Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
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
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
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
Thomée C et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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