Results 31 to 40 of about 5,584 (206)

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome [PDF]

Nature Communications
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues.
Tae-Yeon Eom, J. Eric Schmitt, Yiran Li, Christopher M. Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S. Hansen, Khaled Khairy, Stephane Pelletier, Shondra M. Pruett-Miller, David R. Roalf, Raquel E. Gur, Beverly S. Emanuel, Donna M. McDonald-McGinn, Jesse N. Smith, Cai Li, Jason M. Christie, Paul A. Northcott, Stanislav S. Zakharenko   +21 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 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
doaj   +1 more source

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

Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Orphanet Journal of Rare Diseases, 2021
Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS).
Xuechao Jiang, Tingting Li, Sijie Liu, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu, Yuejuan Xu   +8 more
doaj   +1 more source

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. [PDF]

, 2013
BACKGROUND: Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS).
Morrow BE, Nowotschin, Sonja, Pirity MK, Baldini, Antonio, Freyer L, Freyer, Laina, Nowotschin S, Pirity, Melinda K., Morrow, Bernice E.   +8 more
core   +2 more sources

VEGFR3 modulates brain microvessel branching in a mouse model of 22q11.2 deletion syndrome

Life Science Alliance, 2022
This study provides genetic evidence that VEGFR3 regulates vessel branching and filopodia formation in the embryonic mouse brain and is a likely mediator of brain vessel anomalies in Tbx1 mutant mice.
Sara Cioffi, Gemma Flore, Stefania Martucciello, Marchesa Bilio, Maria Giuseppina Turturo, Elizabeth Illingworth   +5 more
doaj   +1 more source

Pharmacological Rescue of the Brain Cortex Phenotype of Tbx1 Mouse Mutants: Significance for 22q11.2 Deletion Syndrome

Frontiers in Molecular Neuroscience, 2021
ObjectivesTbx1 mutant mice are a widely used model of 22q11.2 deletion syndrome (22q11.2DS) because they manifest a broad spectrum of physical and behavioral abnormalities that is similar to that found in 22q11.2DS patients.
Ilaria Favicchia, Gemma Flore, Sara Cioffi, Gabriella Lania, Antonio Baldini, Antonio Baldini, Elizabeth Illingworth   +6 more
doaj   +1 more source

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome. [PDF]

PLoS Genetics, 2017
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT ...
Silvia E Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E Morrow   +8 more
doaj   +1 more source

Endoderm‐specific deletion of Tbx1 reveals an FGF‐independent role for Tbx1 in pharyngeal apparatus morphogenesis [PDF]

Developmental Dynamics, 2014
Background: The T‐box transcription factor Tbx1, is essential for the normal development of multiple organ systems in the embryo. One of the most striking phenotypes in Tbx1−/− embryos is the failure of the caudal pharyngeal pouches to evaginate from the foregut endoderm.
Jackson, Abigail, Kasah, Sahrunizam, Mansour, Suzanne L, Morrow, Bernice, Basson, M Albert   +4 more
openaire   +3 more sources