Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
about
Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future researchCalcium-Sensing Receptor Gene: Regulation of ExpressionIdentification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Thymus-associated parathyroid hormone has two cellular origins with distinct endocrine and immunological functions.Generation of mice encoding a conditional null allele of Gcm2.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishA Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.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.The hypoparathyroidism-associated mutation in Drosophila Gcm compromises protein stability and glial cell formation.Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],a new hemoglobin variant of the α2-globin gene.MafB interacts with Gcm2 and regulates parathyroid hormone expression and parathyroid development.
P2860
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P2860
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
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
Identification of a novel muta ...... al isolated hypoparathyroidism
@ast
Identification of a novel muta ...... al isolated hypoparathyroidism
@en
Identification of a novel muta ...... al isolated hypoparathyroidism
@en-gb
Identification of a novel muta ...... al isolated hypoparathyroidism
@nl
type
label
Identification of a novel muta ...... al isolated hypoparathyroidism
@ast
Identification of a novel muta ...... al isolated hypoparathyroidism
@en
Identification of a novel muta ...... al isolated hypoparathyroidism
@en-gb
Identification of a novel muta ...... al isolated hypoparathyroidism
@nl
prefLabel
Identification of a novel muta ...... al isolated hypoparathyroidism
@ast
Identification of a novel muta ...... al isolated hypoparathyroidism
@en
Identification of a novel muta ...... al isolated hypoparathyroidism
@en-gb
Identification of a novel muta ...... al isolated hypoparathyroidism
@nl
P2093
P3181
P356
P1476
Identification of a novel muta ...... al isolated hypoparathyroidism
@en
P2093
P3181
P356
10.1136/JMG.2004.026898
P407
P577
2005-05-01T00:00:00Z