GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone
about
Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future researchCalcium-Sensing Receptor Gene: Regulation of ExpressionGata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordiaGCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretionGeneration of mice encoding a conditional null allele of Gcm2.A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.Hypoparathyroidism and pseudohypoparathyroidism.Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.An evolutionary conserved interaction between the Gcm transcription factor and the SF1 nuclear receptor in the female reproductive system.The hypoparathyroidism-associated mutation in Drosophila Gcm compromises protein stability and glial cell formation.Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells.Expression of parathyroid-specific genes in vascular endothelial progenitors of normal and tumoral parathyroid glands.Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.MafB interacts with Gcm2 and regulates parathyroid hormone expression and parathyroid development.
P2860
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P2860
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@ast
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en-gb
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@nl
type
label
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@ast
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en-gb
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@nl
prefLabel
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@ast
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en-gb
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@nl
P2093
P3181
P356
P1476
GCMB mutation in familial isol ...... cretion of parathyroid hormone
@en
P2093
Caroline Thomée
Jasmine Parma
Marc J Abramowicz
Phu Quoc Lê
Said Hashemolhosseini
Steffen W Schubert
P304
P3181
P356
10.1210/JC.2004-2450
P407
P577
2005-05-01T00:00:00Z