Results 21 to 30 of about 5,428 (208)

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
Abigail Jackson, Basson, M Albert; id_orcid, Jackson, Abigail, Bernice Morrow, Sahrunizam Kasah, M. Albert Basson, Kasah, Sahrunizam, Mansour, Suzanne L, Morrow, Bernice, Suzanne L. Mansour   +9 more
core   +4 more sources

Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm [PDF]

Developmental Dynamics, 2007
The T-box transcription factor Tbx1 has been implicated in DiGeorge syndrome, the most frequent syndrome due to a chromosomal deletion. Gene inactivation of Tbx1 in mice results in craniofacial and branchial arch defects, including myogenic defects in ...
Zhen Zhang, P. Francis West, Rebecca Walker, Walker, R, Z. Zhang, Dastjerdi, A, L. Robson, Akbar Dastjerdi, P. Ataliotis, A. Dastjerdi, Rodriguez-Niedenfuhr, M, Robson, L, M. Rodriguez Niedenfuhr, P. Scambler, Paris Ataliotis, Scambler, P, Lesley Robson, Marc Rodriguez‐Niedenführ, Ataliotis, P, Zhang, Z, BALDINI, ANTONIO, R. Walker, Hadley, J, Julia Hadley, Baldini, A, Francis-West, P, Philippa Francis‐West, J. Hadley, Antonio Baldini, Peter Scambler   +29 more
core   +5 more sources

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

Developmental Biology, 2006
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear.
Zhen Zhang, Baldini, Antonio, Vitelli, Francesca, Huynh, Tuong, Zhang, Zhen, Sobotka, Angela, Mupo, Annalisa, Angela Sobotka, Antonio Baldini, Annalisa Mupo, Francesca Vitelli, Tuong Huynh   +11 more
core   +4 more sources

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]

Genes, 2016
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia.
Yang-An Chuang, Hsin-Yao Tsai, Min-Chih Cheng, Lieh-Yung Ping, Shih-Hsin Hsu   +4 more
core   +3 more sources

TBX1 IS REQUIRED IN BRAIN VASCULARIZATION

, 2012
The developing microvasculature has a key role in the development, maintenance and repair of the brain and several studies have linked perinatal microvascular damage to an increased risk for schizophrenia and other psychotic disorders.
Cioffi, Sara
core   +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

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

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

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   +1 more source