The molecular genetic basis of the neuronal ceroid lipofuscinoses

2000 ◽  
Vol 21 (0) ◽  
pp. S15-S19 ◽  
Author(s):  
R.M. Gardiner
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Molecular Genetic Basis

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals A Molecular Genetic Basis Explaining Altered Bacterial Behavior in Space

PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0164359 ◽  
Author(s):  
Luis Zea ◽  
Nripesh Prasad ◽  
Shawn E. Levy ◽  
Louis Stodieck ◽  
Angela Jones ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Molecular Genetic Basis

Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome

2021 ◽  
pp. 14-26
Author(s):  
Д.Д. Надыршина ◽  
А.В. Тюрин ◽  
Э.К. Хуснутдинова ◽  
Р.И. Хусаинова
Keyword(s):  
Genetic Counseling ◽  
Family Medicine ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Hereditary Disease ◽  
Orphan Diseases ◽  
Ehlers Danlos Syndrome ◽  
General Medical Practice ◽  
Molecular Genetic Basis ◽  
Danlos Syndrome

Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики. The article is devoted to the discussion of approaches to the classification and review of the available literature data on clinical variability and the molecular genetic basis of the pathogenesis of a rare hereditary disease - Ehlers-Danlos syndrome. The presented review will expand the understanding of the pathogenesis and allow to optimize the diagnosis of this syndrome, to determine the tactics of treatment and medical and genetic counseling of burdened families, both to clinical geneticists, specialists in the study of orphan diseases, and to general practitioners, specialists in family medicine and general medical practice.

scholarly journals Genetic and Molecular Genetic Basis of Nuclear-Plastid Incompatibilities

Plants ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. 23
Author(s):  
Vera S. Bogdanova
Keyword(s):  
Experimental Design ◽  
Genetic Analysis ◽  
Genetic Mapping ◽  
Genetic Background ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Number Of Species ◽  
Molecular Genetic Basis ◽  
Nuclear Loci

Genetic analysis of nuclear-cytoplasm incompatibilities is not straightforward and requires an elaborated experimental design. A number of species have been genetically studied, but notable advances in genetic mapping of nuclear loci involved in nuclear-plastid incompatibility have been achieved only in wheat and pea. This review focuses on the study of the genetic background underlying nuclear-plastid incompatibilities, including cases where the molecular genetic basis of such incompatibility has been unveiled, such as in tobacco, Oenothera, pea, and wheat.

THE MOLECULAR GENETIC BASIS OF HOST RESISTANCE TO STRIGA SPECIES: A WAY FORWARD

2007 ◽  
pp. 173-184 ◽  
Author(s):  
Julie D. Scholes ◽  
Philip J. Swarbrick ◽  
Jon Slate ◽  
Malcolm C. Press
Keyword(s):  
Host Resistance ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Molecular Genetic Basis

Phylogeography of stream-dwelling trout in the Republic of Macedonia and a molecular genetic basis for revision of the taxonomy proposed by S. Karaman

Hydrobiologia ◽  
2016 ◽  
Vol 785 (1) ◽  
pp. 249-260 ◽  
Author(s):  
Saša Marić ◽  
Simona Sušnik Bajec ◽  
Johannes Schöffmann ◽  
Vasil Kostov ◽  
Aleš Snoj
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Republic Of Macedonia ◽  
Molecular Genetic Basis ◽  
The Republic
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