Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians-Reference-Cited by-同舟云学术

Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians

Published:2022-06-10 Issue:10 Volume:30 Page:1159-1166
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Muller Yunhua L.^ORCID,Saporito Michael,Day Samantha,Bandesh Khushdeep^ORCID,Koroglu Cigdem,Kobes Sayuko,Knowler William C.,Hanson Robert L.^ORCID,Van Hout Cristopher V.,Shuldiner Alan R.,Bogardus Clifton,Baier Leslie J.,

Funder

Intramural Research Programme of National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.

Regeneron Pharmaceuticals

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01129-3.pdf

Reference31 articles.

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2. Janecka A, Kołodziej-Rzepa M, Biesaga B. Clinical and molecular features of laron syndrome, a genetic disorder protecting from cancer. Vivo. 2016;30:375–81.

3. Boucher J, Mori MA, Lee KY, Smyth G, Liew CW, Macotela Y, et al. Impaired thermogenesis and adipose tissue development in mice with fat-specific disruption of insulin and IGF-1 signalling. Nat Commun. 2012;3:902.

4. Maridas DE, DeMambro VE, Le PT, Mohan S, Rosen CJ. IGFBP4 is required for adipogenesis and influences the distribution of adipose depots. Endocrinology. 2017;158:3488–500.

5. Knowler WC, Pettitt DJ, Saad MF, Bennett PH. Diabetes mellitus in the Pima Indians: incidence, risk factors and pathogenesis. Diabetes Metab Rev. 1990;6:1–27.

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1. Happy 30th birthday to the European Journal of Human Genetics!;European Journal of Human Genetics;2022-10