Associated Papers
Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Shoji T et al.
Frontiers in Endocrinology, 2024
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.
Enya M et al.
Human Mutation, 2008
Small heterodimer partner, an orphan nuclear receptor, augments peroxisome proliferator-activated receptor gamma transactivation.
Nishizawa H et al.
The Journal of Biological Chemistry, 2002
Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
Nishigori H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001
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