Výsledky vyhľadávania - Monogenic and polygenic functions of one complex variable

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency Autor Ranjbarnejad, Tayebeh, Abolhassani, Hassan, Sherkat, Roya, Salehi, Mansoor, Ranjbarnejad, Fatemeh, Vatandoost, Nasimeh, Sharifi, Mohammadreza

“… Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in unsolved patients…”
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Type 2 diabetes: a multifaceted disease Autor Pearson, Ewan R.

“… (such as beta cell function or insulin resistance) or using partitioned polygenic scores, and addresses recent work that clusters type 2 diabetes into distinct subgroups…”
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Rare genetic causes of complex kidney and urological diseases Autor Groopman, Emily E, Povysil, Gundula, Goldstein, David B, Gharavi, Ali G

“… abnormal kidney structure and/or function, and encompass both monogenic and polygenic aetiologies…”
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A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST) Autor Morgenthaler, Stephan, Thilly, William G

“… A statistical model is presented that defines the ability of such tests to detect significant gene-disease relationships as a function of case and control cohort sizes and key confounding variables…”
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Mapping the molecular and cellular complexity of cortical malformations Autor Klingler, Esther, Francis, Fiona, Jabaudon, Denis, Cappello, Silvia

“… Cortical functions rely on specialized neurons that emerge during development from complex molecular and cellular interactions…”
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Three-dimensional structural location and molecular functional effects of missense SNPs in the T cell receptor Vbeta domain Autor Wang, Zhen, Moult, John

“… In a previous study, we developed a structure-based model that may be used to identify which missense SNPs are neutral and which are deleterious to protein function and so potentially involved in disease…”
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Studying the Genetics of Mendelian and Complex Traits With High-Throughput Genotyping and Sequencing in Cattle Autor Li, Wanbo

“… for both monogenic and polygenic traits. The availability of high-density SNP arrays considerably accelerated the gene mapping process…”
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New frontiers in primary immunodeficiency disorders: immunology and beyond Autor Gambineri, Eleonora

“…]. PIDs are generally monogenic disorders with a Mendelian inheritance, although a more complex polygenic origin has been described in some cases…”
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Novel Roles for ANKS1B in the Pathogenesis of Neurodevelopmental Disorders Autor Carbonell, Abigail U

“…Neurodevelopmental disorders, including autism spectrum disorder (ASD), have complex polygenic and environmental etiologies…”
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Chargaff's second parity rule lies at the origin of additive genetic interactions in quantitative traits to make natural selection possible Autor Matkarimov, Bakhyt T, Saparbaev, Murat K

“…A major challenge of modern biology is to understand how random genetic variation causes phenotypic variation in quantitative traits. Chargaff's Second Parity…”
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