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

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

European journal of human genetics : EJHG - 1 Apr 2015

Rezwan Faisal I, Poole Rebecca L, Prescott Trine, Walker Joanna M, Karen Temple I, Mackay Deborah J G

Abstract excerpt

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed from the maternal allele, and the paternally expressed XLas, A/B and antisense transcripts. PHP1b can be caused by loss of...

Read the complete abstract on PubMed

Topics

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

Share to Chromogranins
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genetic Loci

Share to Genomic Imprinting

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Multigene Family

Share to Pseudohypoparathyroidism

Source

Open in PubMed Open full text

Identifiers

PMID: 25005734
DOI: 10.1038/ejhg.2014.133
PMCID: PMC4247793

Genes

GNAS
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.PMID 25005734Read ↗

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

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

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Semantic proximity Read ↗

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.Semantic proximity Read ↗

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

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.Semantic proximity Read ↗

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.Semantic proximity Read ↗

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.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 ↗

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

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