Results 11 to 20 of about 5,584 (206)

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts [PDF]

Journal of Cardiovascular Development and Disease, 2018
Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features of 22q11.2 deletion syndrome. Tbx1 is expressed dynamically in the pharyngeal apparatus during mouse development and Tbx1 homozygous mutants display numerous ...
Amélie Calmont, Naomi Anderson, Jenifer P. Suntharalingham, Richard Ang, Andrew Tinker, Peter J. Scambler   +5 more
doaj   +9 more sources

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
core   +6 more sources

Adipose TBX1 regulates β-adrenergic sensitivity in subcutaneous adipose tissue and thermogenic capacity in vivo

Molecular Metabolism, 2020
Objective: T-box 1 (TBX1) has been identified as a genetic marker of beige adipose tissue. TBX1 is a mesodermal development transcription factor essential for tissue patterning and cell fate determination.
Matthew J Potthoff, Sheps King-Mcalpin, Kathleen Markan   +2 more
exaly   +3 more sources

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
core   +5 more sources

"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   +4 more sources

Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments [PDF]

Molecular Brain
Constitutive heterozygosity of Tbx1, a T-box transcription factor gene located within the 22q11.2 deletion region, results in behavioral deficits and altered composition of myelinated axons in the fimbria, together with reduced levels of an ...
Anne Marie Wells, Takaki Tanifuji, Takeshi Takano, Arumu Endo, Gina Kang, Marisa Esparza, Qian Shi, Manzoor A. Bhat, Noboru Hiroi   +8 more
doaj   +2 more sources

DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. [PDF]

PLoS ONE, 2013
DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects.
Priya Choudhry, Nikolaus S Trede
doaj   +2 more sources

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