Results 11 to 20 of about 5,428 (208)

Tbx1 is a negative modulator of Mef2c [PDF]

Human Molecular Genetics, 2011
The developmental role of the T-box transcription factor Tbx1 is exquisitely dosage-sensitive. In this study, we performed a microarray-based transcriptome analysis of E9.5 embryo tissues across a previously generated Tbx1 mouse allelic series.
Zhen Zhang, Rosa Ferrentino, L. S. Pane, Luisa Cutillo, Z. Zhang, T. Huynh, Pane L. S, CUTILLO, Luisa, BALDINI, ANTONIO, Tuong Huynh4, L. Cutillo, Zhang Z, Baldini A., Antonio Baldini, Luna Simona Pane, R. Ferrentino, Ferrentino R, Tuong Huynh   +17 more
core   +6 more sources

TBX1 is required for inner ear morphogenesis. [PDF]

Human Molecular Genetics, 2003
TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients.
E. Lindsay, MORISHIMA M, VITELLI F, LINDSAY E.A., ILLINGWORTH, ELISABETH ANNE, T. Pramparo, A. Viola, BALDINI, ANTONIO, F. Vitelli, BALDINI A, VIOLA A, M. Morishima, PRAMPARO T   +12 more
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Tbx1: Transcriptional and Developmental Functions

Current topics in developmental biology, 2017
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately
F.G. Fulcoli, Baldini, A., A. Baldini, ILLINGWORTH, ELISABETH ANNE, E. Illingworth, Fulcoli, F. G., Illingworth, E.   +6 more
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Transposisi Arteri Besar dan mutasi gen TBX1

Sari Pediatri, 2016
Latar belakang. Transposisi arteri besar (TAB) adalah suatu penyakit jantung bawaan (PJB) yang termasuk dalam malformasi konotrunkal. Kelainan terasebut ditemukan sekitar 5% dari seluruh PJB.
Sri Endah Rahayuningsih
doaj   +2 more sources

Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.

PLoS ONE, 2009
Tbx1 is a T-box transcription factor implicated in DiGeorge syndrome. The molecular function of Tbx1 is unclear although it can transactivate reporters with T-box binding elements.
F Gabriella Fulcoli, Tuong Huynh, Peter J Scambler, Antonio Baldini   +3 more
doaj   +2 more sources

Tbx1 Regulates Proliferation and Differentiation of Multipotent Heart Progenitors [PDF]

Circulation Research, 2009
Rationale: TBX1 encodes a T-box transcription factor implicated in DiGeorge syndrome, which affects the development of many organs, including the heart.
BALDINI, ANTONIO, Filomena Gabriella Fulcoli, Susan Tang, F. G. Fulcoli, S. Tang, L. Chen, Li Chen, Antonio Baldini   +7 more
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"Mechanisms of transcriptional regulation by Tbx1" [PDF]

, 2010
Deletion 22q11.2 syndrome (22q11DS) is the most common microdeletion syndrome in man, with an incidence of approximately 1:4000 live births (1); the major malformations include congenital heart defects such as truncus arteriosus (TA) and interrupted ...
Pane, Luna Simona
core   +2 more sources

Tbx1 regulates Vegfr3 and is required for lymphatic vessel development [PDF]

Journal of Cell Biology, 2010
Lymphatic dysfunction causes several human diseases, and tumor lymphangiogenesis is implicated in cancer spreading. TBX1 is the major gene for DiGeorge syndrome, which is associated with multiple congenital anomalies.
MUPA A, ILLINGWORTH, ELISABETH ANNE, C. L. Jin, McKeehan, Wallace, HUYNH T, Chen, Li, Elizabeth Illingworth, CHEN L, BALDINI A, M. Woods, Huynh, Tuong, L. Chen, S. Cioffi, Tuong Huynh, Sara Cioffi, Jin, Chengliu, A. Mupo, L. Thompson Snipes, Chengliu Jin, Thompson-Snipes, LuAnn, JIN C, T. Huynh, LuAnn Thompson-Snipes, CIOFFI S, MCKEEHAN W, Matthew Woods, BALDINI, ANTONIO, THOMPSON SNIPES L, Wallace McKeehan, WOODS M, Li Chen, Antonio Baldini, Mupo, Annalisa, E. Illingworth, Annalisa Mupo, Cioffi, Sara, Woods, Matthew, Illingworth, Elizabeth, W. McKeehan   +38 more
core   +8 more sources

A novel TBX1 variant causing hypoparathyroidism and deafness [PDF]

Journal of the Endocrine Society, 2019
Background. The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome.
El-Wetidy, Mohammed, Kashour, Tarek, Alghamdi, Malak, Al Khalifah, Reem, Alkhamis, Waleed H., Arold, Stefan T., Halwani, Rabih, Ekhzaimy, Aishah, Al Homyani, Doua K.   +8 more
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Early thyroid development requires a Tbx1-Fgf8 pathway

Developmental Biology, 2009
The thyroid develops within the pharyngeal apparatus from endodermally-derived cells. The many derivatives of the pharyngeal apparatus develop at similar times and sometimes from common cell types, explaining why many syndromic disorders express multiple
Lania, Gabriella, Vitelli, Francesca, Zhang, Zhen, Z. Zhang, T. Huynh, A. M. Moon, F. Vitelli, BALDINI, ANTONIO, G. Lania, Huynh, Tuong, Caprio, Cinzia, C. Caprio, Moon, Anne M.   +12 more
core   +5 more sources