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

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.

Clinical endocrinology - 1 May 2012

Yi Hyon-Seung, Eom Young Sil, Park Ie Byung, Lee Sangho, Hong Suntaek, Jüppner Harald, Mannstadt Michael, Lee Sihoon

Abstract excerpt

OVERVIEW: Glial cells missing B (GCMB) is a transcription factor that is expressed in the parathyroid hormone (PTH)-secreting cells of the parathyroid glands. Several mutations in GCMB have been reported to cause hypoparathyroidism (HP). We identified a family with two individuals in two generations (mother and son), who are affected by autosomal-dominant hypoparathyroidism (AD-HP). A novel heterozygous mutation...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genes, Dominant

Share to HEK293 Cells

Share to Hypoparathyroidism

Share to Nucleic Acid Conformation

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 22066718
DOI: 10.1111/j.1365-2265.2011.04256.x
PMCID: PMC3701386

Genes

PTH
GATA3

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

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.PMID 22066718Read ↗

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Semantic proximity Read ↗

A MissenseGlial Cells Missing Homolog B(GCMB) Mutation, Asn502His, Causes Autosomal Dominant HypoparathyroidismSemantic proximity Read ↗

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.Semantic proximity Read ↗

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.Semantic proximity Read ↗

Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.Semantic proximity Read ↗

Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.Semantic proximity Read ↗

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.Semantic proximity Read ↗

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMBSemantic proximity Read ↗

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.Semantic proximity Read ↗

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.Semantic proximity Read ↗

The hypoparathyroidism-associated mutation in Drosophila Gcm compromises protein stability and glial cell formation.Semantic proximity Read ↗

Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid AdenomasSemantic proximity Read ↗

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