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GCM2 is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. Zusätzlich bieten wir Ihnen und und viele weitere Produktgruppen zu diesem Protein an.
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Overexpression of gcm2 mRNA resulted in a significant increase in the numbers of ecac (zeige TRPV6 Antikörper)-expressing ionocytes and Ca2 (zeige CA2 Antikörper)+ uptake.
PTH1 (zeige PTH Antikörper) morphants failed to express gcm2. Coinjection of PTH1 (zeige PTH Antikörper) morpholino with gcm2 capped RNA rescued the phenotypes observed in the PTH1 (zeige PTH Antikörper) morphants, suggesting that the defects in PTH1 (zeige PTH Antikörper)-deficient fish were caused, at least in part, by the suppression of gcm2.
Results suggest that an acquisition of enhancers for the expression of gcm2 contributes to a diversity of ionocytes in zebrafish during evolution.
role of Shh (zeige SHH Antikörper) signalling in patterning the pharyngeal pouches and in restricting the expression of the parathyroid marker Gcm2 in the pharyngeal epithelium
Results suggest a role for glial cells missing 2 during the evolution of divergent pharyngeal morphologies.
Gcm-2 is required for the formation of the internal gill buds in zebrafish
The transcription factor, glial cell missing 2, is involved in differentiation and functional regulation of H+-ATPase (zeige ATP6AP1 Antikörper)-rich cells in zebrafish.
The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA).
GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone (zeige PTH Antikörper) levels, a greater rate of multigland disease, a lesser rate of biochemical cure
Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism.
Gata3 (zeige GATA3 Antikörper) interacted with Gcm2 and MafB (zeige MAFB Antikörper), two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH (zeige PTH Antikörper) promoter.
The higher frequency of GCM2 282D in primary hyperparathyroidismand enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis
we identified the genetic defect in 35% of hypoparathyroidism patients in our cohort and discovered novel GCM2 mutations including submicroscopic deletion that was undetectable by array comparative genomic hybridization
Four single nucleotide polymorphisms of GCMB gene were found in the GCMB gene (c.-44T > C [rs16870746], c.91-242A > G [rs9379881], c.343+163G > A [rs9393726], and c.583-72A > T [rs2076257]) in our cohort.
First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism.
Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB).
We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of primary hyperparathyroidism.
results suggest that MafB (zeige MAFB Antikörper) regulates later steps of parathyroid development, that is, separation from the thymus and migration toward the thyroid. MafB (zeige MAFB Antikörper) also regulates the expression of PTH (zeige PTH Antikörper) in cooperation with Gcm2
Gcm2 (glial cells missing 2) are involved in the epigenetic regulation of Hes5 (zeige HES5 Antikörper) transcription by DNA demethylation independently of DNA replication.
GCM (zeige GCM1 Antikörper) domain as a new type of Zn-coordinating, sequence-specific DNA-binding domain.
Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia.
This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism.
chorion-specific transcription factor GCMb
, glial cells missing 2
, gcmB transcription factor
, glial cell missing-like protein
, transcription factor glial cells missing-2
, transcription factor Glial cells missing-2
, glial cells missing protein homolog 2
, glial cells missing homolog 2
, GCM motif protein 2
, glial cells missing homolog b
, glide/gcm protein homolog