Results 11 to 20 of about 4,652 (175)

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, Andrew Tinker, Peter Scambler   +2 more
exaly   +8 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 Functions as a Tumor Activator in Prostate Cancer by Promoting Ribosome RNA Gene Transcription

Frontiers in Oncology, 2021
TBX1 belongs to an evolutionarily conserved family of transcription factors involved in organ development. TBX1 has been reported to have a hypermethylated cytosine guanine dinucleotide island around its second exon, which was related to prostate cancer (
Jie Cui, Jie Cui, Yamin Zhang, Yamin Zhang, Xiaoyue Ren, Xiaoyue Ren, Lei Jin, Hongyi Zhang, Hongyi Zhang   +8 more
exaly   +3 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

Tbx1 plays a critical role in focal adhesion dynamics through paxillin regulation [PDF]

Life Science Alliance
Tbx1 is essential for cell adhesion by regulating focal adhesion dynamics, primarily through influencing the disassembly process. Tbx1 modulates cell spreading via the paxillin signalling pathway and integrin trafficking control.
Olimpia Iacolare, Rosa Ferrentino, Alessandra Altomonte, Christopher E Turner, Antonio Baldini, Daniela Alfano   +5 more
doaj   +2 more sources

Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12 [PDF]

Life Science Alliance
The study shows that mice that are a model of 22q11.2 deletion syndrome have abnormal brain metabolism, and it identifies potential biomarkers of metabolic brain disease in 22q11.2DS patients.
Marianna Caterino, Debora Paris, Giulia Torromino, Michele Costanzo, Gemma Flore, Annabella Tramice, Elisabetta Golini, Silvia Mandillo, Diletta Cavezza, Claudia Angelini, Margherita Ruoppolo, Andrea Motta, Elvira De Leonibus, Antonio Baldini, Elizabeth Illingworth, Gabriella Lania   +15 more
doaj   +2 more sources

Tbx1 regulates brain vascularization [PDF]

Human Molecular Genetics, 2013
The transcription factor TBX1 is the major gene involved in 22q11.2 deletion syndrome (22q11.2DS). Using mouse models of these diseases, we have previously shown that TBX1 activates VEGFR3 in endothelial cells (EC), and that this interaction is critical for the development of the lymphatic vasculature.
Cioffi, Sara, MARTUCCIELLO, STEFANIA, Fulcoli, Filomena Gabriella, Bilio, Marchesa, Ferrentino, Rosa, Nusco, Edoardo, ILLINGWORTH, ELISABETH ANNE   +6 more
openaire   +5 more sources

TBX1 targets the miR-200–ZEB2 axis to induce epithelial differentiation and inhibit stem cell properties

Scientific Reports, 2022
TBX1, which encodes a T-box transcription factor, is considered a candidate gene for DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome.
Noriko Funato, Hiromi Yanagisawa
doaj   +1 more source

Tbx1 is a negative modulator of Mef2c [PDF]

Human Molecular Genetics, 2012
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. This analysis identified several genes whose expression was affected by Tbx1 dosage.
Pane L. S, Zhang Z, Ferrentino R, Tuong Huynh4, CUTILLO, Luisa, Baldini A.   +5 more
openaire   +5 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   +1 more source