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TBX19 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. Zusätzlich bieten wir Ihnen T-Box 19 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Identification of nine new TPIT mutations in a large series of congenital isolated ACTH (zeige POMC Antikörper)-deficiency patients.
TPIT is identified as a target autoantigen in 10.5% of patients with lymphocytic hypophysitis.
The coordinate expression of Etv1 (zeige ETV1 Antikörper) with POMC (zeige POMC Antikörper) cell differentiation and its interaction with the highly cell-restricted Tpit factor indicate that Etv1 (zeige ETV1 Antikörper) participates in a combinatorial code for pituitary cell-specific gene expression.
Review. Association of 2 mutations with an ACTH (zeige POMC Antikörper) deficiency is consistent with the role of tbx19 in differentiation of POMC (zeige POMC Antikörper) cells.
TPIT has a role in expression of the pro-opiomelanocortin (zeige POMC Antikörper) gene and terminal differentiation of the pituitary corticotroph lineage, and its mutation causes early onset pituitary ACTH (zeige POMC Antikörper) deficiency
Tpit, along with NGFI-B (zeige NR4A1 Antikörper) and SRC-2 (zeige NCOA2 Antikörper), is part of a transcription regulatory complex assembled on the POMC (zeige POMC Antikörper) promoter in response to hormonal stimulation.
mutations in the TPIT gene, a T-box factor selectively expressed in developing corticotroph cells, have been found in cases of early-onset isolated ACTH (zeige POMC Antikörper) deficiency
TPIT gene mutations is the principal molecular cause of neonatal congenital isolated ACTH (zeige POMC Antikörper) deficiency
We report largest series of congenital ACTH (zeige POMC Antikörper) deficiency and demonstrate molecular mechanism involves Tpit in majority of cases.
Overtransmission of a haplotype GAC (zeige GLS Antikörper) at the TBX19 locus was associated with increased angry/hostility scores among suicide attempters.
Tpit has a role as a negative regulator of gonadotroph differentiation in developing mouse
Tpit and NeuroD1 (zeige NEUROD1 Antikörper) are not essential for early corticotroph commitment. There are different levels of control for commitment of POMC (zeige POMC Antikörper) lineages compared to cell survival or to cell-specific transcription of POMC (zeige POMC Antikörper).
the M86R TPIT mutation is defining an important surface of the T domain for multiple protein interactions and for transcription
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure.
, T-box transcription factor TBX19-like
, T-box factor, pituitary
, T-box protein 19
, T-box transcription factor TBX19
, TBS 19
, T-box containing protein
, T-box-containing protein TBXT
, T-box transcription factor 19