Results 111 to 120 of about 5,848 (206)

Tbx1^−/−;Wnt5a^−/− embryos have severe cardiac abnormalities.

, 2012
(A–D′) Whole mount histology study showed reduced overall size of Tbx1−/−; Wnt5a−/− embryos at E9.5 (n = 10), compared with control (WT), Tbx1−/− or Wnt5a−/− littermates.
Li Chen (5749), Rosa Ferrentino (177859), Stefania Martucciello (177865), Elizabeth A. Illingworth (177870), Antonio Baldini (177873), Filomena Gabriella Fulcoli (177854)   +5 more
core   +1 more source

The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective

The Scientific World Journal, 2006
The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22.
Antonio Baldini
doaj   +1 more source

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

BMC Medical Genetics, 2011
Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1
Xu Yue-Juan, Wang Jian, Xu Rang, Zhao Peng-Jun, Wang Xi-Ke, Sun Heng-Juan, Bao Li-Ming, Shen Jie, Fu Qi-Hua, Li Fen, Sun Kun   +10 more
doaj   +1 more source

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

Molecular Medicine, 2007
A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease.
Birgit H, Funke, Todd, Lencz, Christine T, Finn, Pamela, DeRosse, G David, Poznik, Alex M, Plocik, John, Kane, John, Rogus, Anil K, Malhotra, Raju, Kucherlapati   +9 more
openaire   +2 more sources

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

, 2003
The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in ...
MINGARELLI R, SARKOZY A, DIGILIO MC, TANDOI C, MARINO TAUSSIG DE BODONIA, Bruno, PIZZUTI, Antonio, DALLA PICCOLA, Bruno, CONTI E, GRIFONE N   +8 more
core   +1 more source

Tbx1 stabilizes differentiation of the cardiopharyngeal mesoderm and drives morphogenesis in the pharyngeal apparatus

: TBX1, a T-box transcription factor, is essential for pharyngeal apparatus development and marks cardiopharyngeal mesoderm (CPM) in various species.
Baldini, Antonio, Lanzetta, Olga, Jechow, Katharina, Wei Ten, Foo, Ferrentino, Rosa, Liebig, Johannes, Bilio, Marchesa, Angelini, Claudia, Conrad, Christian, Lukassen, Soeren, Aurigemma, Ilaria, Illingworth, Elizabeth   +11 more
core   +1 more source

Gain of Function of Tbx1 Affects Pharyngeal and Heart Development in the Mouse

, 2009
Mammalian development is highly sensitive to Tbx1 gene dosage reduction. Gene function insights can also be learned from increased or ectopic expression.
F. Vitelli, BALDINI, ANTONIO, T. Huynh, Vitelli F, Baldini A, Huynh T   +5 more
core   +1 more source

Regulatory effect of transcription factor TBX1 on osteogenic differentiation of human dental pulp stem cells [PDF]

Kouqiang yixue
Objective To investigate the regulatory effect of T-box transcription factor 1 (TBX1) on the osteogenic differentiation capacity of human dental pulp stem cells (hDPSCs) and its underlying mechanism.
WANG Mingxi, GAO Shan, LI Guoqing, TANG Chunbo
doaj  

The Bmper locus has an intronic TR site that is bound and activated by TBX1.

, 2014
A: Snapshot of the UCSC browser showing the TR site in intron 13 in the Bmper locus and it is evolutionarily conserved in some rodent species. B: GST-TBX1 was able to bind to the TR motif in the Bmper locus.
Raquel Castellanos (559734), Ales Cvekl (104250), Bernice E. Morrow (509741), Qing Xie (104232), Deyou Zheng (7943)   +4 more
core   +1 more source

Regulation of Sema3c and the Interaction between Cardiac Neural Crest and Second Heart Field during Outflow Tract Development

Scientific Reports, 2017
The cardiac neural crest cells (cNCCs) and the second heart field (SHF) play key roles in development of the cardiac outflow tract (OFT) for establishment of completely separated pulmonary and systemic circulations in vertebrates. A neurovascular guiding
Kazuki Kodo, Shinsuke Shibata, Sachiko Miyagawa-Tomita, Sang-Ging Ong, Hiroshi Takahashi, Tsutomu Kume, Hideyuki Okano, Rumiko Matsuoka, Hiroyuki Yamagishi   +8 more
doaj   +1 more source