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Letteratura scientifica selezionata sul tema "Genetic aspects"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 31 luglio 2024

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Articoli di riviste sul tema "Genetic aspects"

1

Bishop, Kathleen Kirk. "Psychosocial Aspects of Genetic Disorders: Implications for Practice". Families in Society: The Journal of Contemporary Social Services 74, n. 4 (aprile 1993): 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following diagnosis of a genetic disease, understand the ramifications of the diagnosis, cope with the accompanying concerns, and find me appropriate services.

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2

Gerasimenko, O. A., L. K. Dzeranova e L. Ya Rozhinskaya. "Pseudohypoparathyroidism: genetic aspects". Problems of Endocrinology 55, n. 3 (15 giugno 2009): 30–33. http://dx.doi.org/10.14341/probl200955330-33.

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The review of literature details the issues of genetics, the specific features of inheritance, the clinical picture and treatment of pseudohypoparathyroidisms (PHPT). In practice, clinicians more frequently deal with type 1 PHPT and the diagnosis of this type creates no significant problems. However, despite the low prevalence of the other types of PHPT - 1b, 1c, and 2, the diseases may run with noticeably clinical symptoms and present a significant problem in the context of diagnosis and treatment. This review may be of concern to both clinicians and geneticists who are interested in this problem.

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3

Silver, Lee M. "Spermatogenesis: Genetic aspects". Cell 52, n. 4 (febbraio 1988): 485–86. http://dx.doi.org/10.1016/0092-8674(88)90461-8.

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4

Fountoulakis, Stelios, e Agathocles Tsatsoulis. "Molecular genetic aspects and pathophysiology of endocrine hypertension". HORMONES 5, n. 2 (15 aprile 2006): 90–106. http://dx.doi.org/10.14310/horm.2002.11173.

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5

Hublin, Christer, e Jaakko Kaprio. "Genetic aspects and genetic epidemiology of parasomnias". Sleep Medicine Reviews 7, n. 5 (ottobre 2003): 413–21. http://dx.doi.org/10.1053/smrv.2001.0247.

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6

Morozova, A. Yu, E. A. Zubkov, Ya A. Zorkina, A. M. Reznik, G. P. Kostyuk e V. P. Chekhonin. "Genetic aspects of schizophrenia". Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 117, n. 6 (2017): 126. http://dx.doi.org/10.17116/jnevro201711761126-132.

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7

Dicke, Arnold. "Genetic Discrimination: Actuarial Aspects". Science 270, n. 5241 (dicembre 1995): 1422–23. http://dx.doi.org/10.1126/science.270.5241.1422.

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8

Laivuori, Hannele. "Genetic aspects of preeclampsia". Frontiers in Bioscience 12, n. 1 (2007): 2372. http://dx.doi.org/10.2741/2239.

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9

Hill, R. P. "Genetic aspects of metastasis". Current Opinion in ONCOLOGY 2, n. 1 (febbraio 1990): 157–62. http://dx.doi.org/10.1097/00001622-199002000-00026.

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Ferreira, Rosane da Cruz, Faye Oelrich e Bronwyn Bateman. "Genetic aspects of strabismus". Arquivos Brasileiros de Oftalmologia 65, n. 2 (marzo 2002): 171–75. http://dx.doi.org/10.1590/s0004-27492002000200004.

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Tesi sul tema "Genetic aspects"

1

Singleton, Andrew B. "Genetic aspects of dementia". Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299652.

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2

Curragh, H. J. "Aspects of genetic instability in lactobacilli". Thesis, Queen's University Belfast, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.384494.

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3

Pennington, Catherine Margaret. "Genetic aspects of human prion diseases". Thesis, University of Edinburgh, 2013. http://hdl.handle.net/1842/24216.

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Introduction: Human prion diseases are progressive, fatal neurological conditions linked to conformational changes in the structure of the prion protein. Prion diseases may be sporadic (sporadic Creutzfeldt-Jakob disease or sCJD, Sporadic Fatal Insomnia), acquired (variant CJD, iatrogenic CJD, kuru) or genetic (genetic prion disease, gPD). gPD is due to a disease-specific point or octapeptide repeat insertion (OPRI) mutation in the prion protein gene (PRNP). Numerous different PRNP mutations have been described. In some cases of gPD the phenotype may closely resemble that of sCJD, and it can be impossible to distinguish sporadic from genetic cases without genetic screening. The clinico-pathological phenotype of gPD is highly variable, both between different mutations and even within families carrying the same mutation. This variability can be partly explained by a polymorphism at codon 129 of PRNP. Codon 129 encodes either methionine or valine, and the status of both the mutated and wild-type alleles may influence disease susceptibility and phenotype. Codon 129 may also affect the manifestations of sporadic and acquired prion disease. Homozygosity for methionine at codon 129 is over-represented in both sporadic CJD (sCJD) and variant CJD (vCJD); indeed all definite or probable clinical cases of vCJD seen to date have been homozygous for methionine. Other polymorphisms of PRNP have been found in a small number of patients with sporadic and variant CJD. The significance of these polymorphisms has not been fully investigated. It is likely that other, as yet unidentified, genetic factors also play a role in influencing susceptibility to prion diseases and the clinico-pathological phenotype. A recent genome wide association study of vCJD patients found codon 129 to be the main genetic risk factor for vCJD, but did identify other candidate loci that may contribute to disease susceptibility. Work is in progress to carry out genomic screens for other, novel polymorphisms in 309 patients with sCJD and 118 patients with vCJD. Aims: The aims of the work described in this MD thesis are: 1) To review all cases of gPD on the database of the National Creutzfeldt-Jakob Disease Research and Surveillance Unit. The clinico-pathological phenotype, investigative findings and family history will be reviewed in detail. The findings will be compared with those cases of gPD previously described, in particular with cases seen in other European countries. The incidence and prevalence of these diseases in the UK will also be assessed. 2) To review cases of sCJD and vCJD with novel PRNP polymorphisms of uncertain significance. The clinico-pathological phenotype will be reviewed in detail to attempt to establish if these novel polymorphisms exert any influence over disease susceptibility or phenotype. Results: 159 cases of gPD were identified between 1970 and 2009, representing 7.8% of the prion disease (of any type) cases referred to the NCJDRSU over this time period. 17 different PRNP haplotypes were identified: P102L-129M, P105L-129V, A117V-129V, S132I-129M, Y163X, D167G-129M, D178N-129M, D178N-129V, E200K-129M, D202N-129V, V210I-129M, Q212P-129M, 2-OPRI, 4-OPRI, 5- OPRI, 6-OPRI, 7-OPRI. The clinicopathological phenotypes were highly variable and often difficult to distinguish from sCJD. The highest number of cases was caused by the 6-OPRI, most of which belonged to a single kindred. Several cases in the 4-OPRI group were found to share an additional risk allele, rsl029273C. In may be that this mutation is not pathogenic unless this risk allele is also present. This raises the possibility that other as yet unidentified genetic risk factors exist which influence gPD susceptibility and clinicopathological phenotype. Overall 61.4% of cases tested had a positive cerebrospinal fluid (CSF) 14-3-3, 90.0% an elevated SI00b, 23.1% had Magnetic Resonance Imaging (MRI) of the brain showing basal ganglia or cortical high signal, and 18.1% had an electroencephalogram (EEG) showing triphasic periodic complexes. A positive family history of prion disease was present in 57.9% of cases. Discussion: The range of point mutations and OPRI seen in the UK is considerable, but the majority of cases were due to 6-OPRI, E200K, or PI 02L. The UK differs from the rest of the world in that E200K is not the commonest mutation, due to the presence of a large British kindred with the 6-OPRI. Even within the larger kindreds, the clinicopathological phenotype remained very variable. Some distinctive features which may act as pointers towards gPD were found, such as a linear pattern of PrPSc deposition in the cerebellum seen in E200K-129M cases. Analysing the data in the smaller groups should be done with caution, and further large international studies are needed in order to truly determine the influence of factors such as codon 129 status. As with other forms of prion disease, there is an excess of individuals with methionine homozygosity at codon 129. It is unclear whether or not PRNP mutations in cis with valine at codon 129 will result in prion disease at an older age or with a different phenotype, or if these are not actually pathogenic in this genetic context. In the case of 4-OPRI, it appears that an additional risk allele is required for the development of disease, and it remains to be seen if other additional genetic factors will be found to influence disease susceptibility and phenotype. A relatively small percentage of cases had EEGs showing periodic triphasic waves, or basal ganglia or cortical high signal on MRI. CSF SI00b was more sensitive than 14-3-3, the reverse of the pattern seen in sCJD. A pattern of a negative 14-3-3 and a very high SI00b should lead to suspicions of gPD. The current diagnostic criteria for gPD are relatively strict, and may exclude some individuals who have neuropathologically confirmed prion disease (without PRNP genotyping) and several second degree relatives with gPD. This is a potential problem, especially as the neuropathological appearances cannot be relied upon to distinguish sporadic from genetic disease. Particular attention should be paid to the family history and any subtle unusual neuropathological appearances to try and reduce the risk of gPD cases being missed. In conclusion, gPD remains a difficult condition to diagnose and study. Large systematic collaborative studies are essential to increase our understanding of these rare conditions.

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Bley, Tim. "Genetic aspects of labrador retriever myopathy /". [S.l.] : [s.n.], 2001. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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Hayat, Roshanai Afsaneh. "Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer". Doctoral thesis, Uppsala universitet, Vårdvetenskap, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128870.

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The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. Participants (n=214) reported a relatively high level of anxiety but a low level of depression compared to cancer patients in general. However, there was no indication that the distress experienced was due to the counseling. Moderate changes in life and family relations, high level of adherence to recommended controls and satisfaction was reported. Study II was a randomized control trial (RCT) intervention study which involved 147 counselees. An increase in the level of knowledge and correct estimation of personal risk was reported in both the intervention and control groups, although this increase declined at later follow-up. Enhanced information led to significantly greater satisfaction with the given information, and the way of informing relatives. Most counselees had shared information with their at-risk relatives. Study III focused on sharing information with at-risk relatives among participants in study II and their relatives (n=81). Counselees were interviewed and answered a questionnaire, whilst their relatives only answered the questionnaire. Counselees reported positive/neutral feelings about communicating genetic information and mostly interpreted their relatives’ reactions as positive/ neutral. Also, approximately 50% of relatives reported positive/neutral reactions and were generally satisfied with the received information. Study IV was conducted in Sweden and Norway based on 235 counselees. Counselees expected counselors to be skillful and thoughtful, take them seriously and provide risk estimations and medical information. Most important issues to counselees were satisfactorily addressed by the counselors. Analyzing importance rankings resulted in five categories of needs: a need for facts, caring communication and medical information, need for understanding and support in sharing genetic information, practical care and medical/practical information. In conclusion, no adverse psychological or behavioral effect on counselees was observed. Apparently, genetic counseling is managed properly and counselors successfully address counselees’ needs. Providing extended information does not seem necessary, however, tailoring information to individual counselees needs may create a more effective counseling.

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Parelli, Francisco Paulo Contador [UNESP]. "Papel de polimorfismos genéticos nos genes IL10, TNF e LTA na hanseníase". Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/89944.

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Made available in DSpace on 2014-06-11T19:24:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-06-30Bitstream added on 2014-06-13T18:52:00Z : No. of bitstreams: 1 parelli_fpc_me_botfm.pdf: 1098143 bytes, checksum: 1014f8698e96235c1c64a333e1b81527 (MD5)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Universidade Estadual Paulista (UNESP)
Visando contribuir para o melhor entendimento do papel dos polimorfismos em genes de citocinas na susceptibilidade para hanseníase, foi conduzido um estudo de associação do tipo caso-controle investigando polimorfismos de base única (SNPs) nas regiões promotoras dos genes IL10 (-819C>T, -1082A>G, -2763A>C, -2849A>G e -3575T>A) e TNF (TNF-308G>A) e no gene LTA (LTA+80C>A e LTA252A>G). Amostras de DNA genômico foram obtidas de 545 pacientes com hanseníase e 380 controles, provenientes do Estado de São Paulo. As genotipagens foram feitas pelas técnicas de PCR e polimorfismo de comprimento dos fragmentos de restrição (RFLP). Para as análises estatísticas foram calculadas as freqüências alélicas, de genótipos e de portadores para cada polimorfismo avaliado. As freqüências de haplótipos foram estimadas por meio do método de máxima verossimilhança. Desvios da lei do equilíbrio de Hardy-Weinberg foram testados empregando testes de Qui-quadrado. Modelos de regressão logística com cálculo de odds ratio (OR) e p-valor com ajustes para as co-variáveis gênero e etnia foram utilizados nas comparações das freqüências entre casos e controles. Em análise isolada, os polimorfismos TNF-308G>A e LTA252A>G não apresentaram associação significativa com a doença, já para o polimorfismo LTA+80C>A, os genótipos AA e CA mostraram-se marginalmente associados com OR de proteção (0,68 e 0,80, respectivamente e mesmo p-valor corrigido=0,07) para hanseníase per se. Confirmando ainda o sentido desta associação, a análise de carreador para o polimorfismo no locus LTA+80 mostrou associação com proteção para hanseníase per se para os carreadores do alelo A (OR=0,78; p-valor corrigido=0,04). Na análise de haplótipos, LTA+80A/LTA+252A/TNF-308G foi também associado com proteção (OR=0,74; p-valor corrigido=0,02). Para a região promotora do gene IL10, o SNP - 819C>T foi...
To the better understanding of the role of genetic polymorphisms at cytokines genes on leprosy susceptibility, we conducted a case-control association study investigating single nucleotide polymorphisms (SNPs) located at promoter region of IL10 (-819C>T, -1082A>G, -2763A>C, -2849A>G and -3575T>A) and TNF genes (TNF-308G>A) and LTA gene (LTA+80C>A e LTA252A>G) gene. Genomic DNA samples were obtained from 545 leprosy patients and 380 controls, from State of São Paulo. Genotyping were done by PCR followed by restriction fragments length polymorphisms (RFLP) analyses. For statistical analyses were calculated allelic, genotypes and carriers frequencies for each polymorphism. The haplotypes frequencies were estimated using maximum-likelihood estimation method. Chisquare tests for deviation from Hardy-Weinberg equilibrium were also performed. Logistic regression models for odds ratio (OR) and p-value calculations, with adjusting for the ethnicity and gender covariates, were performed in comparisons of frequencies. Isolated, TNF-308G>A and LTA252A>G were not significantly associated to the disease, while the CC and CA genotypes to LTA+80C>A locus were marginally associated with protection (0.68 e 0.80, respectively and identical corrected p-value=0.07) for leprosy per se. In the same line, carrier analysis for LTA+80 locus showed association with protection for leprosy per se for allele A carriers (OR=0.78; corrected p-value=0.04). In the haplotype analysis, LTA+80A/LTA+252A/TNF-308G was also associated to protection (OR=0.74; corrected p-value=0.02). From IL10 promoter region analysis, -819C>T SNP was associated with susceptibility to leprosy per se to TT (OR=1.58; p-value=0.05) and CT genotypes (OR=1.36; p=0.05). This association could be confirmed in the carriers analysis for -819T allele (OR=1.40; p-value=0.02 and OR=1.39; corrected pvalue= 0.03). From haplotypic analysis for IL10 ... (Complete abstract click electronic access below)

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Zhao, Wei, e 趙煒. "BRAF mutation and aberrant methylation of gene promoters in the pathogenesis of gastrointestinal tract adenocarcinoma". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B36718464.

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Stolk, Megan. "Characterisation of novel TAC3 a d TACR3 gene variants and polymorphisms in patients with pre-eclampsia /". Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/1748.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.
In South Africa, pre-eclampsia is the second highest cause of maternal deaths. The incidence of this disease in the Western Cape alone is 6.8% and places a large burden of health care facilities. The placenta and implantation thereof is thought to play the most significant role in the onset of this disease. Among the many theories for its aetiology, is the acknowledged two - stage theory. This is based on evidence that pre-eclamptic placentas demonstrate altered remodelling and invasion into the uterine endometrium and myometrium. The sub-optimal endometrium invasion leads to less oxygenation of the placental environment causing transient hypoxia. Consequently, the placenta is thought to release unknown factors into the maternal circulation which then culminates in clinical features associated with pre-eclampsia. Neurokinin B is thought to be one of these placental factors and subsequently binds to the NKB receptor in the maternal system. Endothelium-derived nitric oxide synthase has recently been shown to activate this receptor. The aim of this study was to investigate the role of neurokinin B (TAC3) and the neurokinin B receptor (TACR3) genes in the predisposition of pre-eclampsia and their interaction with eNOS in the South African coloured population together with a matched control cohort.

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Law, Bic-fai Fian, e 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.

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Mells, George Frank Gannaway. "Investigation of the genetic basis of primary biliary cirrhosis : the PBC genetics study". Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648610.

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Libri sul tema "Genetic aspects"

1

1941-, Hennig Wolfgang, a cura di. Spermatogenesis: Genetic aspects. Berlin: Springer-Verlag, 1987.

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Hennig, Wolfgang, a cura di. Spermatogenesis Genetic Aspects. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-540-47184-4.

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1941-, Hennig Wolfgang, a cura di. Spermatogenesis: Genetic aspects. Berlin: Springer-Verlag, 1987.

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4

Robert, Blumenthal, Frati Luigi e Verna Roberto, a cura di. Bioengineered molecules: Basic and clinical aspects. New York: Raven Press, 1989.

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Endre, Czeizel, Benkmann Heide-G. 1942- e Goedde H. W, a cura di. Genetics of the Hungarian population: Ethnic aspects, genetic markers, ecogenetics, and disease spectrum. Berlin: Springer Verlag, 1991.

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F, Dominiczak A., e Connell J. M. C, a cura di. Genetics of hypertension. Edinburgh: Elsevier, 2007.

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Dronamraju, Krishna R., e Paolo Arese. Malaria: Genetic and Evolutionary Aspects. Boston, MA: Springer US, 2006. http://dx.doi.org/10.1007/0-387-28295-5.

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1929-, Sakai Toshiaki, e Tsuboi Takayuki 1931-, a cura di. Genetic aspects of human behavior. Tokyo: Igaku-Shoin, 1985.

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W, Goedde H., e Agarwal Dharam P, a cura di. Alcoholism: Biomedical and genetic aspects. New York: Pergamon Press, 1989.

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Werner, Goedde H., e Agarwal Dharam P, a cura di. Alcoholism: Biomedical and genetic aspects. New York: Pergamon, 1989.

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Capitoli di libri sul tema "Genetic aspects"

1

Shevah, Orit, e Zvi Laron. "Genetic Aspects". In Laron Syndrome - From Man to Mouse, 29–52. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_5.

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Hebebrand, J., A. Wermter e A. Hinney. "Genetic Aspects". In Pediatric and Adolescent Medicine, 80–90. Basel: KARGER, 2004. http://dx.doi.org/10.1159/000078283.

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Esplen, M. J. "Psychological Aspects". In Genetic Testing, 53–78. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/0471748897.ch3.

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Whiteford, Margo. "Genetic Aspects of Hypospadias". In Hypospadias Surgery, 59–61. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-662-07841-9_4.

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Williams, C. J., e S. A. Jimenez. "Genetic and Metabolic Aspects". In Osteoarthritis, 134–56. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-60026-5_8.

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Moravec, Tomáš, Helen Whitley, Zdeněk Musil e Ondřej Bradáč. "Genetic Aspects of iNPH". In Normal Pressure Hydrocephalus, 107–21. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-36522-5_7.

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Jacobson, Daniel R., e Joel N. Buxbaum. "Genetic Aspects of Amyloidosis". In Advances in Human Genetics, 69–123. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-5958-6_2.

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McGregor, A. M., S. Ratanachaiyavong, C. Gunn, K. W. Lee, P. S. Barnett, C. Darke e R. Hall. "Genetic Aspects Of Graves’disease". In Thyroid Autoimmunity, 153–58. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4613-0945-1_18.

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Goddard, Audrey D., e Ellen Solomon. "Genetic Aspects of Cancer". In Advances in Human Genetics 21, 321–76. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-3010-7_4.

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van der Zanden, Loes F. M. "Genetic Aspects of Hypospadias". In Hypospadias Surgery, 271–83. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-94248-9_11.

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Atti di convegni sul tema "Genetic aspects"

1

Rotaru, Ludmila, e Tudor Rotaru. "Ovarian cancer – genetic aspects". In XIth International Congress of Geneticists and Breeders from the Republic of Moldova. Scientific Association of Geneticists and Breeders of the Republic of Moldova, Institute of Genetics, Physiology and Plant Protection, Moldova State University, 2021. http://dx.doi.org/10.53040/cga11.2021.041.

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Mladenović, Tamara. "FUNDAMENTAL LEGAL ASPECTS OF THE PRENATAL GENETIC DIAGNOSIS". In International scientific conference challenges and open issues of service law. Vol. 1. University of Kragujevac, Faculty of law, 2024. http://dx.doi.org/10.46793/xxmajsko1.395m.

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he field of genetic services within the legal system of the Republic of Serbia was initially regulated in 2015 with the enactment of the Law on Prevention and Diagnosis of Genetic Diseases, Genetically Conditioned Anomalies, and Rare Diseases. This law, commonly known as “Zoja’s Law”, was prompted by the advocacy of parents whose daughter suffered from a rare disease and was denied access to healthcare due to the inability to obtain a diagnosis in Serbia. As a result, the law was introduced to the public with significant attention and is recognized as one of the most modern legal frameworks in Europe concerning the establishment of rights, duties, and responsibilities for participants in medical procedures related to the prevention and diagnosis of genetics diseases, genetically conditioned anomalies, and rare diseases.This law covers several broader areas in the context of genetic testing aimed at establishing a diagnosis, including predictive, prenatal, and postnatal diagnostics. This paper focuses on the analysis of prenatal diagnosis - the genetic testing of embryos or fetuses. In addition to examining the provisions of domestic legislation, special attention will be given to analyzing the European Court of Human Rights (ECtHR) practice regarding member states’ provision of access to these services for individuals. This analysis entails assessing the compatibility of Serbia’s legal framework with European human rights standards, particularly concerning the right to health and reproductive rights. Key issues explored include access to information, consent, privacy, and the balancing of individual rights with societal interests.

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Nazaryan, A. O., G. D. Molchanov, G. Kh Kudryakova e V. Yu Danelyan. "Environmental aspects of genetic engineering". In SCIENCE OF RUSSIA: GOALS AND OBJECTIVES. L-Journal, 2021. http://dx.doi.org/10.18411/sr-10-02-2021-14.

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4

Siregar, Nasytha Vikarina, e Elza Ibrahim Auerkari. "Genetic and Epigenetic Aspects of Crouzonrs Syndrome". In 11th International Dentistry Scientific Meeting (IDSM 2017). Paris, France: Atlantis Press, 2018. http://dx.doi.org/10.2991/idsm-17.2018.23.

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"Genetic aspects of internet-dependence in teenagers". In Bioinformatics of Genome Regulation and Structure/ Systems Biology. institute of cytology and genetics siberian branch of the russian academy of science, Novosibirsk State University, 2020. http://dx.doi.org/10.18699/bgrs/sb-2020-160.

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"Genetic aspects of seed longevity in barley". In SYSTEMS BIOLOGY AND BIOINFORMATICS. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/sbb-2019-36.

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HEINONEN-GUZEJEV, M., HS VUORINEN, H. MUSSALO-RAUHAMAA, K. HEIKKILA, T. JAUHIAINEN, M. KOSKENVUO e J. KAPRIO. "NOISE SENSITIVITY - MEDICAL, PSYCHOLOGICAL AND GENETIC ASPECTS". In International Congress on Noise as a Public Health Problem (ICBEN) 2011. Institute of Acoustics, 2023. http://dx.doi.org/10.25144/16996.

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Kosinski, Witold, e Daniel Mikolajewski. "Genetic Algorithms for Network Optimization". In 2009 International Conference on Computational Aspects of Social Networks (CASON). IEEE, 2009. http://dx.doi.org/10.1109/cason.2009.19.

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BEZZINA, CONNIE R., e ARTHUR A. M. WILDE. "MOLECULAR, GENETIC AND CLINICAL ASPECTS OF ARRHYTHMIA DISORDERS". In Proceedings of the 31st International Congress on Electrocardiology. WORLD SCIENTIFIC, 2005. http://dx.doi.org/10.1142/9789812702234_0080.

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Iskhakova, A. G., A. N. Toropovsky, A. V. Zolotarev, O. N. Pavlova e M. V. Komarova. "Molecular and Genetic Aspects of Diabetic Retinopathy Diagnosis". In Conference on Health and Wellbeing in Modern Society (CHW 2021). Paris, France: Atlantis Press, 2022. http://dx.doi.org/10.2991/ahsr.k.220103.053.

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Rapporti di organizzazioni sul tema "Genetic aspects"

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Girisankar Prema, Abinaya, Iyshwarya Bhaskar Kalarani e Ramakrishnan Veerabathiran. Genetic aspects of epilepsy. Peeref, novembre 2022. http://dx.doi.org/10.54985/peeref.2211p2734634.

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Hadsall, Katie. Genetic aspects of Pulmonary Fibrosis. Ames (Iowa): Iowa State University, gennaio 2020. http://dx.doi.org/10.31274/cc-20240624-784.

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3

Gandhi, S. S. Geological setting and genetic aspects of mineral occurrences in the southern Great Bear magmatic zone, Northwest Territories. Natural Resources Canada/ESS/Scientific and Technical Publishing Services, 1994. http://dx.doi.org/10.4095/194035.

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Sacco, Roberto. Genetic and pharmacogenomic aspects of the medication related osteonecrosis of the jaw (MRONJ): a quality research umbrella review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, marzo 2022. http://dx.doi.org/10.37766/inplasy2022.3.0002.

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Dawson, William O., Moshe Bar-Joseph, Charles L. Niblett, Ron Gafny, Richard F. Lee e Munir Mawassi. Citrus Tristeza Virus: Molecular Approaches to Cross Protection. United States Department of Agriculture, gennaio 1994. http://dx.doi.org/10.32747/1994.7570551.bard.

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Citrus tristeza virus (CTV) has the largest genomes among RNA viruses of plants. The 19,296-nt CTV genome codes for eleven open reading frames (ORFs) and can produce at least 19 protein products ranging in size from 6 to 401 kDa. The complex biology of CTV results in an unusual composition of CTV-specific RNAs in infected plants which includes multiple defective RNAs and mixed infections. The complex structure of CTV populations poses special problems for diagnosis, strain differentiation, and studies of pathogenesis. A manipulatable genetic system with the full-length cDNA copy of the CTV genome has been created which allows direct studies of various aspects of the CTV biology and pathology. This genetic system is being used to identify determinants of the decline and stem-pitting disease syndromes, as well as determinants responsible for aphid transmission.

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Zhang, Hongbin, Shahal Abbo, Weidong Chen, Amir Sherman, Dani Shtienberg e Frederick Muehlbauer. Integrative Physical and Genetic Mapping of the Chickpea Genome for Fine Mapping and Analysis of Agronomic Traits. United States Department of Agriculture, marzo 2010. http://dx.doi.org/10.32747/2010.7592122.bard.

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Chickpea is the third most important pulse crop in the world and ranks first in the Middle East; however, it has been subjected to only limited research in modern genomics. In the first period of this project (US-3034-98R) we constructed two large-insert BAC and BIBAC libraries, developed 325 SSR markers and mapped QTLs controlling ascochyta blight resistance (ABR) and days to first flower (DTF). Nevertheless, the utilities of these tools and results in gene discovery and marker-assisted breeding are limited due to the absence of an essential platform. The goals of this period of the project were to use the resources and tools developed in the first period of the project to develop a BAC/BIBAC physical map for chickpea and using it to identify BAC/BIBACcontigs containing agronomic genes of interest, with an emphasis on ABR and DTF, and develop DNA markers suitable for marker-assisted breeding. Toward these goals, we proposed: 1) Fingerprint ~50,000 (10x) BACs from the BAC and BIBAC libraries, assemble the clones into a genome-wide BAC/BIBAC physical map, and integrate the BAC/BIBAC map with the existing chickpea genetic maps (Zhang, USA); 2) fine-map ABR and DTFQTLs and enhance molecular tools for chickpea genetics and breeding (Shahal, Sherman and DaniShtienberg, Israel; Chen and Muehlbauer; USA); and 3) integrate the BAC/BIBAC map with the existing chickpea genetic maps (Sherman, Israel; Zhang and Chen, USA). For these objectives, a total of $460,000 was requested originally, but a total of $300,000 was awarded to the project. We first developed two new BAC and BIBAC libraries, Chickpea-CME and Chickpea- CHV. The chickpea-CMEBAC library contains 22,272 clones, with an average insert size of 130 kb and equivalent to 4.0 fold of the chickpea genome. The chickpea-CHVBIBAC library contains 38,400 clones, with an average insert size of 140 kb and equivalent to 7.5 fold of the chickpea genome. The two new libraries (11.5 x), along with the two BAC (Chickpea-CHI) and BIBAC (Chickpea-CBV) libraries (7.1 x) constructed in the first period of the project, provide libraries essential for chickpea genome physical mapping and many other genomics researches. Using these four libraries we then developed the proposed BAC/BIBAC physical map of chickpea. A total of 67,584 clones were fingerprinted, and 64,211 (~11.6 x) of the fingerprints validated and used in the physical map assembly. The physical map consists of 1,945 BAC/BIBACcontigs, with each containing an average of 39.2 clones and having an average physical length of 559 kb. The contigs collectively span ~1,088 Mb, being 1.49 fold of the 740- Mb chickpea genome. Third, we integrated the physical map with the two existing chickpea genetic maps using a total of 172 (124 + 48) SSR markers. Fourth, we identified tightly linked markers for ABR-QTL1, increased marker density at ABR-QTL2 and studied the genetic basis of resistance to pod abortion, a major problem in the east Mediterranean, caused by heat stress. Finally, we, using the integrated map, isolated the BAC/BIBACcontigs containing or closely linked to QTL4.1, QTL4.2 and QTL8 for ABR and QTL8 for DTF. The integrated BAC/BIBAC map resulted from the project will provide a powerful platform and tools essential for many aspects of advanced genomics and genetics research of this crop and related species. These includes, but are not limited to, targeted development of SNP, InDel and SSR markers, high-resolution mapping of the chickpea genome and its agronomic genes and QTLs, sequencing and decoding of all genes of the genome using the next-generation sequencing technology, and comparative genome analysis of chickpea versus other legumes. The DNA markers and BAC/BIBACcontigs containing or closely linked to ABR and DTF provide essential tools to develop SSR and SNP markers well-suited for marker-assisted breeding of the traits and clone their corresponding genes. The development of the tools and knowledge will thus promote enhanced and substantial genetic improvement of the crop and related legumes.

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Rajarajan, Kunasekaran, Alka Bharati, Hirdayesh Anuragi, Arun Kumar Handa, Kishor Gaikwad, Nagendra Kumar Singh, Kamal Prasad Mohapatra et al. Status of perennial tree germplasm resources in India and their utilization in the context of global genome sequencing efforts. World Agroforestry, 2020. http://dx.doi.org/10.5716/wp20050.pdf.

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Tree species are characterized by their perennial growth habit, woody morphology, long juvenile period phase, mostly outcrossing behaviour, highly heterozygosity genetic makeup, and relatively high genetic diversity. The economically important trees have been an integral part of the human life system due to their provision of timber, fruit, fodder, and medicinal and/or health benefits. Despite its widespread application in agriculture, industrial and medicinal values, the molecular aspects of key economic traits of many tree species remain largely unexplored. Over the past two decades, research on forest tree genomics has generally lagged behind that of other agronomic crops. Genomic research on trees is motivated by the need to support genetic improvement programmes mostly for food trees and timber, and develop diagnostic tools to assist in recommendation for optimum conservation, restoration and management of natural populations. Research on long-lived woody perennials is extending our molecular knowledge and understanding of complex life histories and adaptations to the environment, enriching a field that has traditionally drawn its biological inference from a few short-lived herbaceous species. These concerns have fostered research aimed at deciphering the genomic basis of complex traits that are related to the adaptive value of trees. This review summarizes the highlights of tree genomics and offers some priorities for accelerating progress in the next decade.

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Droby, Samir, Joseph W. Eckert, Shulamit Manulis e Rajesh K. Mehra. Ecology, Population Dynamics and Genetic Diversity of Epiphytic Yeast Antagonists of Postharvest Diseases of Fruits. United States Department of Agriculture, ottobre 1994. http://dx.doi.org/10.32747/1994.7568777.bard.

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One of the emerging technologies is the use of microbial agents for the control of postharvest diseases of fruits and vegetables. A number of antagonistic microorganisms have been discovered which have the potential to effectively control postharvest diseases. Some of this technology has been patented and commercial products such as AspireTM (Ecogen Corporatin, Langhorne, PA, USA), Biosave 10TM and Biosave 11TM (Ecoscience Inc., Worchester, MA, USA) have been registered for commercial use. The principal investigator of this project was involved in developing the yeast-based biofungicide-AspireTM and testing its efficacy under commercial conditions. This research project was initiated to fill the gap between the knowledge available on development and commercial implementation of yeast biocontrol agents and basic understanding of various aspects related to introducing yeast antagonists to fruit surfaces, along with verification of population genetics. The main objectives of this study were: Study ecology, population dynamics and genetic diversity of the yeast antagonists Candida guilliermondii, C. oleophila, and Debaryomyces hansenii, and study the effect of preharvest application of the yeast antagonist C. oleophila naturally occurring epiphytic microbial population and on the development of postharvest diseases of citrus fruit during storage. Our findings, which were detailed in several publications, have shown that an epiphytic yeast population of grapefruit able to grow under high osmotic conditions and a wide range of temperatures was isolated and characterized for its biocontrol activity against green mold decay caused by Penicillium digitatum. Techniques based on random amplified polymorphic DNA (RAPD) and arbitrary primed polymerase chain reaction (ap-PCR), as well as homologies between sequences of the rDNA internal transcribed spacers (ITS) and 5.8S gene, were used to characterize the composition of the yeast population and to determine the genetic relationship among predominant yeast species. Epiphytic yeasts exhibiting the highest biocontrol activity against P. digitatum on grapefruit were identified as Candida guilliermondii, C. oleophila, C. sake, and Debaryomyces hansenii, while C. guilliermondii was the most predominant species. RAPD and ap-PCR analysis of the osmotolerant yeast population showed two different, major groups. The sequences of the ITS regions and the 5.8S gene of the yeast isolates, previously identified as belonging to different species, were found to be identical. Following the need to develop a genetically marked strain of the yeast C. oleophila, to be used in population dynamics studies, a transformation system for the yeast was developed. Histidine auxotrophy of C. oloephila produced using ethyl methanesulfonate were transformed with plasmids containing HIS3, HIS4 and HIS5 genes from Saccharomyces cerevisiae. In one mutant histidin auxotrophy was complemented by the HIS5 gene of S. cerevisiae is functionally homologous to the HIS5 gene in V. oleophila. Southern blot analysis showed that the plasmid containing the S. cerevisiae HIS5 gene was integrated at a different location every C. oleophila HIS+ transformant. There were no detectable physiological differences between C. oleophila strain I-182 and the transformants. The biological control ability of C. oleophila was not affected by the transformation. A genetically marked (with b-glucuronidase gene) transformant of C. oleophila colonized wounds on orange fruits and its population increased under field conditions. Effect of preharvest application of the yeast C. oleophila on population dynamics of epiphytic microbial population on wounded and unwounded grapefruit surface in the orchard and after harvest was also studied. In addition, the effect of preharvest application of the yeast C. oleophila on the development of postharvest decay was evaluated. Population studies conducted in the orchard showed that in control, non-treated fruit, colonization of wounded and unwounded grapefruit surface by naturally occurring filamentous fungi did not vary throughout the incubation period on the tree. On the other hand, colonization of intact and wounded fruit surface by naturally occurring yeasts was different. Yeasts colonized wounded surface rapidly and increased in numbers to about two orders of magnitude as compared to unwounded surface. On fruit treated with the yeast and kept on the tree, a different picture of fungal and yeast population had emerged. The detected fungal population on the yeast-treated intact surface was dramatically reduced and in treated wounds no fungi was detected. Yeast population on intact surface was relatively high immediately after the application of AspireTM and decreased to than 70% of that detected initially. In wounds, yeast population increased from 2.5 x 104 to about 4x106 after 72 hours of incubation at 20oC. Results of tests conducted to evaluate the effect of preharvest application of AspireTM on the development of postharvest decay indicated the validity of the approach.

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Moore, Gloria A., Gozal Ben-Hayyim, Charles L. Guy e Doron Holland. Mapping Quantitative Trait Loci in the Woody Perennial Plant Genus Citrus. United States Department of Agriculture, maggio 1995. http://dx.doi.org/10.32747/1995.7570565.bard.

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As is true for all crops, production of Citrus fruit is limited by traits whose characteristics are the products of many genes (i.e. cold hardiness). In order to modify these traits by marker aided selection or molecular genetic techniques, it is first necessary to map the relevant genes. Mapping of quantitative trait loci (QTLs) in perennial plants has been extremely difficult, requiring large numbers of mature plants. Production of suitable mapping populations has been inhibited by aspects of reproductive biology (e.g. incompatibility, apomixis) and delayed by juvenility. New approaches promise to overcome some of these obstacles. The overall objective of this project was to determine whether QTLs for environmental stress tolerance could be effectively mapped in the perennial crop Citrus, using an extensive linkage map consisting of various types of molecular markers. Specific objectives were to: 1) Produce a highly saturated genetic linkage map of Citrus by continuing to place molecular markers of several types on the map. 2) Exploiting recently developed technology and already characterized parental types, determine whether QTLs governing cold acclimation can be mapped using very young seedling populations. 3) Determine whether the same strategy can be transferred to a different situation by mapping QTLs influencing Na+ and C1- exclusion (likely components of salinity tolerance) in the already characterized cross and in new alternative crosses. 4) Construct a YAC library of the citrus genome for future mapping and cloning.

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Chamovitz, A. Daniel, e Georg Jander. Genetic and biochemical analysis of glucosinolate breakdown: The effects of indole-3-carbinol on plant physiology and development. United States Department of Agriculture, gennaio 2012. http://dx.doi.org/10.32747/2012.7597917.bard.

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Genetic and biochemical analysis of glucosinolate breakdown: The effects of indole-3-carbinol on plant physiology and development Glucosinolates are a class of defense-related secondary metabolites found in all crucifers, including important oilseed and vegetable crops in the Brassica genus and the well-studied model plant Arabidopsis thaliana. Upon tissue damage, such as that provided by insect feeding, glucosinolates are subjected to catalysis and spontaneous degradation to form a variety of breakdown products. These breakdown products typically have a deterrent effect on generalist herbivores. Glucosinolate breakdown products also contribute to the anti-carcinogenic effects of eating cabbage, broccoli and related cruciferous vegetables. Indole-3-carbinol, a breakdown product of indol-3-ylmethylglucosinolate, forms conjugates with several other plant metabolites. Although some indole-3-carbinol conjugates have known functions in defense against herbivores and pathogens, most play as yet unidentified roles in plant metabolism, and possibly also plant development. At the outset, our proposal had three main hypotheses: (1) There is a specific detoxification pathway for indole-3-carbinol; (2) Metabolites derived from indole-3-carbinol are phloem-mobile and serve as signaling molecules; and (3) Indole-3-carbinol affects plant cell cycle and cell-differentiation pathways. The experiments were designed to enable us to elucidate how indole-3-carbinol and related metabolites affect plants and their interactions with herbivorous insects. We discovered that indole-3- carbinol rapidly and reversibly inhibits root elongation in a dose-dependent manner, and that this inhibition is accompanied by a loss of auxin activity in the root meristem. A direct interaction between indole-3-carbinol and the auxin perception machinery was suggested, as application of indole-3-carbinol rescued auxin-induced root phenotypes. In vitro and yeast-based protein interaction studies showed that indole-3-carbinol perturbs the auxin-dependent interaction of TIR1 with Aux/IAA proteins, supporting the notion that indole-3-carbinol acts as an auxin antagonist. Furthermore, transcript profiling experiments revealed the influence of indole-3-carbinol on auxin signaling in root tips, and indole-3-carbinol also affected auxin transporters. Brief treatment with indole-3-carbinol led to a reduction in the amount of PIN1 and to mislocalization of PIN2. The results indicate that chemicals induced by herbivory, such as indole-3-carbinol, function not only to repel herbivores, but also as signaling molecules that directly compete with auxin to fine tune plant growth and development, which implies transport of indole-3- carbinol that we are as yet unsuccessful in detecting. Our results indicate that plant defensive metabolites also have secondary functions in regulating aspects of plant metabolism, thereby providing diversity in defense-related plant signaling pathways. Such diversity of of signaling by defensive metabolites would be beneficial for the plant, as herbivores and pathogens would be less likely to mount effective countermeasures. We propose that growth arrest can be mediated directly by the herbivory-induced chemicals, in our case, indole-3-carbinol. Thus, glucosinolate breakdown to I3C following herbivory would have two outcomes: (1) Indole-3-carbinaol would inhibit the herbivore, while (2) at the same time inducing growth arrest within the plant. Thus, our results indicate that I3C is a defensive phytohormone that modulates auxin signaling, leading to growth arrest.

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