Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2011

Zazo Celia, Thiele Susanne, Martín Cesar, Fernandez-Rebollo Eduardo, Martinez-Indart Lorea, Werner Ralf, Garin Intza, Hiort Olaf, Perez de Nanclares Guiomar

Abstract excerpt

In pseudohypoparathyroidism (PHP), PTH resistance results from impairment of signal transduction of G protein-coupled receptors caused by a deficiency of the Gsα-cAMP signaling cascade due to diminished Gsα activity in maternally imprinted tissues. In PHP-Ia, inactivating mutations of the GNAS gene lead to haploinsufficiency in some tissues with biallelic expression, so in addition to PHP, Albright's hereditary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromogranins
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Erythrocyte Membrane

Share to Genetic Loci

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Immunoblotting

Share to Infant

Share to Pseudohypoparathyroidism

Source

Identifiers

PMID: 21351142
DOI: 10.1002/jbmr.369

Genes

GNAS
PTH

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.PMID 21351142Read ↗

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.Semantic proximity Read ↗

Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.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 epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.Semantic proximity Read ↗

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

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.Semantic proximity Read ↗

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.Semantic proximity Read ↗

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Semantic proximity Read ↗

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.Semantic proximity Read ↗

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.Semantic proximity Read ↗

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.