLP-inleier kombinasies, wat getoets is teen die genotipes van 15 klone (Marais & Marais, 2001 ongepubliseerde data) het ongeveer 2000 duidelik onderskeibare AFLP fragmente geproduseer, waarvan 54 (3%) polimorfiese fragmente was. Twee RAPD fragmente en 4 AFLP fragmente is geïdentifiseer wat as moontlike kandidaat merkers gebruik kan word vir die identifisering van chromosome wat bydra tot soutverdraagsaamheid . Die interpretasie van die merkers is bemoeilik deur heterogeniteit tussen die plante wat betref die agtergrond van chromosome wat hulle besit en die genetiese diversiteit van die rog genoom. Dit is ook moontlik dat chromosoom herrangskikking plaasgevind het tydens terugkruising, wat die data verder kon kompliseer.
6
Rodriguez, Miguel A. "Molecular genetic approaches to the study of aluminum tolerance and toxicity in wheat and rye /". free to MU campus, to others for purchase, 2002. http://wwwlib.umi.com/cr/mo/fullcit?p3060136.
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7
Coetzee, Kim. "Evaluation of the crossability between small grains". Thesis, Stellenbosch : Stellenbosch University, 2011. http://hdl.handle.net/10019.1/17796.
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8
Sharma, Sundrish. "Characterization of quantitative loci for morphological and anatomical root traits on the short arm of chromosome 1 of rye in bread wheat". Diss., [Riverside, Calif.] : University of California, Riverside, 2009. http://proquest.umi.com/pqdweb?index=0&did=1899491951&SrchMode=2&sid=1&Fmt=2&VInst=PROD&VType=PQD&RQT=309&VName=PQD&TS=1269025605&clientId=48051.
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Thesis (Ph. D.)--University of California, Riverside, 2009.Includes abstract. Title from first page of PDF file (viewed March 18, 2010). Includes bibliographical references. Issued in print and online. Available via ProQuest Digital Dissertations.
9
Gyawali, Yadav Prasad. "Cytological dissection and genetic analysis of rye chromosome 1R". Kyoto University, 2010. http://hdl.handle.net/2433/131902.
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Kyoto University (京都大学)0048
新制・課程博士
博士(農学)
甲第15732号
農博第1844号
新制||農||984(附属図書館)
学位論文||H22||N4467(農学部図書室)
28277
京都大学大学院農学研究科応用生物科学専攻
(主査)教授 遠藤 隆, 教授 奥野 哲郎, 准教授 中﨑 鉄也
学位規則第4条第1項該当
10
Curtis, Tanya Yordanova. "Genetic and environmental factors controlling acrylamide formation in wheat and rye products". Thesis, University of Reading, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.559366.
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Acrylamide formation in cooked food has become a significant problem for the food industry. This study concerned the accumulation of free asparagine, one of the precursors for acrylamide formation, in wheat and rye grain. Asparagine concentration was found to be greatly affected by environmental conditions (E), genetic factors (G) and the interaction between the two (G x E). One of the environmental conditions controlling free asparagine accumulation in wheat grain was sulphur deficiency, which caused an increase of up to thirty-fold in free asparagine concentration. Sulphur deficiency and free asparagine concentration were linearly related to the amount of acrylamide that formed when wheat flour was heated at 180°C. Asparagine concentration was also the main determinant of acrylamide formation in rye but, unlike in wheat, it was not affected by sulphur availability, at least under field conditions. Rye flour had lower acrylamide forming potential than wheat per unit of asparagine, possibly due to different concentrations of other free amino acids in the grain (proline). Quantitative trait loci (QTL) for free asparagine concentration and therefore acrylamide risk were found on chromosomes 18, 2A and 7A. QTL were also identified for alanine, glutamine, glycine, lysine, proline, serine, threonine, tryptophan and tyrosine possibly aided by the environmental factors. A cluster of these QTL was located on chromosome 3A in an area associated with the control of wheat yield. Matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy (MALDI- TOF-MS) was used to show the distribution of asparagine in developing wheat grain fourteen days post anthesis. In grain from plants grown under normal conditions, most free asparagine was in the embryo and aleurone layer (bran fraction), while in grain from plants grown under sulphur deficient conditions there was great accumulation of free asparagine in the endosperm (white flour fraction). Reduction of acrylamide content could be achieved immediately by selection of low acrylamide risk varieties for cultivation and avoidance of sulphur deficiency in wheat. Further improvement could be made by breeding new, low asparagine varieties based on the QTL analyses.
11
Taylor, Christopher. "Cytogenetic and molecular genetic markers for chromosome 6R of rye linked to CCN resistance /". Title page, contents and summary only, 1996. http://web4.library.adelaide.edu.au/theses/09PH/09pht239.pdf.
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12
Tsvetkov, Kamen Stoyanov. "INTRODUCTION OF RYE CHROMOSOMAL SEGMENTS INTO COMMON WHEAT BY MEANS OF GENETIC GENOME REARRANGEMENT". Kyoto University, 1999. http://hdl.handle.net/2433/181367.
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Kyoto University (京都大学)0048
新制・課程博士
博士(農学)
甲第7961号
農博第1070号
新制||農||785(附属図書館)
学位論文||H11||N3295(農学部図書室)
UT51-99-M266
京都大学大学院農学研究科応用生物科学専攻
(主査)教授 遠藤 隆, 教授 大西 近江, 教授 池橋 宏
学位規則第4条第1項該当
13
Persson, Karin. "Genetic diversity in landraces of rye (Secale cereale L.) and turnip (Brassica rapa L. ssp. rapa) from the Nordic area /". Alnarp : Swedish Univ. of Agricultural Sciences (Sveriges lantbruksuniv.), 2000. http://epsilon.slu.se/avh/2000/91-576-5773-4.pdf.
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14
Song, Weining. "Genome studies of cereals /". Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phs6984.pdf.
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15
Spencer, Samantha A. "The Role of tfec in Zebrafish Neural Crest Cell and RPE Development". VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3754.
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Zebrafish (Danio rerio) show a unique pigmentation pattern comprised of three pigment cell types: melanophores, iridophores and xanthophores. Other pigmented cells include the retinal pigmented epithelium (rpe) which absorbs excess light in the eye and maintain the extracellular environment around the photoreceptors. While previous mutations in mitfa showed a role in regulating trunk melanophores, the rpe was not affected. TALENs and CRISPR-Cas9 systems were used to generate mutant zebrafish for tfec, a transcription factor expressed in both neural crest and rpe. Embryos with tfec mutations showed a loss of iridophore pigmentation, and delays in the pigmentation of xanthophores and rpe, showing positive regulation of multiple pigment cells. Double mutants for tfec and mitfa displayed greater losses of iridophore, xanthophore and rpe pigmentation with noncircular globes, suggesting cooperative roles for these transcription factors.
16
Hewison, Aidan Jonathan Mark. "The reproductive performance of roe deer in relation to environmental and genetic factors". Thesis, University of Southampton, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.333990.
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17
Fazendeiro, Marta Sofia Pereira Pingarilho. "DNA damage induced by acrylamide: roe of genetic polymorphisms in DNA damage levels". Doctoral thesis, Faculdade de Ciências Médicas. UNL, 2013. http://hdl.handle.net/10362/10000.
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RESUMO:Em 1994 a acrilamida (AA) foi classificada pela IARC como um provável cancerígeno para o homem. Para além da utilização de AA em numerosas aplicações industriais, a AA está também presente numa grande variedade de alimentos ricos em amido e processados a temperaturas elevadas. Esta exposição através da ingestão de produtos alimentares despoletou elevadas preocupações ao nível do risco para a saúde pública e poderá implicar um risco adicional para o aparecimento de cancro. A glicidamida (GA), o metabolito epóxido formado a partir da oxidação da AA provavelmente através do citocromo P450 2E1, é considerada por vários estudos, o principal responsável pela carcinogenicidade da AA.
Actualmente existe uma escassez de resultados relativamente aos mecanismos de genotoxicidade da AA e GA em células de mamífero. Por este motivo, o objectivo deste estudo centra-se na avaliação das consequências genéticas da exposição à AA e GA, recorrendo-se para tal ao uso de células de mamífero como modelo.
Tendo como base este objectivo avaliou-se a citotoxicidade da AA e GA, através do ensaio do MTT, e realizaram-se dois testes citogenéticos, o teste das aberrações cromossómicas (CAs) e o teste da troca de cromátides irmãs (SCEs), de modo a avaliar as lesões de DNA induzidas por estes compostos em células de hamster Chinês V79. Os resultados globalmente mostraram que a GA é mais citotóxica e clastogénica do que a AA.
No âmbito deste trabalho, foi também efectuada a quantificação de aductos específicos de DNA, nomeadamente N7-(2-carbamoil-2-hidroxietil)guanina (N7-GA-Gua) e N3-(2-carbamoil-2-hidroxietil)adenina (N3-GA-Ade). Os resultados obtidos permitem afirmar que os níveis de N7-GA-Gua e a concentração de GA apresentam uma relação linear dose-resposta. Foi também identificada uma óptima correlação entre os níveis de N7-GA-Gua e a frequência de troca de cromátides irmãs.
Adicionalmente, e de forma a compreender os mecanismos de toxicidade da AA, estudaram-se os mecanismos dependentes da modulação do glutationo reduzido (GSH), nomeadamente da butionina sulfoximina (BSO), um inibidor da síntese de GSH, do GSH-monoetil estér (GSH-EE), um composto permeável nas células e que é intra-celularmente hidrolisado a GSH e ainda do GSH adicionado exogenamente ao meio de cultura, em células V79. Os resultados obtidos reforçaram o papel da modulação do GSH nos efeitos de citotoxicidade e clastogenicidade da AA.
Para além dos estudos efetuados com células V79, procedeu-se também à determinação da frequência de SCEs, à quantificação de aductos específicos de DNA, bem como ao ensaio do cometa alcalino em amostras de dadores saudáveis expostos à AA e GA. Tanto os resultados obtidos através do ensaio das SCE, como pela quantificação de aductos específicos de DNA, ambos efectuados em linfócitos estimulados, originaram resultados comparáveis aos obtidos anteriormente para as células V79, reforçando a ideia de que a GA é bastante mais genotóxica do que a AA. Por outro lado, os resultados obtidos pelo ensaio do cometa para exposição à AA e GA mostraram que apenas esta última aumenta o nível das lesões de DNA.
Outro objectivo deste trabalho, foi a identificação de possíveis associações existentes entre as lesões de DNA, quantificadas através do ensaio das SCEs e do cometa, e biomarcadores de susceptibilidade, tendo em conta os polimorfismos genéticos individuais envolvidos na destoxificação e nas vias de reparação do DNA (BER, NER, HRR e NHEJ) em linfócitos expostos à GA. Tal permitiu identificar associações entre os níveis de lesão de DNA determinados através do ensaio das SCEs, e os polimorfismos genéticos estudados, apontando para uma possível associação entre o GSTP1 (Ile105Val) e GSTA2 (Glu210Ala) e a frequência de SCEs. Por outro lado, os resultados obtidos através do ensaio do cometa sugerem uma associação entre as lesões de DNA e polimorfismos da via BER (MUTYH Gln335His e XRCC1 Gln39Arg) e da via NER (XPC Ala499val e Lys939Gln), considerando os genes isoladamente ou combinados.
Estes estudos contribuem para um melhor entendimento da genotoxicidade e carcinogenicidade da AA e GA em células de mamífero, bem como da variabilidade da susceptibilidade individual na destoxificação e reparação de lesões de DNA provocadas pela exposição a estes xenobióticos alimentares. ----------- ABSTRACT:Acrylamide (AA) has been classified as a probable human carcinogen by IARC. Besides being used in numerous industrial applications, AA is also present in a variety of starchy cooked foods. This AA exposure scenario raised concerns about risk in human health and suggests that the oral consumption of AA is an additional risk factor for cancer. A considerable number of findings strongly suggest that the reactive metabolite glycidamide (GA), an epoxide generated presumably by cytochrome P450 2E1, plays a central role in AA carcinogenesis.
Until now there are a scarcity of results concerning the mechanisms of genotoxicity of AA and GA in mammalian cells. In view of that, the study described in this thesis aims to unveil the genetic consequences of AA and GA exposure using mammalian cells as a model system.
With this aim we evaluated the cytotoxicity of AA and GA using the MTT assay and subsequently performed two cytogenetic end-points: chromosomal aberrations (CAs) and sister chromatid exchanges (SCEs), in order to evaluate DNA damage induced by these compounds in V79 Chinese hamster cell line. The results showed that GA was more cytotoxic and clastogenic than AA.
Within the scope of this thesis the quantification of specific DNA adducts were also performed, namely N7-(2-carbamoyl-2-hydroxyethyl)guanine (N7-GA-Gua) and N3-(2-carbamoyl-2-hydroxyethyl)adenine (N3-GA-Ade). Interestingly, the GA concentration and the levels of N7-GA-Gua presented a linear dose-response relationship. Further, a very good correlation between the levels of N7-GA-Gua and the extent of SCEs were observed.
In order to understand the mechanisms of AA-induced toxicity, the modulation of reduced glutathione (GSH)-dependent mechanisms were studied, namely the evaluation of the effect of buthionine sulfoximine (BSO), an effective inhibitor of GSH synthesis, of GSH-monoethyl ester (GSH-EE), a cell permeable compound that is intracellularly hydrolysed to GSH and also of GSH endogenously added to culture medium,z in V79 cell line. The overall results reinforced the role of GSH in the modulation of the cytotoxic and clastogenic effects induced by AA.Complementary to the studies performed in V79 cells, SCEs, specific DNA-adducts and alkaline comet assay in lymphocytes from healthy donors exposed to AA and GA were also evaluated. Both, the frequency of SCE and the quantification of specific GA DNA adducts, produced comparable results with those obtained in V79 cell line, reinforcing the idea that GA is far more genotoxic than AA. Further, the DNA damaging potential of AA and GA in whole blood leukocytes evaluated by the alkaline comet assay, showed that GA, but not AA, increases DNA damage.
Additionally, this study aimed to identify associations between DNA damage and biomarkers of susceptibility, concerning individual genetic polymorphisms involved in detoxification and DNA repair pathways (BER, NER, HRR and NHEJ) on the GA-induced genotoxicity assessed by the SCE assay and by the alkaline comet assay. The extent of DNA damage determined by the levels of SCEs induced by GA seems to be modulated by GSTP1 (Ile105Val) and GSTA2 (Glu210Ala) genotypes. Moreover, the results obtained from the comet assay suggested associations between DNA damage and polymorphisms of BER (MUTYH Gln335His and XRCC1 Gln399Arg) and NER (XPC Ala499Val and Lys939Gln) genes, either alone or in combination.
The overall results from this study contribute to a better understanding of the genotoxicity and carcinogenicity of AA and GA in mammalian cells, as well as the knowledge about the variability in individual susceptibility involved in detoxification and repair of DNA damage due to these dietary xenobiotics.
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Lane, Brandon. "Otx but not Mitf transcription factors are required for zebrafish RPE development". VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/2839.
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Mitf and Otx transcription factors have been identified as essential to the development of the retinal pigmented epithelium (RPE), but the relationship between these factors and their specific role in the RPE developmental pathway have not been clearly defined. The role of the two Mitf transcription factors (Mitfa and Mitfb) and two Otx transcription factors (Otx1a and Otx2) in zebrafish RPE development was explored in these experiments. The loss of Mitf activity in mitfa, mitfb, or double mitf null mutant fish lines had no effect on RPE pigmentation or development. The loss of Otx2 activity through morpholino knockdown produced a RPE deficient phenotype in a small percentage of embryos, while the additional knockdown of Otx1a caused widespread and severe RPE developmental abnormalities. Analysis of ocular sections revealed that the retinal layers remain unaffected in mitf mutants, as well as in most RPE-deficient otx morphants. Mitf and Otx combined loss of function experiments suggest that Mitfa and Mitfb may still play a role in zebrafish RPE development. Expression analysis through in situ hybridization has demonstrated that Otx transcription factors are necessary for the proper expression of mitfa and mitfb while Mitf transcriptions factors are not required for the expression of otx genes. The transcriptional regulation of Mitf by Otx transcription factors may explain why only Otx transcription factors are necessary for zebrafish RPE development despite the somewhat overlapping functions of Mitf and Otx transcription factors.
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Popelka, Herzfeld Juan Carlos. "Development of a genetic transformation protocol for rye (Secale cereale L.) and characterisation of transgene expression after biolistic or Agrobacterium mediated gene transfer". [S.l. : s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=964315939.
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陳志偉 e Chi-wai Michael Chan. "Characterization and regulation of expression of tyrosine kinase receptors rse, axl, mer and their ligand gas6 in the testis". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1998. http://hub.hku.hk/bib/B31220332.
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Kopplin, Laura J. "The Identification of Genetic Risk Factors for Age-Related Macular Degeneration". Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1251752708.
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Erath, Wiltrud Renate [Verfasser], Chris-Carolin [Akademischer Betreuer] Schön, Chris-Carolin [Gutachter] Schön e Thomas [Gutachter] Miedaner. "Exploring new alleles for frost tolerance in winter rye using genetic resources / Wiltrud Renate Erath ; Gutachter: Chris-Carolin Schön, Thomas Miedaner ; Betreuer: Chris-Carolin Schön". München : Universitätsbibliothek der TU München, 2018. http://d-nb.info/1165227320/34.
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Baker, Karis Helen. "Population genetic history of the British roe deer (Capreolus capreolus) and its implications for diversity and fitness". Thesis, Durham University, 2011. http://etheses.dur.ac.uk/897/.
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The first part of this study examined post glacial recolonisation by UK roe. Previous studies established three main roe deer lineages exist across Europe: a western (Iberian Peninsula), an eastern (Balkan region) and a central lineage (which spans across central Europe). It was unknown which group British roe deer populations belonged. Using a 419 bp region of the mt-DNA d-loop (HVR1) amplified from ancient and modern UK samples a direct comparison was made with previously published European data. Results showed that UK populations belong to the central lineage, indicating a post glacial re-colonisation that is likely to have occurred via an eastern route. The estimation of a substitution rate, which was applied to coalescent based methods, detected a signal for divergence of UK roe from continental roe at 5,600 YBP (HPD 3,500 - 11, 200 YBP), not long after the proposed date for the land bridge split (7,500 YBP). Since post glacial re-colonisation, roe were known to have undergone severe fluctuations in population size. Perhaps the most significant fluctuation began during the medieval period, when roe suffered severe declines (bottlenecking) due to over hunting and deforestation. These declines were so severe that, by the 16th century, roe were believed to have been extirpated (locally extinct) from all southern areas of UK and considered scarce in northern areas. However, by the 19th century roe began to recover. Recovery in the south may have resulted solely from re-introductions (involving both native and non-native stocks) whilst, in the north, recovery resulted from natural re-colonisation from remnant native stocks. The second part of this study investigated the impacts of this more recent history. This was first investigated using a 750 bp of the mt-DNA d loop region (HVR), 16 microsatellite loci and 18 skull traits from modern roe from across the UK to examine structure and diversity. Results based on both DNA and morphology revealed strong differentiation. Northern roe appeared least impacted by recent events; maintaining patterns of isolation by distance (IBD) and high genetic diversity (compared to southern populations). In contrast, southern roe appeared more strongly impacted by recent events; in particular, IBD was non-significant (although this may have been due to a sample size effect) and genetic diversity was lower (compared to northern populations). The roe re-introduction records indicated that the south western population was native in origin (Perthshire). Genetic data showed that this population was, however, highly differentiated from its proposed source; which could reflect the powerful impact of genetic drift resulting from small founder populations. Alternatively, it may be that the ancestry of the south western population is more complex than previously assumed. For the other southern population (Norfolk), re-introduction records indicate a non-native (German) origin. In line with this, both genetic and morphological data implied that these roe were highly distinct. The impacts of bottlenecks (including medieval declines and founder events) on roe populations were also examined. Bottleneck analyses examined ‘signatures’ in modern populations based on 16 microsatellites. The strongest evidence of bottlenecking was detected in the Norfolk population, consistent with the small founder group size introduced into this location relatively recently. For the other populations bottleneck signatures tended to be weak and non-significant. Direct comparisons of ancient (pre-bottleneck) and modern (post –bottleneck) populations were made based on 419 bp of mt-DNA d –loop (HVR1). Results showed considerable losses in genetic diversity between time frames consistent with medieval declines. Northern populations were also found to harbour the highest number of ‘native’ haplotypes and southern populations the lowest. The southern population of Norfolk exhibited only one ‘novel’ haplotype confirming its non-native origin. The impacts of bottlenecks on populations are of concern because they have been shown to reduce population fitness and increase the risk of extinction. Therefore, fitness of roe was examined using fluctuating asymmetry (FA) of 10 skull traits as an indicator of developmental stability. Correlations of FA and genetic diversity indices were examined at the level of individuals within populations, across all populations and among populations. All correlations existed in expected directions; however, correlations tended to be weak and non-significant. Furthermore, among population level FA did not vary significantly across populations providing no indication as to whether fitness has been impacted by past population history.
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Muszyńska, Aleksandra [Verfasser], Andreas [Gutachter] Börner, Klaus [Gutachter] Pillen e Heinrich [Gutachter] Grausgruber. "Histological, ultrastructural, elemental and molecular genetic characterization of "Stabilstroh", a complex trait of rye (Secale cereale L.) determining lodging resistance / Aleksandra Muszyńska ; Gutachter: Andreas Börner, Klaus Pillen, Heinrich Grausgruber". Halle (Saale) : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2018. http://d-nb.info/1210730839/34.
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Tummala, Hemanth. "Discovery and characterisation of the novel, pathological GNB3 mutation (D153del/Gβ3D), in the retinopathy globe enlarged (rge) chicken". Thesis, Abertay University, 2008. https://rke.abertay.ac.uk/en/studentTheses/baf432d1-5f39-43bd-9e47-abc3813985ad.
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The common human GNB3 825C > T variant, which is present in 50% of the world’s chromosomes, has previously been shown to predispose individuals to hypertension, cardiac and neural disorders. This variant causes the production of a stable and gain of function protein Gβ3S- This thesis describes the discovery of a novel D153del mutation that produces an unstable, loss of function, protein Gβ3D in the recessively inherited, retinopathy globe enlarged (rge) chickens. This thesis also demonstrates that the normal Gβ3 downstream phosphorylation signalling pathways are significantly altered in a tissue specific manner in rge chicken organs and in a human GNB3 825TT lymphoblast cell line. In rge tissues expressing Gβ3D protein, the cAMP induced GRK2 phosphorylation activity is significantly altered. Moreover MAPK1 (ERK2) phosphorylation is significantly decreased compared to normal tissues. In contrast human 825TT cell lines expressing the Gβ3S protein, showed enhanced cAMP induced GRK2 and MAPK (ERK1 and ERK2) phosphorylation activity. These results confirm previous findings of 825C > T Gβ3 studies, that Gβ3S is indeed a hyper-activating structural variant, in contrast to the D153del Gp3D is a classical recessively inherited non-functional mutation.
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Latorre, Rey Lisette Johana [Verfasser], Rolf [Gutachter] Marschalek e Ute [Gutachter] Modlich. "Genetic modification in hematopoietic stem cells, using lentiviral vectors, to target protein expression in megakaryocyte and platelets / Lisette Johana Latorre Rey ; Gutachter: Rolf Marschalek, Ute Modlich". Frankfurt am Main : Universitätsbibliothek Johann Christian Senckenberg, 2019. http://d-nb.info/1192372093/34.
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Gervais, Laura. "L'apport des nouvelles technologies dans l'évaluation du potentiel évolutif en population naturelle : le cas du chevreuil européen". Thesis, Toulouse 3, 2020. http://www.theses.fr/2020TOU30241.
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Afin de comprendre si les populations naturelles peuvent faire face aux changements environnementaux, il est nécessaire d'évaluer si les individus sont capables de changer d'environnement ou de phénotype et si ces changements peuvent être génétiques et plastiques. Cela nécessite de mesurer la part de variation génétique des traits liés à la valeur sélective des individus, ce qui a été abordé par une approche de génétique quantitative. Disséquer les composantes de variance du comportement spatial peut améliorer la compréhension de la capacité des populations à s'adapter face aux changements environnementaux. En effet, le mouvement peut permettre de moduler l'hétérogénéité environnementale à laquelle les individus doivent faire face. Pourtant, peu d'études mesurent le potentiel évolutif du mouvement contrairement aux autres traits tels que les traits morphologiques ou d'histoire de vie. Une des principales raisons est que, jusqu'à récemment, il était particulièrement difficile de combiner à la fois des données d'apparentement et de comportement spatial pour des populations naturelles. L'objectif de cette thèse est d'étendre les approches de génétiques quantitatives à l'écologie spatiale, grâce à l'apport synergique des données génomiques et de localisation spatiale des individus, cela afin d'évaluer le potentiel évolutif des comportements spatiaux en populations naturelles. Cette étude se déroule dans une population sauvage de chevreuils habitant un paysage hétérogène rythmé par la présence et l'activité humaine, de telles manières que les ressources de hautes qualités nutritives sont situées dans des endroits où le dérangement humain est fort. Ainsi il est essentiel de comprendre les mécanismes qui sous-tendent la gestion de ce compromis risque ressource par les individus. Dans un premier temps nous nous sommes penchés sur le problème de la mesure la variation génétique des traits, sans accès à un pedigree. Nous avons pu démontrer qu'il est possible d'obtenir des mesures d'héritabilité fiables et robustes avec approximativement 15 000 marqueurs SNPs, et cela sans avoir besoin de génome de référence. Dans un second temps, nous avons démontré que les comportementaux spatiaux et les traits morphologiques, qui sont directement impliqués dans le compromis risque-ressource, sont héritables. Ainsi, ces traits sont susceptibles d'évoluer en réponse à la sélection. Nous avons aussi pu mettre en évidence que les chevreuils pouvaient répondre aux fluctuations temporelles de dérangement humain par une réponse plastique des traits de mouvement et d'utilisation de l'espace. Enfin, nous nous sommes aussi intéressés aux difficultés de mesurer le potentiel évolutif dans des conditions non contrôlées particulièrement dans le cas où les individus apparentés partagent de nombreuses sources de ressemblance phénotypiques.[...]To understand how wild populations cope with environmental changes it is necessary to know: their evolutionary potential to respond to selection, whether individuals can adjust their phenotypes by means of phenotypic plasticity, and whether individuals can change or adjust their environments. Answering this question requires quantifying the genetic (co)variance of fitness-related traits in the wild, which has traditionally been done using the quantitative genetics framework. By including movement and space-use behaviours in this framework, this work has the potential to improve our understanding of wild populations response to environmental changes, because movement is often one of the first behavioural responses to mediate environmental heterogeneity. Little is known about the evolutionary potential of spatial behaviour in the wild in comparison to other fitness-related traits (e.g. morphological or life-history traits). This might certainly be due to the difficulty to combine spatial behaviour data with genetic data in wild populations. Here, we extended the quantitative genetics framework to investigate the evolutionary potential of spatial behaviour in the wild by combining high throughput data technologies (i.e. genome-wide data and biologging). My objective was to clarify - to some extent - the complex role that the environment plays in shaping the phenotypic variation, by studying a free-ranging roe deer population inhabiting a human-dominated landscape that has been extensively modified by human activities such that high quality foraging resources occur in locations where human disturbance is also high. Hence, understanding mechanisms underlying the management of risk avoidance-resource acquisition trade-off by roe deer is essential to understand their ability to persist facing environmental changes. This work innovates by addressing the problem of quantifying the genetic variation of fitness-related traits in non-model organisms without access to a multigenerational pedigree. We demonstrated the huge potential of genomic-based relatedness for estimating quantitative genetic parameters in free-ranging populations. We showed that robust heritability estimates can be obtained from approximately 15'000 SNPs markers in species where no prior genomic resources were available. We demonstrated that movement, space-use behaviours and morphological traits, which are directly linked to the risk-avoidance resource acquisition trade-off, were heritable and thus, have the potential to evolve in response to selection. We also demonstrated that roe deer have the potential to respond to temporal fluctuations in risk through the plastic response of movement and space-use behaviours. We addressed the complexity of quantitative genetic approaches in uncontrolled conditions in the presence of environmental sources of phenotypic resemblance between related individuals. [...]
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Wolk, Alyson M. "The Role of the Retinal Pigment Epithelium in Sorsby Fundus Dystrophy". Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1606842751125309.
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Koch, Philippe. "Study and treatment of intraocular inflammation by anti-inflammatory gene transfer to the retina". Doctoral thesis, Universite Libre de Bruxelles, 2011. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/209901.
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Immunology plays an important role in many ocular disorders. With Evolution, some major organs are able to hide from the immune system. Ocular immune privilege (OIP) can be defined as the ability to raise immune tolerance against an antigen (Ag) when this Ag is placed in specific areas of the eye. Despite the presence of OIP, RPE cells transplanted to the subretinal space (SRS) encounter immune rejection. Specifically, posterior segment autoimmune uveitis (AIU) is a sight-threatening disorder affecting the working-age population. It could be defined as the alteration of OIP that allows retinal auto-antigen recognition by the immune system. Blood-retinal barrier (BRB) breakdown plays a central role in AIU, leading to invasion of leukocytes to the eye. Animal models of experimental autoimmune uveitis (EAU) play a major place in the comprehension of AIU, with correlations to human clinic. Using anti-inflammatory gene transfer to the eye with secreted proteins, different groups significantly reduced EAU development. SOCS1, being a natural intracellular down-regulator of IFNγ pathway and interacting on other cascades, appeared to be an interesting candidate.We herein propose to study different therapeutical paradigms for intraocular inflammation using anti-inflammatory gene transfer to the retina.
Transfer of immuno-modulatory genes in RPE cells prior to their transplantation into the subretinal space could be useful to reduce immune rejection. We thus compared in vitro adeno-associated viral (AAV) gene transfer to a human immortalised RPE cell-line (ARPE-19) and primary cells (hRPE), to modify their genetic properties. We investigated 3 different serotypes and promoters in vitro, before evaluating a SOCS1 gene transfer to decrease immunogenicity of ARPE-19 cells in a xenograft rat model. We showed that AAV2 efficiently transduced at least 60% of ARPE-19 and hRPE cells, by comparison with the AAV1 and 5. In dividing ARPE-19 cells, mean-fluorescent intensity of CMV-driven gene expression was higher as compared to chicken beta-actin (CAG) and tetracycline inducible (TetON) promoters, but quickly decreased with time whereas CAG was more stable. AAV2-CAG-SOCS1 infection of ARPE-19 cells significantly decreased IFNγ-induced MHC II expression. In a last experiment, we infected in vitro ARPE-19 cells, using AAV2-CAG-SOCS1, prior to their delivery into the SRS of Lewis rats, and compared it with AAV2-CAG-eGFP-infected cells or non-infected cells. Since our preliminary results were not conclusive due to technical limitations, more extended investigations are necessary.
In another part, we developed a clinical grading system (CGS) to efficiently score EAU development in mice fundus. Particularly, we introduced the concept of active and inactive inflammation. However, some differences between CGS and histological (HGS) grading systems were pointed out to better characterise weaknesses of each method. We thus enhanced our CGS to reduce discrepancies with HGS but will need further investigations to obtain comparable grading systems.
Finally, we examined in vivo effects of a SOCS1 overexpression on EAU development, following AAV2-CAG-SOCS1 intravitreal (IVit) delivery in right eyes. We first tried two different intraocular routes of injections in this inflammatory model and showed IVit delivery to be the less traumatic. Due to important animal variabilities in EAU, SOCS1 overexpression did not lead to a significant reduction of inflammation when compared to GFP as a whole. However, our design study, allowing to compare injected versus non injected eyes, furthermore revealed IVit injection side effects with pro-inflammatory reaction due to the injection of AAV2-CAG-eGFP itself. In order to reduce the impact of inter-animal variability, we standardized the data by comparing the mean of ratios of injected over non-injected eyes (I/NI) for each animal rather than absolute values. We showed a significant reduction of the clinical and histological scores of the SOCS1 group as compared to the GFP group that was even stronger in the AAV2-targeted parts of the eyes. However, we missed a saline control to corroborate using our GFP group as a control and will need to introduce in a close future some bilateral injections to validate the use of the mean of grading ratios of I/NI in our experiments. Particularly, we showed a different pattern of MHC II positive invading cells in the ciliary body between SOCS1 treated and non-treated eyes. Further investigations are necessary to confirm and characterise SOCS1 protective mechanism in EAU.
Doctorat en Sciences médicales
info:eu-repo/semantics/nonPublished
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Clarke, Bryan Charles. "The [omega]-secalin genes of rye : their organisation and control". Phd thesis, 1997. http://hdl.handle.net/1885/145346.
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Song, Weining 1958. "Genome studies of cereals". 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phs6984.pdf.
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Bibliography: leaves 93-114. This thesis investigates genome analysis of wheat, rye and barley. The objective is to evaluate the feasibility of using polymerase chain reaction (PCR) as a tool for studying cereal genomes. Results are compared for PCR and RFLP (restriction fragment length polymorphism)
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Song, Weining 1958. "Genome studies of cereals / by Song Weining". Thesis, 1992. http://hdl.handle.net/2440/21422.
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Bibliography: leaves 93-114.114, [43] leaves, [30] leaves of plates : ill. ; 30 cm.
This thesis investigates genome analysis of wheat, rye and barley. The objective is to evaluate the feasibility of using polymerase chain reaction (PCR) as a tool for studying cereal genomes. Results are compared for PCR and RFLP (restriction fragment length polymorphism)
Thesis (Ph.D.)--University of Adelaide, Dept. of Plant Science, 1994
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Taylor, Christopher 1966. "Cytogenetic and molecular genetic markers for chromosome 6R of rye linked to CCN resistance / by Christopher Taylor". 1996. http://hdl.handle.net/2440/18939.
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Includes bibliographies.xiv, 175, [96] leaves, [17] leaves of plates : ill. (some col.) ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
This thesis reports on the generation of molecular tools for the analysis of chromosome 6R of rye and the application of these tools in structural analysis of 6RL. Results presented include physical and genetic maps of chromosome 6RL incorporating RFLP and PCR markers and CreR, the locus conferring resistance to cereal cyst nematode (CCN). The ability to detect small introgessions of rye chromatin in wheat is demonstrated.
Thesis (Ph.D.)--University of Adelaide, Dept. of Plant Science, 1997
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Asiedu, Robert. "A study of resistance to cereal cyst nematode (`Heterodera avenae Woll.`) located in the rye genome of triticale / by Robert Asiedu". 1986. http://hdl.handle.net/2440/21224.
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Bibliography: leaves 133-152iv, 152 leaves, [47] leaves of plates : ill. (1 col.) ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
Thesis (Ph.D.)--University of Adelaide, 1987
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Asiedu, Robert. "A study of resistance to cereal cyst nematode (`Heterodera avenae Woll.`) located in the rye genome of triticale / by Robert Asiedu". Thesis, 1986. http://hdl.handle.net/2440/21224.
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HAVELKA, Miloš. "Molekulární aspekty mezidruhové hybridizace jeseterovitých ryb ve vztahu k polyploidii a in situ konzervaci". Doctoral thesis, 2013. http://www.nusl.cz/ntk/nusl-156216.
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Sturgeons (Chondrostei: Acipenseriformes) display markedly disjunct distributions with a wide occurrence in the northern hemisphere. Their unique benthic specializations, conserved morphology, evolutionary age, the variation in their basic diadromous life history, and the large public interest due to their near extinction or critically endangered status make sturgeons and paddlefishes one of the most interesting group of vertebrates. In addition to that, ploidy diversity of Acipenseriformes possessing three ploidy groups having ~ 120 chromosomes, ~ 240 ? 270 chromosomes and ~ 360 chromosomes provides unique model for investigation of evolutionary processes which were going through the genome duplication events. Sturgeons are also notoriously known for their strong propensity to interspecific and intergeneric hybridization which can result in hybrids with various ploidy levels. All these facts make sturgeon genetics and cytogenetics a thriving but also complicated area for research. In the present work, the role of genome duplication and functional reduction evens in evolution of sturgeon species as well as sturgeons? ploidy levels and ploidy relationships among Acipenseriformes were investigated using molecular markers. In addition to that, clarification of origin of abnormal ploidy levels and observation of segregation pattern of microsatellite alleles in the course of hybridization of polyploid sturgeon species were included into this study. With regard to the all considerations and observations provided by this study we concluded that evolution of sturgeon species is still widely dynamic and ongoing process which might goes through the allopolyplodization as well as autopolyplidization events.
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Ramiz, Zarka. "Genetic Control of Seed Dormancy in Lolium rigidum Gaudin and Bromus diandrus Roth". Thesis, 2022. https://hdl.handle.net/2440/136519.
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Bromus diandrus and Lolium rigidum are winter annual grass weeds that have become serious weeds of cereal crops in Australia. Surveys of Australian grain growers over the last 20 years have consistently shown L. rigidum to be one of the most troublesome weeds. Characteristics such as staggered seed germination, herbicide resistance and adaptation to environmental stresses have also made B. diandrus an increasing problem of crop production systems in Australia. From recent studies, some evidence has emerged of changes in germination behaviour of these weeds species that may be making their management more difficult. Studies of genetic variation in seed dormancy within populations of these weeds may help to better understand adaptive response of these weed species to changes in management practices. Even though several researchers have highlighted the need to understand genetic control of weed seed dormancy, not many researchers have investigated this topic. Seed dormancy was assessed in five B. diandrus populations collected from wheat fields in cropping areas of South Australia in 2017. Seedling emergence pattern showed large differences in seed dormancy among these populations. Time to 50% seedling emergence (t50) for B. diandrus populations ranged from 10.3 to 28.5d. Seedling emergence in these populations of B. diandrus continued for up to 80d which provided an opportunity to select early and late emerging cohorts within each population in 2018 and 2019. Evaluation of seeds of the progeny of these cohorts in 2019 and 2020 consistently showed significant differences in seed dormancy. Seeds produced by early cohorts had a lower dormancy than seeds of late cohorts. For example, the seeds of the early cohort of Riverton population had t50 of 23.5d as compared to 46d for the late cohort. A similar pattern of differences in t50 between the seeds of early and late cohorts was also observed in Mallala population. Consistent differences in seed dormancy expression between the early and late cohorts of the same population clearly indicated that the expression of seed dormancy in these cohorts was under strong genetic control. In order to identify genes associated with differences in seed dormancy, seeds of early and late cohorts of Riverton and Mallala were analysed for the expression of ABA1 and GA20ox genes using qPCR at 30, 60, 90 and 120 days after maturity. Higher ABA1 and lower GA20ox gene expression was observed in seeds of late cohorts (high dormancy) compared to the early emerging cohorts (low dormancy). During the after-ripening period, the expression of GA20ox increased and ABA1 decreased, which was correlated with the loss of seed dormancy in late emerging cohorts. These studies have shown large differences in seed dormancy between individuals present within the same populations of B. diandrus. Presence of genetic variation for this important trait could play an important role in their adaptation to escape pre-sowing weed control tactics and become an even greater problem in field crops grown in this region. Similar studies of seed dormancy were also undertaken on L. rigidum. Seeds of seven L. rigidum populations were collected in 2017 from wheat fields on three commercial farms in the medium (Paskeville and Roseworthy) and high (Hilltown) rainfall areas of South Australia. Presence of greater than two-fold differences in seed dormancy between populations from the same farm indicates likely influence of management practices on selection for seed dormancy. For example, the time taken to reach 50% (t50) of total seasonal seedling emergence for 3 populations from a single farm at Roseworthy ranged from 11d to 27d. Similarly, t50 for 2 populations from a farm at Hilltown varied from 13d for HT1 to 23d for HT2. Occurrence of seedling emergence over a long period in L. rigidum populations provided an opportunity to select low (LD) and high dormancy (HD) cohorts. Seeds produced by these cohorts of three L. rigidum populations over two years showed significant differences in seed dormancy between them. Seeds of low and high dormancy cohorts of HT2, PSK1 and RAC3 were concurrently analysed for seed dormancy and the expression of ABA1 and GA20ox using qPCR at 30, 60 and 90 days after maturity. Greater ABA1 and lower GA20ox gene expression was observed in seeds of high dormancy cohorts than in low dormancy cohorts. During the after-ripening period, the expression of GA20ox increased and ABA1 decreased, which was significantly correlated with seed dormancy. The results from this investigation provide evidence for genetic control of seed dormancy in field populations of L. rigidum. Presence of heritable genetic variation in seed dormancy in L. rigidum populations will allow this weed to rapidly adapt to changes in weed management practices such as delayed sowing of crops. As water stress during spring time can be a frequent occurrence in Australian grain growing regions, studies were undertaken to determine the impact of moisture stress during reproductive development on seed dormancy in B. diandrus and L. rigidum populations. Seeds of these populations were also investigated for the expression of genes involved with GA and ABA synthesis. Seeds collected from plants of both species exposed to water stress from GS31 onwards were the most dormant in both weed species. In contrast, plants that were well-watered (control) produced seeds with the lowest dormancy. The seeds collected from the well-watered treatment of both L. rigidum and B. diandrus populations reached 50% germination at 90 days after maturity (DAM) while the germination of stress at GS31 was approximately 50-67% lower than the well-watered (control) treatment. Water stress treatments altered the expression of ABA1 and GA20ox genes which was correlated with the level of dormancy in seeds of B. diandrus and L. rigidum. The ABA1 expression levels were high at 30DAM but decreased during the after-ripening periods. This coincided with the gene expression levels of GA20ox, which were low soon after maturity but gradually increased. The 2-fold increase in the GA20ox levels in all the populations and stress treatments at 90-150DAM points towards the loss of seed dormancy. The differences observed in the seed germination behaviour of water stressed vs non stressed treatments and also the gene expression levels of ABA1 and GA20ox highlighted the fact that effects of water stress on seed dormancy are mediated through these dormancy regulating genes in these two weed species.Thesis (Ph.D.) -- University of Adelaide, School of Agriculture, Food and Wine, 2022
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[Verfasser], San San Hmwe. "Population genetics and phylogeography of European red deer (Cervus elaphus) and roe deer (Capreolus capreolus) / vorgelegt von San San Hmwe". 2005. http://d-nb.info/1007169346/34.
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Popelka, Herzfeld Juan Carlos [Verfasser]. "Development of a genetic transformation protocol for rye (Secale cereale L.) and characterisation of transgene expression after biolistic or Agrobacterium mediated gene transfer / vorgelegt von Juan Carlos Popelka Herzfeld". 2002. http://d-nb.info/964315939/34.
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Abdel, Rahman Faisal Mirghani. "Systematic analysis of genes expressed in the retinal pigment epithelium (RPE) and identification of candidates for genetic susceptibility to age-related macular degeneration (AMD)". Doctoral thesis, 2003. https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-7053.
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Age related macular degeneration (AMD) is the leading cause of visual impairment in the elderly and the major cause of blindness in the developed world. To date, the molecular mechanisms underlying the disease are not well understood although in recent years a primary involvement of the retinal pigment epithelium (RPE) has become evident. The aim of the present study is to systematically analyse genes which are differentially expressed in the RPE, and to assess their possible association with mechanisms and pathways likely to be related to retinal disease, in particular AMD. Towards this goal, 2379 expressed sequence tags (ESTs) were established from an inhouse generated RPE cDNA library. This library was constructed by using the suppression subtraction hybridization (SSH) technique which normalises redundant sequences and ensures enrichment of rare transcripts. In a first phase, 1002 ESTs were sequenced and subjected to comprehensive alignment with public nucleotide and protein databases. A search of the 1002 ESTs against the human genome draft sequence yielded 168 known genes, 51 predicted genes, 15 unknown transcripts and 41 clones with no significant similarity. Reverse Northern blot hybridization was performed for 318 EST clusters to identify abundantly expressed genes in the RPE and to prioritize subsequent analyses. Representative clones were spotted onto a nylon membrane and hybridized with cDNA probes of driver (heart and liver) and tester (RPE) used in the cDNA library construction. Subsequently, 107 EST clusters were subjected to Northern blot hybridizations. These analyses identified 7 RPE-specific, 3 retina-specific, 7 RPE/retina-specific, and 7 tissue restricted transcripts, while 29 EST clusters were ubiquitously expressed, and evaluation was not possible for another 54 EST clusters. Of the 24 transcripts with specific or restricted expression, 16 clones were selected for further characterization. The predicted gene MGC2477 and 2 novel isoforms of the human transient receptor potential cation channel, subfamily M, member 3 (TRPM3) were cloned and further described in detail. In addition, polymorphic variations for these 2 genes as well as for the human MT-Protocadherin gene were determined. For MGC2477, 15 single nucleotide polymorphisms (SNPs) were identified, with 13 having a frequency of the minor allele greater than 20%. 10 of the 15 SNPs have not been reported in so far in public SNP repertoires. Partial assessment of the TRPM3 gene yielded 35 SNPs. Of these, 30 (85.7%) were highly frequent (0.17-0.5%), and 14 (40%) were novel. The MT-Protocadherin gene revealed 35 SNPs, including 28 (80%) with high frequency of the minor allele. 23 (65.7%) were novel SNPs. These SNPs will be used to construct the most common haplotypes. These will be used in case/control association studies in 400 AMD patients and 200 ethnically and aged matched controls to assess a possible contribution of these genes in the etiology of AMDDie altersabhängige Makuladegeneration (AMD) ist die häufigste Ursache von gravierenden Einschränkungen des Sehvermögens im fortgeschrittenen Lebensalter. In den Industriestaaten ist die AMD zudem die Hauptursache für Altersblindheit. Die molekularen Mechanismen, die zur Entstehung der AMD führen, sind bisher nur unzureichend bekannt. In den letzten Jahren hat es sich jedoch herausgestellt, dass das retinale Pigmentepithel (RPE) eine primäre Rolle in der Pathogenese der AMD spielt. Ziel dieser Arbeit war die systematische Analyse von Genen, welche im RPE differentiell exprimiert werden. Entsprechende Kandidatengene sollten auf deren mögliche Beteiligung an der Entstehung von Erkrankungen der Retina, insbesondere der AMD, untersucht werden. Zunächst wurden 2379 ESTs aus einer innerhalb der Arbeitsgruppe generierten RPE cDNA Bibliothek definiert. Die dazu verwendete cDNA Bibliothek wurde durch die Suppressions- Subtraktions Hybridisierungs-Technik (SSH) konstruiert. Diese Technik gestattet eine Normalisierung gegenüber redundanten Sequenzen und begünstigt gleichzeitig die Anreicherung von seltenen Transkripten. In einer ersten Phase wurden 1002 ESTs sequenziert und einer umfassenden bioinformatischen Analyse mit Hilfe der verfügbaren DNA- und Protein Datenbanken unterzogen. Der Vergleich der 1002 ESTs mit der Draft Sequenz des menschlichen Genoms ergab den Hinweis auf 168 bereits bekannte Gene, 51 mögliche Gene, 15 völlig unbekannte Transkripte und 41 nicht weiter zuordenbare cDNA Klone. 318 EST Cluster wurden einer reversen Northen-Blot Analyse unterzogen um hochexprimierte Gene zu identifizieren und damit Prioritäten für die weiteren Analysen zu setzen. Im Rahmen der Northern-Analyse wurden repräsentative Klone von 107 EST-Klustern mit cDNA Sonden der ursprünglichen cDNA-Bibliothek hybridisiert. Als Ergebnis dieser Analyse fanden sich 7 RPE-spezifische, 3 Retina-spezifische, 7 sowohl RPE- als auch Retinaspezifische sowie 7 auf einzelne Gewebe limitierte Transkripte. 29 EST Cluster erwiesen sich als ubiquitär exprimiert, und 54 Kluster konnten nicht näher zugeordnet werden. Von den 24 Transkripten mit spezifischer oder zumindest begrenzter Expression wurden 16 Klone zur weiteren Charakterisierung ausgewählt. Aus diesen Material wurden im Rahmen dieser Arbeit das Kandidatengen MGC2477 sowie 2 neue Isoformen des menschlichen TRPM3-Gens kloniert und näher charakterisiert. Weiterhin wurden polymorphe Varianten dieser beiden Isoformen und des menschlichen MTProtocadherin- Gens definiert. Im Gen MGC2477 wurden 15 SNPs identifiziert, wovon die Allelhäufigkeit des selteneren Allels bei 13 der SNPs über 20% lag. Für 10 der insgesamt 15 vii SNPs dieses Gens fanden sich bisher keine Einträge in den entprechenden Datenbanken. Die SNP-Suche wurde auch für das TRPM3-Gen durchgeführt und ergab 35 SNPs, wovon 30 (85,7%) als hochfrequent eingestuft werden konnten. 14 dieser 35 SNPs waren bisher nicht in den Datenbanken verzeichnet. Beim MT-Protocadherin-Gen fanden sich ebenfalls 35 SNPs, wobei 80% eine hohe Frequenz des selteneren Allels aufwiesen. In diesem Fall handelte es sich bei 23 der insgesamt 35 SNPs um bisher unbekannte Allele. Diese SNPs bilden den Ausgangspunkt zur Konstruktion der häufigsten Haplotypen der genannten Gene. Mit der Charakterisierung der Einzel-Nukleotid Polymorphismen der Kandidatengene wurde die Grundlage zur Durchführung von Fall/Kontrollstudien gelegt, in deren Rahmen die Bedeutung der jeweiligen Kandidatengene in der Pathogense der AMD untersucht werden kann
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Abdel, Rahman Faisal Mirghani [Verfasser]. "Systematic analysis of genes expressed in the retinal pigment epithelium (RPE) and identification of candidates for genetic susceptibility to age-related macular degeneration (AMD) / vorgelegt von Faisal Mirghani Abdel Rahman". 2003. http://d-nb.info/969682328/34.
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Gauthier, Nicolas. "Physiopathologie des maladies métaboliques héréditaires des acyls-Coenzyme A révélée par l’étude d’un modèle animal déficient en 3-hydroxy-3-méthylglutaryl-Coenzyme A lyase". Thèse, 2013. http://hdl.handle.net/1866/10098.
Texto completo da fonteResumo:
La plupart des conditions détectées par le dépistage néonatal sont reliées à l'une des enzymes qui dégradent les acyls-CoA mitochondriaux. Le rôle physiopathologique des acyls-CoA dans ces maladies est peu connue, en partie parce que les esters liés au CoA sont intracellulaires et les échantillons tissulaires de patients humains ne sont généralement pas disponibles. Nous avons créé une modèle animal murin de l'une de ces maladies, la déficience en 3-hydroxy-3-methylglutaryl-CoA lyase (HL), dans le foie (souris HLLKO). HL est la dernière enzyme de la cétogenèse et de la dégradation de la leucine. Une déficience chronique en HL et les crises métaboliques aigües, produisent chacune un portrait anormal et distinct d'acyls-CoA hépatiques. Ces profils ne sont pas prévisibles à partir des niveaux d'acides organiques urinaires et d'acylcarnitines plasmatiques. La cétogenèse est indétectable dans les hépatocytes HLLKO. Dans les mitochondries HLLKO isolées, le dégagement de 14CO2 à partir du [2-14C]pyruvate a diminué en présence de 2-ketoisocaproate (KIC), un métabolite de la leucine. Au test de tolérance au pyruvate, une mesure de la gluconéogenèse, les souris HLLKO ne présentent pas la réponse hyperglycémique normale. L'hyperammoniémie et l'hypoglycémie, des signes classiques de plusieurs erreurs innées du métabolisme (EIM) des acyls-CoA, surviennent de façon spontanée chez des souris HLLKO et sont inductibles par l'administration de KIC. Une charge en KIC augmente le niveau d'acyls-CoA reliés à la leucine et diminue le niveau d'acétyl-CoA. Les mitochondries des hépatocytes des souris HLLKO traitées avec KIC présentent un gonflement marqué. L'hyperammoniémie des souris HLLKO répond au traitement par l'acide N-carbamyl-L-glutamique. Ce composé permet de contourner une enzyme acétyl-CoA-dépendante essentielle pour l’uréogenèse, le N-acétylglutamate synthase. Ceci démontre un mécanisme d’hyperammoniémie lié aux acyls-CoA. Dans une deuxième EIM des acyls-CoA, la souris SCADD, déficiente en déshydrogénase des acyls-CoA à chaînes courtes. Le profil des acyls-CoA hépatiques montre un niveau élevé du butyryl-CoA particulièrement après un jeûne et après une charge en triglycérides à chaîne moyenne précurseurs du butyryl-CoA.Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-CoA esters in mitochondria. The role of acyl-CoAs in the pathophysiology of these disorders is poorly understood, in part because CoA esters are intracellular and samples are not generally available from human patients. We created a mouse model of one such condition, deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase (HL), in liver (HLLKO mice). HL catalyses a reaction of ketone body synthesis and of leucine degradation. Chronic HL deficiency and acute crises each produced distinct abnormal liver acyl-CoA patterns, which would not be predictable from levels of urine organic acids and plasma acylcarnitines. In HLLKO hepatocytes, ketogenesis was undetectable. Measures of Krebs cycle flux diminished following incubation of HLLKO mitochondria with the leucine metabolite 2-ketoisocaproate (KIC). HLLKO mice also had suppression of the normal hyperglycemic response to a systemic pyruvate load, a measure of gluconeogenesis. Hyperammonemia and hypoglycemia, cardinal features of many inborn errors of acyl-CoA metabolism, occurred spontaneously in some HLLKO mice and were inducible by administering KIC. KIC loading also increased levels of several leucine-related acyl-CoAs and reduced acetyl-CoA levels. Ultrastructurally, hepatocyte mitochondria of KIC-treated HLLKO mice show marked swelling. KIC-induced hyperammonemia improved following administration of carglumate (N-carbamyl-L-glutamic acid), which bypasses an acetyl-CoA-dependent reaction essential for urea cycle function, thus demonstrating an acyl-CoA-related mechanism for this complication. In a second animal model of an inborn error of acyl-CoA metabolism, short chain acyl-CoA dehydrogenase (SCAD)-deficient mice, the main finding in liver acyl-CoAs is increased butyryl-CoA, particularly during fasting or after enteral loading with medium chain triglyceride precursor of butyryl-CoA.
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Hofman-Hüther, Hana. "Wirkung schwerer Ionen auf strahlenresistente und strahlensensitive Tumorzellen". Doctoral thesis, 2001. http://hdl.handle.net/11858/00-1735-0000-0006-AE6B-3.
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