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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 to downstream): the paternally methylated NESP55 promoter region, the maternally methylated NESP antisense...

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Methodology Data sources Editorial policy Privacy Delete account & data 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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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 ↗

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.Semantic proximity Read ↗

PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.Semantic proximity Read ↗

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.Semantic proximity Read ↗

Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus.Semantic proximity Read ↗

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

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The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.Semantic proximity Read ↗

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An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Semantic proximity Read ↗

Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.Semantic proximity Read ↗

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