Results 51 to 60 of about 5,757 (204)

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

, 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   +1 more source

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.

PLoS ONE, 2014
Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge syndrome (VCFS/DGS/22q11.2 deletion syndrome).
Raquel Castellanos, Qing Xie, Deyou Zheng, Ales Cvekl, Bernice E Morrow   +4 more
doaj   +1 more source

TBX1 Transcription Factor: mechanisms of gene regulation [PDF]

, 2018
The Tbx1 gene encodes a transcription factor, TBX1, critical for heart development in several species, including humans. The haploinsufficiency of this gene is associated with DiGeorge Syndrome (DGS) named also 22q11.2 Deletion Syndrome (22q11.2DS) which
Cirino, Andrea
core   +1 more source

Rebalancing gene haploinsufficiency in vivo by targeting chromatin

Nature Communications, 2016
Deficit in transcription factor Tbx1 causes heart defects in humans and mice. Here the authors show that Tbx1 regulates gene expression by recruiting histone methyltransferases that affect chromatin marks, and that a drug inhibiting histone demethylation
Filomena Gabriella Fulcoli, Monica Franzese, Xiangyang Liu, Zhen Zhang, Claudia Angelini, Antonio Baldini   +5 more
doaj   +1 more source

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis [PDF]

Human Molecular Genetics, 2004
Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency ...
Robert G, Kelly, Loydie A, Jerome-Majewska, Virginia E, Papaioannou   +2 more
openaire   +2 more sources

Tbx1 represses Mef2c gene expression and is correlated with histone 3 deacetylation of the anterior heart field enhancer

Disease Models & Mechanisms, 2018
The TBX1 gene is haploinsufficient in 22q11.2 deletion syndrome (22q11.2DS), and genetic evidence from human patients and mouse models points to a major role of this gene in the pathogenesis of this syndrome.
Luna Simona Pane, Filomena Gabriella Fulcoli, Andrea Cirino, Alessandra Altomonte, Rosa Ferrentino, Marchesa Bilio, Antonio Baldini   +6 more
doaj   +1 more source

NK4 antagonizes Tbx1/10 to promote cardiac versus pharyngeal muscle fate in the ascidian second heart field. [PDF]

PLoS Biology, 2013
The heart and head muscles share common developmental origins and genetic underpinnings in vertebrates, including humans. Parts of the heart and cranio-facial musculature derive from common mesodermal progenitors that express NKX2-5, ISL1, and TBX1. This
Wei Wang, Florian Razy-Krajka, Eric Siu, Alexandra Ketcham, Lionel Christiaen   +4 more
doaj   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Tbx1 regulates oral epithelial adhesion and palatal development [PDF]

Human Molecular Genetics, 2012
Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate.
Noriko, Funato, Masataka, Nakamura, James A, Richardson, Deepak, Srivastava, Hiromi, Yanagisawa   +4 more
openaire   +2 more sources

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

npj Genomic Medicine, 2023
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification ...
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow   +52 more
doaj   +1 more source