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Article

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

The Journal of clinical endocrinology and metabolism - 1 Aug 2017

Grüters-Kieslich Annette, Reyes Monica, Sharma Amita, Demirci Cem, DeClue Terry J, Lankes Erwin, Tiosano Dov, Schnabel Dirk, Jüppner Harald

Abstract excerpt

Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Epigenesis, Genetic

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Multiplex Polymerase Chain Reaction

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Source

Open in PubMed Open full text

Identifiers

PMID: 28453643
DOI: 10.1210/jc.2017-00395
PMCID: PMC5546863

Genes

GNAS
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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