| Heterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs. | Heterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs.
Uccella S, Leoni E, Kaiser S, Maragliano R, Valerio A, Libera L, Tanda ML, Volante M, Diviani D, La Rosa S. | 12/20/2023 |
| A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin. | A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T, Mougel G, Amouroux C, Gueorguieva I, Joubert F, Pertuit M, Reynaud R, Barlier A, Brue T, Saveanu A., Free PMC Article | 03/27/2023 |
| TRIM65 determines the fate of a novel subtype of pituitary neuroendocrine tumors via ubiquitination and degradation of TPIT. | TRIM65 determines the fate of a novel subtype of pituitary neuroendocrine tumors via ubiquitination and degradation of TPIT.
Yao H, Xie W, Dai Y, Liu Y, Gu W, Li J, Wu L, Xie J, Rui W, Ren B, Xue L, Cheng Y, Lin S, Li C, Tang H, Wang Y, Lou M, Zhang X, Hu R, Shang H, Huang J, Wu ZB., Free PMC Article | 08/6/2022 |
| T-box transcription factor 19 promotes hepatocellular carcinoma metastasis through upregulating EGFR and RAC1. | T-box transcription factor 19 promotes hepatocellular carcinoma metastasis through upregulating EGFR and RAC1.
Ji X, Chen X, Zhang B, Xie M, Zhang T, Luo X, Liu D, Feng Y, Wang Y, Sun M, Li C, Huang W, Xia L. | 04/23/2022 |
| [Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency]. | [Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].
Wu S, Chen Q, Shen L, Wei H, Chen Y. | 01/30/2021 |
| A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation. | A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
Kardelen Al AD, Poyrazoğlu Ş, Aslanger A, Yeşil G, Ceylaner S, Baş F, Darendeliler F. | 07/11/2020 |
| A new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT (T-box pituitary restricted transcription factor )deficiency, as in this patient. [review] | Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Abali ZY, Yesil G, Kirkgoz T, Kaygusuz SB, Eltan M, Turan S, Bereket A, Guran T. | 01/25/2020 |
| 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. | TBX19 is overexpressed in colorectal cancer and associated with lymph node metastasis.
Ando J, Saito M, Imai JI, Ito E, Yanagisawa Y, Honma R, Saito K, Tachibana K, Momma T, Ohki S, Ohtake T, Watanabe S, Waguri S, Kono K, Takenoshita S., Free PMC Article | 08/11/2018 |
| Identification of nine new TPIT mutations in a large series of congenital isolated ACTH-deficiency patients. | Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Flück CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S. | 07/7/2012 |
| TPIT is identified as a target autoantigen in 10.5% of patients with lymphocytic hypophysitis. | Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays.
Smith CJ, Bensing S, Burns C, Robinson PJ, Kasperlik-Zaluska AA, Scott RJ, Kämpe O, Crock PA., Free PMC Article | 04/21/2012 |
| 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. | The Ets factor Etv1 interacts with Tpit protein for pituitary pro-opiomelanocortin (POMC) gene transcription.
Budry L, Couture C, Balsalobre A, Drouin J., Free PMC Article | 01/28/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesFollow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
Ehret GB, O'Connor AA, Weder A, Cooper RS, Chakravarti A. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk KD, Huang QY, Mori S, Sham PC, Kung AW. | 01/11/2009 |
| the M86R TPIT mutation is defining an important surface of the T domain for multiple protein interactions and for transcription | The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M, Drouin J. | 01/21/2010 |
| 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 | Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J., Free PMC Article | 01/21/2010 |
| TPIT gene mutations is the principal molecular cause of neonatal congenital isolated ACTH deficiency | Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J. | 01/21/2010 |
| We report largest series of congenital ACTH deficiency and demonstrate molecular mechanism involves Tpit in majority of cases. | A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J. | 01/21/2010 |
| 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 | Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M. | 01/21/2010 |
| 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. | The T-box factor Tpit recruits SRC/p160 co-activators and mediates hormone action.
Maira M, Couture C, Le Martelot G, Pulichino AM, Bilodeau S, Drouin J. | 01/21/2010 |
| Review. Association of 2 mutations with an ACTH deficiency is consistent with the role of tbx19 in differentiation of POMC cells. | T-box and isolated ACTH deficiency.
Asteria C. | 01/21/2010 |
| 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 mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ. | 01/21/2010 |
| Overtransmission of a haplotype GAC at the TBX19 locus was associated with increased angry/hostility scores among suicide attempters. | Genetic variation in the hypothalamic-pituitary-adrenocortical axis regulatory factor, T-box 19, and the angry/hostility personality trait.
Wasserman D, Geijer T, Sokolowski M, Rozanov V, Wasserman J. | 01/21/2010 |