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

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

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

Fernández-Rebollo Eduardo, Pérez de Nanclares Guiomar, Lecumberri Beatriz, Turan Serap, Anda Emma, Pérez-Nanclares Gustavo, Feig Denice, Nik-Zainal Serena, Bastepe Murat, Jüppner Harald

Abstract excerpt

Most patients with autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib) carry maternally inherited microdeletions upstream of GNAS that are associated with loss of methylation restricted to GNAS exon A/B. Only few AD-PHP-Ib patients carry microdeletions within GNAS that are associated with loss of all maternal methylation imprints. These epigenetic changes are often indistinguishable from those...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Chromogranins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Genes, Recessive

Share to Genetic Loci

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Pseudohypoparathyroidism

Source

Open in PubMed Open full text

Identifiers

PMID: 21523828
DOI: 10.1002/jbmr.408
PMCID: PMC3814169

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?PMID 21523828Read ↗

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

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.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 ↗

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).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 ↗

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.Semantic proximity Read ↗

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

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.Semantic proximity Read ↗

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.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 ↗

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

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