Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L et al.
European Journal of Endocrinology, 2022
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.
D'Agruma L et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
Mitsui T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
Yi HS et al.
Clinical Endocrinology, 2012
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
Mirczuk SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR et al.
Human Molecular Genetics, 2010
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
Tomar N et al.
European Journal of Endocrinology, 2010
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
Canaff L et al.
Human Mutation, 2009
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
Mannstadt M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
Maret A et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
Sticht H et al.
Medical Hypotheses, 2006
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Baumber L et al.
Journal of Medical Genetics, 2005