Obesity-Associated GNAS Mutations and the Melanocortin Pathway | Zendy

Edson Mendes de Oliveira | Zendy; Julia M. Keogh | Zendy; Fleur Talbot | Zendy; Elana Henning | Zendy; Rachel R. Ahmed | Zendy; Aliki Perdikari | Zendy; Rebecca Bounds | Zendy; Natalia Wasiluk | Zendy; V. Ayinampudi | Zendy; Inês Barroso | Zendy; Jacek Mokrosiński | Zendy; Deepthi Jyothish | Zendy; Sharon Lim | Zendy; Sanjay Gupta | Zendy; Melanie Kershaw | Zendy; Cristina Matei | Zendy; Praveen Partha | Zendy; T. Randell | Zendy; Antoinette McAulay | Zendy; Louise C. Wilson | Zendy; Tim Cheetham | Zendy; Elizabeth Crowne | Zendy; Peter Clayton | Zendy; I. Sadaf Farooqi | Zendy

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Obesity-Associated GNAS Mutations and the Melanocortin Pathway

Author(s) -

Edson Mendes de Oliveira,

Julia M. Keogh,

Fleur Talbot,

Elana Henning,

Rachel R. Ahmed,

Aliki Perdikari,

Rebecca Bounds,

Natalia Wasiluk,

V. Ayinampudi,

Inês Barroso,

Jacek Mokrosiński,

Deepthi Jyothish,

Sharon Lim,

Sanjay Gupta,

Melanie Kershaw,

Cristina Matei,

Praveen Partha,

T. Randell,

Antoinette McAulay,

Louise C. Wilson,

Tim Cheetham,

Elizabeth Crowne,

Peter Clayton,

I. Sadaf Farooqi

Publication year - 2021

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa2103329

Subject(s) - gnas complex locus , melanocortin 4 receptor , obesity , melanocortin , medicine , genetics , biology , endocrinology , gene , hormone

GNAS encodes the Gα s (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's hereditary osteodystrophy. Because of imprinting, mutations on the maternal allele also cause obesity and hormone resistance (pseudohypoparathyroidism).

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