Добірка наукової літератури з теми "Molecular genetics"
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Статті в журналах з теми "Molecular genetics":
Athanasiou, Y., M. Zavros, M. Arsali, L. Papazachariou, P. Demosthenous, I. Savva, K. Voskarides, et al. "GENETIC DISEASES AND MOLECULAR GENETICS." Nephrology Dialysis Transplantation 29, suppl 3 (May 1, 2014): iii339—iii350. http://dx.doi.org/10.1093/ndt/gfu162.
Stekrova, J., J. Reiterova, V. Elisakova, M. Merta, M. Kohoutova, V. Tesar, S. Suvakov, et al. "Genetic diseases and molecular genetics." Clinical Kidney Journal 4, suppl 2 (June 1, 2011): 4.s2.28. http://dx.doi.org/10.1093/ndtplus/4.s2.28.
Legendre, C., D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, et al. "Genetic diseases and molecular genetics." Nephrology Dialysis Transplantation 28, suppl 1 (May 1, 2013): i309—i321. http://dx.doi.org/10.1093/ndt/gft126.
Wierzbicki, Anthony S. "Genetics and molecular biology: Genetic epidemiology." Current Opinion in Lipidology 15, no. 6 (December 2004): 699–701. http://dx.doi.org/10.1097/00041433-200412000-00011.
Vázquez, José. "Molecular Genetics." American Biology Teacher 65, no. 8 (October 1, 2003): 634. http://dx.doi.org/10.2307/4451575.
Vázquez, José. "Molecular Genetics." American Biology Teacher 68, no. 4 (April 1, 2006): 253–54. http://dx.doi.org/10.2307/4451977.
&NA;. "Molecular genetics." Current Opinion in Cardiology 12, no. 3 (May 1997): B91. http://dx.doi.org/10.1097/00001573-199705000-00017.
Towbin, Jeffrey A. "Molecular genetics." Current Opinion in Cardiology 16, no. 3 (May 2001): 187. http://dx.doi.org/10.1097/00001573-200105000-00005.
&NA;. "Molecular Genetics." Journal of Pediatric Hematology/Oncology 25, no. 4 (April 2003): S16—S17. http://dx.doi.org/10.1097/00043426-200304000-00035.
Padua, R. A. "Molecular Genetics." Journal of Medical Genetics 27, no. 3 (March 1, 1990): 216. http://dx.doi.org/10.1136/jmg.27.3.216.
Дисертації з теми "Molecular genetics":
Bruiners, Natalie. "Molecular genetic analysis of preterm labour." Thesis, Stellenbosch : Stellenbosch University, 2007. http://hdl.handle.net/10019.1/17741.
ENGLISH ABSTRACT: The World Health Organisation (WHO) has defined preterm labour as the onset of labour before 37 completed weeks of gestation with an incidence ranging between 5-10%. Although patient care has improved, the rate of preterm birth has slowly been increasing and currently impacts significantly on maternal and fetal mortality and morbidity. The complex condition of preterm labour involves multiple etiologies and risk factors, which complicates the search for candidate markers and / or biomarkers. The aim of this prospective study was to investigate potential genetic associations with preterm labour. The study cohort consisted of consecutive first-time booking, low-risk primigravid pregnant women from a restricted geographical region. The study cohort comprised 421 [306 Coloured and 115 Black] pregnant women presenting at the Paarl Hospital Obstetric clinic. Subsequently, DNA was extracted from whole blood and investigated for a range of known polymorphisms in pro-inflammatory and anti-inflammatory cytokines, as well as the novel LGALS13 gene, for potential variants that may impact on pregnancy outcome. Screening techniques involve combinations of allele-specific PCR amplification, Multiphor SSCP/HD analysis, restriction enzyme analyses and DNA sequencing. A significant association was demonstrated between the IL-1RN*2-allele and adverse pregnancy outcome, mainly in the preterm labour and hypertension group. The presence TNFα-308 A-allele was associated with overall adverse pregnancy outcome and preterm labour. In addition to this, a novel IL-1RN allele was identified in the control group. Mutation screening and subsequent statistical methods revealed an association between a novel LGALS13 exonic variant, 221delT, and preterm labour in Coloured women. Two previouslydocumented intronic variants (IVS2-22A/G and IVS3+72T/A) demonstrated linkage disequilibrium, signifying evolutionary conservation of exon three. Additionally, two novel intronic variants, IVS2-36 G/A and IVS2-15 G/A, demonstrated no association with adverse pregnancy outcome. In this study we identified rare novel exonic variants; two non-synonymous variants in exon three (M44V, [N=2] and K87R, [N=1]) and a silent variant in exon four (P117P, [N=1]) - all identified in individuals from the control cohort. Within coding exon three, an interesting variant [“hotspot”] was identified, which represents six polymorphic bases within an 11bp stretch. No associations were demonstrated with these variants and pregnancy outcome. Furthermore, a previously documented 5' “‘promoter” variant, -98 A/C, was identified and demonstrated no association with adverse pregnancy outcome. However, subdivision of lateonset pre-eclamptic cases revealed a significant association with the A-allele and late-onset preeclampsia. Genotype-phenotype investigation demonstrated association between the IL-10 -1082 A/G, IL-4 C/T and 221delT loci and poor pregnancy progress which manifested as (i) delivery of infants weighing <2000g, (ii) before 37 weeks of gestation. The findings of this study will strengthen our understanding of the pathophysiology underlying pregnancy complications and facilitate the further development of effective treatment strategies to reduce maternal and fetal morbidity and mortality.
AFRIKAANSE OPSOMMING: Die Wêreld Gesondheid Organisasie (WHO) klassifiseer voortydse kraam as kontraksie voor 37 volledige weke, met ‘n insidensie tussen 5-10%. Alhoewel pasiënte-sorg verbeter het, neem die tempo van voortydse geboorte steeds toe, wat ‘n groot impak het op moederstrefte en fetale mortaliteit en morbiditeit. Die komplekse kondisie van voortydse kraam sluit veelvoudige oorsake en risiko faktore in, wat die navorsing van kandidaat en / of biologiese merkers kompliseer. Die doel van hierdie prospektiewe studie, was die potensiële navorsing van genetiese assosiasies met voortydse kraam. Die studie kohort bevat opeenvolgende eerste bespreking van lae risiko primigravida swanger vrouens vanaf ‘n beperkte geografiese omgewing. Die studie kohort beslaan 421 [306 Kleurling en 115 Swart] swanger vrouens teenwoordig by die Paarl Hospitaal Verloskunde kliniek. Vervolgens was DNS geëkstraeer van bloedmonsters en geondersoek vir ‘n verskeidenheid van bekende polimorfismes in pro-inflammatoriese en antiinflammatoriese sitokiene, insluitend die nuwe sifting van die LGALS13 geen potensiaal vir variante wat ‘n impak op swangerskap uitkomste sal hê. Die siftings tegnieke toegepas, sluit in ‘n kombinasie van alleel-spesifieke amplifikasie, Multiphor enkelstring konformasie polimorfisme / heterodupleks analise, restriksie ensiem verterings en volgorde bepalings tegnieke. ‘n Betekenisvolle assosiasie was gedemonstreer tussen die IL-1RN*2-alleel en nadelige swangerskap, beperk tot voortydse kraam en die hipertensie groep. Die teenwoordigheid van die TNFα-308 A-alleel was geassosieer met algehele nadelige uitkomste en voortydse kraam. Daarby, was ‘n nuwe IL-1RN alleel geïdentifiseer in die kontrole groep. Mutasie sifting en opeenvolgende statistiese metodes, het ‘n assosiasie getoon tussen ‘n nuwe LGALS13 koderende variant, 221delT, en voortydse kraam in Kleurling vrouens. Twee voorafbeskryfde introniese variante (IVS2-22 A/G en IVS3+72 T/A), het ‘n betekenisvolle bewys opgelewer dat daar koppelings-onewewig bestaan tussen hierdie variante, en toon evolusionêre konservasie van ekson drie. Addisioneel was twee nuwe introniese variante ontdek, IVS2-36 G/A en IVS2-15 G/A, wat geen assosiasie getoon nie. In hierdie studie het ons ‘n nuwe seldsame koderende variante geïdentifiseer in die kontrole groep, waarvan twee nie-sinonieme variante was in ekson drie (M44V, N=2 en K87R, N=1) en ‘n stil variasie in ekson vier (P117P, N=1). Geleë in die koderende area van ekson drie, was ’n interessante variant [“hotspot’] ontdek, waarvan ses basisse in ‘n 11 basis paar area polimorfies is. Geen assosiasie was getoon met hierdie variante en swangerskap uitkomste nie. Verder was ‘n voorafbeskryfde 5' ‘promotor’ variant, -98 A/C, geïdentifiseer wat geen assosiasie getoon met nadelige swangerskap uitkomste nie. Onderverdeling van laat-aanvangs preeklampsie, het getoon dat die A-alleel ‘n betekenisvolle assosiasie getoon het met die ontwikkeling van laat pre-eklampsie. Genotipe-fenotipe interaksies het ’n assosiasie getoon tussen die IL-10 -1082 A/G, IL-4 C/T en 221delT lokusse en nadelige swangerskap uitkomste, wat manifesteer as (i) kraam van suigelinge wat <2000g weeg, (ii) geboorte voor 37 weke. Die bevindings van hierdie studie sal ons basiese kennis verbeter oor die patologie beskrywend aan swangerskap komplikasies, asook die fasilitering en ontwikkeling van effektiewe behandelings strategieë, om moederstrefte en fetale mortaliteit en morbiditeit te verminder.
Fourie, Mariesa. "Molecular characterization and further shortening of recombinant forms of the Lr19 translocation." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/189.
Hedmark, Eva. "Conservation Genetics of Scandinavian Wolverines." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6636.
Howell, Viive Maarika. "Molecular Genetics of Hyperparathyroidism." University of Sydney, 2005. http://hdl.handle.net/2123/6022.
Hyperparathyroidism, a disease of the parathyroid glands, is one of the most common endocrinopathies, having a prevalence of 1 – 3 per 1000 individuals. It is characterised by calcium insensitive hypersecretion of parathyroid hormone, and increased cell proliferation. While the treatment for familial as well as many sporadic tumours associated with hyperparathyroidism includes parathyroidectomy, the extent of surgery and the follow-up monitoring regime, are dependent on accurate clinical and histopathological classification of the lesion. However, overlaps in histopathological and morphological features confound distinctions between the three main classifications of adenoma, hyperplasia and carcinoma and differential diagnosis of these lesions remains challenging. At the start of this candidature in January 2002, the genes associated with two familial syndromes in which hyperparathyroidism may feature, Multiple Endocrine Neoplasia (MEN) 1 and 2 had been identified, respectively MEN1 and RET. In addition, overexpression or translocation of cyclin D1 had been identified in both benign and malignant sporadic lesions, indicating a role for cyclin D1 in parathyroid tumorigenesis. However, the underlying events leading either directly, or indirectly, to the development of a large proportion of parathyroid lesions are still largely unknown. The work described in this thesis has contributed to the understanding of parathyroid lesions and the diagnosis and prognosis of affected individuals. During this candidature, constitutive mutation of HRPT2 was associated with Hyperparathyroidism–Jaw Tumour syndrome (HPT-JT). HRPT2 mutation analysis and loss of heterozygosity studies at 1q24-32 in parathyroid tumours presented in this thesis identified the strong association of HRPT2 mutation with sporadic parathyroid malignancy. In addition, 2-hits affecting HRPT2 were identified in several tumours suggestive of a role for HRPT2 as a tumour suppressor gene in sporadic parathyroid tumorigenesis. Microarray analysis of parathyroid tumours presented in this thesis identified three broad clusters of tumours. Cluster 1 comprised predominantly hyperplastic specimens and also included the normal tissue. Cluster 2, the most robust of the clusters, consisted of tumours harbouring HRPT2 mutations. The HPT-JT-associated tumours, both benign and malignant, and sporadic carcinomas, comprised this cluster. Cluster 3 contained the majority of the sporadic adenoma specimens, some hyperplasia, as well as all of the MEN 1-associated tumours. The cluster data is strongly suggestive that parathyroid tumours with somatic HRPT2 mutation, or tumours developing on a background of germline HRPT2 mutation, follow pathways distinct from those involved in mutant MEN 1-related parathyroid tumours. The results of this work provide strong evidence for an adenoma to carcinoma progression model for parathyroid tumorigenesis in the presence of a germline HRPT2 mutation. With the knowledge that both HRPT2 and MEN1 have significant roles in familial as well as sporadic parathyroid tumorigenesis, assays for mutation screening of these two genes have been developed as part of this thesis. These assays will facilitate a rapid molecular diagnosis for patients with one of these familial syndromes. Furthermore, novel putative biomarkers for different parathyroid tumour subtypes have also been identified. VCAM1 and UCHL1 (PGP9.5) were found to be significantly overexpressed in tumours harbouring an HRPT2 mutation at both the transcript and protein level. These two molecules are suggested as putative biomarkers for the discrimination of sporadic carcinoma or HPT-JT-associated tumours. RALDH2 transcript and protein were highly significantly overexpressed in the hyperplasia class relative to the adenoma class, and this molecule is suggested as a putative biomarker for discrimination of these classes of parathyroid tumours. These biomarkers may assist in the accurate diagnosis and prognosis of hyperparathyroidism. Large cohort studies of these putative biomarkers will be required to determine their robustness in discriminating parathyroid tumour subtypes. Further studies of their putative role in parathyroid tumorigenesis may identify them as novel molecular targets for future therapeutics to treat both hyperplastic and neoplastic parathyroid lesions.
Wallace, Robyn. "Molecular genetics of epilepsy /." Title page, contents and summary only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09phw193.pdf.
Errata pasted onto back end-paper. Copies of author's previously published articles inserted. Includes bibliographical references (leaves 157-176).
Busfield, Frances. "Molecular genetics of dementia." Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336329.
Hill, Margaret J. "Molecular genetics of tabtoxin." Thesis, University of East Anglia, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.292600.
Asumalahti, Kati. "Molecular genetics of psoriasis." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/asumalahti/.
Law, Bic-fai Fian, and 羅璧輝. "Molecular genetics of esophageal squamous cell carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3660446X.
Sjödin, Per. "Effects of Selection and Demography on DNA Polymorphism in Black Mustard (Brassica nigra)." Doctoral thesis, Uppsala universitet, Evolutionär funktionsgenomik, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6633.
Книги з теми "Molecular genetics":
Russell, Peter J. iGenetics: A molecular approach. 2nd ed. San Francisco: Pearson/Benjamin Cummings, 2006.
Russell, Peter J. iGenetics: A molecular approach. 3rd ed. San Francisco: Benjamin Cummings, 2010.
Hancock, J. T. Molecular genetics. Oxford: Butterworth-Heinemann, 1999.
Smith-Keary, P. F. Molecular genetics. London: Macmillan, 1991.
Smith-Keary, Peter. Molecular Genetics. London: Macmillan Education UK, 1991. http://dx.doi.org/10.1007/978-1-349-11732-1.
J, Benz Edward, ed. Molecular genetics. Edinburgh: Churchill Livingstone, 1989.
J, Benz Edward, ed. Molecular genetics. Edinburgh: Churchill Livingstone, 1989.
D, Dickson. Molecular genetics. Uxbridge: Brunel University, 1994.
Sudbery, Peter. Human molecular genetics. 2nd ed. Harlow, England: Prentice Hall, 2002.
Sudbery, Peter. Human molecular genetics. Harlow, Essex: Longman, 1998.
Частини книг з теми "Molecular genetics":
le Maire, Marc, Raymond Chabaud, and Guy Hervé. "Molecular Genetics." In Laboratory Guide to Biochemistry, Enzymology, and Protein Physical Chemistry, 17–24. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3820-2_2.
Reuter, Martin, Andrea Felten, and Christian Montag. "Molecular Genetics." In Neuroeconomics, 443–61. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-642-35923-1_23.
Hangay, George, Susan V. Gruner, F. W. Howard, John L. Capinera, Eugene J. Gerberg, Susan E. Halbert, John B. Heppner, et al. "Molecular Genetics." In Encyclopedia of Entomology, 2455. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6359-6_4660.
Jeffery, Austin. "Molecular Genetics." In Encyclopedia of Personality and Individual Differences, 2962–67. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-24612-3_777.
Jeffery, Austin. "Molecular Genetics." In Encyclopedia of Personality and Individual Differences, 1–5. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-28099-8_777-1.
Gorczyca, Wojciech. "Molecular Genetics." In Atlas of Differential Diagnosis in Neoplastic Hematopathology, 183–205. 4th ed. Boca Raton: CRC Press, 2021. http://dx.doi.org/10.1201/9781003120445-08.
Graf, Ulrich, Nancy van Schaik, and Friedrich E. Würgler. "Molecular Biology." In Drosophila Genetics, 189–202. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76805-7_8.
Foroud, Tatiana, and Daniel L. Koller. "Genetic Inheritance and Population Genetics." In Molecular Genetic Pathology, 393–403. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-405-6_14.
Foroud, Tatiana, and Daniel L. Koller. "Genetic Inheritance and Population Genetics." In Molecular Genetic Pathology, 111–27. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-4800-6_5.
Twfieg, Mohammed-Elfatih, and M. Dawn Teare. "Molecular Genetics and Genetic Variation." In Methods in Molecular Biology, 3–12. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60327-416-6_1.
Тези доповідей конференцій з теми "Molecular genetics":
Giannelli, B. F. "MOLECULAR GENETICS OF HAEMOPHILIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643981.
MENDLEWICZ, J. "MOLECULAR GENETICS IN PSYCHIATRY RESEARCH." In IX World Congress of Psychiatry. WORLD SCIENTIFIC, 1994. http://dx.doi.org/10.1142/9789814440912_0004.
Sari, Lili Nur Indah, and Elza Ibrahim Auerkari. "Molecular Genetics and Epigenetics of Ankyloglossia." In 11th International Dentistry Scientific Meeting (IDSM 2017). Paris, France: Atlantis Press, 2018. http://dx.doi.org/10.2991/idsm-17.2018.14.
Monica, Monica, and Elza Ibrahim Auerkari. "Molecular Genetics of Peutz-Jegher Syndrome." In 11th International Dentistry Scientific Meeting (IDSM 2017). Paris, France: Atlantis Press, 2018. http://dx.doi.org/10.2991/idsm-17.2018.19.
Utami, Wulan Sri, Ferry Pergamus Gultom, Harismanto, and Elza Ibrahim Auerkari. "Molecular genetics and epigenetics of ameloblastoma." In ADVANCES IN INTELLIGENT APPLICATIONS AND INNOVATIVE APPROACH. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0140214.
"Molecular phylogeny of plant 14-3-3 proteins family." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-133.
"Molecular, сytogenetic, and morphological features of primary octoploid triticale". У Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-055.
Antonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.
Weitz, C., Y. Miyake, K. Shinzato, E. Montag, and J. Nathans. "Studies on the molecular genetics of tritanopia." In OSA Annual Meeting. Washington, D.C.: Optica Publishing Group, 1990. http://dx.doi.org/10.1364/oam.1990.fm3.
Neitz, Maureen. "Molecular genetics of red-green color vision." In OSA Annual Meeting. Washington, D.C.: Optica Publishing Group, 1990. http://dx.doi.org/10.1364/oam.1990.fm2.
Звіти організацій з теми "Molecular genetics":
Beitz, Donald, Micha Ron, Albert E. Freeman, Moshe Shani, Alan Myers, and B. T. McDaniel. Mitochondrial Molecular Genetics and Milk Production. United States Department of Agriculture, May 1993. http://dx.doi.org/10.32747/1993.7603822.bard.
Cullen, D. Molecular genetics of ligninase expression. Progress report. Office of Scientific and Technical Information (OSTI), July 1995. http://dx.doi.org/10.2172/81012.
Ow, David W. ow@pgec ams usda gov. Molecular Genetics of Metal Detoxification: Prospects for Phytoremediation. Office of Scientific and Technical Information (OSTI), September 2000. http://dx.doi.org/10.2172/781718.
Ow, David W. Molecular Genetics of Metal Detoxification: Prospects for Phytoremediation. Office of Scientific and Technical Information (OSTI), June 1999. http://dx.doi.org/10.2172/828166.
Konisky, J. Genetics and molecular biology of methanogen genes. Final report. Office of Scientific and Technical Information (OSTI), October 1997. http://dx.doi.org/10.2172/555346.
Chamovitz, Daniel A., and Zhenbiao Yang. Chemical Genetics of the COP9 Signalosome: Identification of Novel Regulators of Plant Development. United States Department of Agriculture, January 2011. http://dx.doi.org/10.32747/2011.7699844.bard.
Fox, Jacob, and Hassan Fathallan-Shaykh. Molecular Genetics Techniques to Develop New Treatments for Brain Cancers. Office of Scientific and Technical Information (OSTI), September 2006. http://dx.doi.org/10.2172/900310.
Gunsalus, R. P. Molecular biology and genetics of the acetate-utilizing methanogenic bacteria. Office of Scientific and Technical Information (OSTI), January 1991. http://dx.doi.org/10.2172/6967641.
Robert P. Gunsalus. Molecular Biology and Genetics of the Acetate-Utilizing Methanogenic Bacteria. Office of Scientific and Technical Information (OSTI), July 2003. http://dx.doi.org/10.2172/859404.
Heven Sze. Regulating Intracellular Calcium in Plants: From Molecular Genetics to Physiology. Office of Scientific and Technical Information (OSTI), June 2008. http://dx.doi.org/10.2172/932554.