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PubMed 28627419 ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons. The Aristaless-relate 1.92 KB 2019-09-23 28 21
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PubMed 28597146 Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrot 2.32 KB 2019-09-23 30 20
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PubMed 28592524 Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. BACKGROUND: Congenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great p 1.44 KB 2019-09-23 28 9
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PubMed 28589954 WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Human WNT10A mutations are associated with developmental tooth abnormalities a 1.18 KB 2019-09-23 40 13
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PubMed 28548960 Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis. Lipoprotein lipase (LPL) 1.65 KB 2019-09-23 28 36
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PubMed 28543872 PAI-1 gain-of-function genotype, factors increasing PAI-1 levels, and airway obstruction: The GALA II Cohort. BACKGROUND: PAI-1 gain-of-function variants promote airway fibrosis and are associated wit 2.12 KB 2019-09-23 29 11
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PubMed 28533163 GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors. De novo gain of function mutations in GRIN2B encoding the GluN2B sub 1.81 KB 2019-09-23 28 9
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PubMed 28525834 Exposure to phenols, parabens and UV filters: Associations with loss-of-function mutations in the filaggrin gene in men from the general population. BACKGROUND: Filaggrin is an epidermal protein that 1.93 KB 2019-09-23 28 9
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PubMed 28525545 Gene Co-Expression Network Analysis for Identifying Modules and Functionally Enriched Pathways in SCA2. Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused b 1.36 KB 2019-09-23 28 7
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PubMed 28512217 Loss of the homologous recombination gene rad51 leads to Fanconi anemia-like symptoms in zebrafish. RAD51 is an indispensable homologous recombination protein, necessary for strand invasion and crossi 1.52 KB 2019-09-23 30 15
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