Results 81 to 90 of about 4,765 (175)

Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12

Life Science Alliance
The study shows that mice that are a model of 22q11.2 deletion syndrome have abnormal brain metabolism, and it identifies potential biomarkers of metabolic brain disease in 22q11.2DS patients.
Marianna Caterino, Debora Paris, Giulia Torromino, Michele Costanzo, Gemma Flore, Annabella Tramice, Elisabetta Golini, Silvia Mandillo, Diletta Cavezza, Claudia Angelini, Margherita Ruoppolo, Andrea Motta, Elvira De Leonibus, Antonio Baldini, Elizabeth Illingworth, Gabriella Lania   +15 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  

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

Developmental Biology, 2010
Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans.
Aggarwal, Vimla S., Carpenter, Courtney, Freyer, Laina, Liao, Jun, Petti, Marilena, Morrow, Bernice E.   +5 more
openaire   +2 more sources

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

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

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  

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