Associated Papers
Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.
Koca SB et al.
Archives of Endocrinology and Metabolism, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Role of the Beta and Gamma Isoforms of the Adapter Protein SH2B1 in Regulating Energy Balance.
Argetsinger LS et al.
Endocrinology, 2023
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
da Fonseca ACP et al.
Eating and Weight Disorders : Ewd, 2022
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
Scimone C et al.
International Journal of Molecular Sciences, 2020
32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1
Phenotypic and genetic analysis of an adult cohort with extreme obesity.
Stahel P et al.
International Journal of Obesity (2005), 2019
The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.
Giuranna J et al.
Obesity Facts, 2018
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
Genetic and structural variation in the SH2B1 gene in the Belgian population.
Aerts E et al.
Molecular Genetics and Metabolism, 2015
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
Philippe J et al.
International Journal of Obesity (2005), 2015
Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.
Pearce LR et al.
Endocrinology, 2014
Select a paper to view details