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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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TBX19 mRNA expression was significantly increased in tumorous tissues compared to that in non-tumorous tissues, and increased TBX19 mRNA expression was associated with positive lymph node metastasis.
Identification of nine new TPIT mutations in a large series of congenital isolated ACTH-deficiency patients.
TPIT is identified as a target autoantigen in 10.5% of patients with lymphocytic hypophysitis.
The coordinate expression of Etv1 with POMC cell differentiation and its interaction with the highly cell-restricted Tpit factor indicate that Etv1 participates in a combinatorial code for pituitary cell-specific gene expression.
Review. Association of 2 mutations with an ACTH deficiency is consistent with the role of tbx19 in differentiation of POMC cells.
TPIT has a role in expression of the pro-opiomelanocortin gene and terminal differentiation of the pituitary corticotroph lineage, and its mutation causes early onset pituitary ACTH deficiency
Tpit, along with NGFI-B and SRC-2, is part of a transcription regulatory complex assembled on the POMC 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 deficiency
TPIT gene mutations is the principal molecular cause of neonatal congenital isolated ACTH deficiency
We report largest series of congenital ACTH deficiency and demonstrate molecular mechanism involves Tpit in majority of cases.
a new mutation (IVS4+1G>A) that affects the first nucleotide of the splice site at the 5' end of the fourth intron in isolated adrenocorticotropic hormone deviciency
Overtransmission of a haplotype GAC at the TBX19 locus was associated with increased angry/hostility scores among suicide attempters.
the M86R TPIT mutation is defining an important surface of the T domain for multiple protein interactions and for transcription
Tpit has a role as a negative regulator of gonadotroph differentiation in developing mouse
Tpit and NeuroD1 are not essential for early corticotroph commitment. There are different levels of control for commitment of POMC lineages compared to cell survival or to cell-specific transcription of POMC.
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