Results 61 to 70 of about 215 (86)

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

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome

Disease Models & Mechanisms, 2022
Gabriella Lania, Monica Franzese, Noritaka Adachi, Marchesa Bilio, Gemma Flore, Annalaura Russo, Erika D'Agostino, Claudia Angelini, Robert G. Kelly, Antonio Baldini   +9 more
doaj   +1 more source

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

The Turkish Journal of Pediatrics, 2007
Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi, Ajlan Tükün   +5 more
doaj  

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  

Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

La Pediatria Medica e Chirurgica, 2016
In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency,
Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio   +4 more
doaj   +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

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

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   +1 more source

Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm

Cellular and Molecular Life Sciences
The paxillin (PXN) protein is a key component of focal adhesions in which it primarily functions as a molecular scaffold to spatiotemporally integrate diverse signalling networks to transduce intracellular responses. In this study, using loss-of-function
O. Iacolare, M. Bilio, A. Altomonte, O. Lanzetta, C. Turner, A. Baldini, D. Alfano   +6 more
doaj   +1 more source

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

PLoS ONE
The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations.
Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Maran   +7 more
doaj   +1 more source

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TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts

Experimental Biology and Medicine, 2023
Yu Zhang
exaly