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Article

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.

Human molecular genetics - 1 Jan 2005

Liu Jie, Nealon Julie G, Weinstein Lee S

Abstract excerpt

Pseudohypoparathyroidism type IB (PHPIB) is associated with abnormal imprinting of GNAS, the gene encoding the heterotrimeric G protein Gsalpha and other alternative products. The gene contains three differentially methylated regions (DMRs) located upstream of the Gsalpha promoter (from upstream...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 15537666
DOI: 10.1093/hmg/ddi009

Genes

GNAS
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15537666-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.PMID 15537666Read ↗

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.Semantic proximity Read ↗

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