Results 91 to 100 of about 4,653 (175)
Familial hypertrophic cardiomyopathy associated with TBX1 variation
European Journal of Medical GeneticsHypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease characterized by significant genetic heterogeneity. While the T-box transcription factor 1 (TBX1) gene is known to cause congenital cardiovascular defects, it has not been previously associated with HCM.Whole-exome sequencing (WES) was performed to identify causative gene ...
Jie Zhang +9 more
openaire +2 more sources
Gene expression profiling in the developing secondary palate in the absence of Tbx1 function
BMC Genomics, 2018 Background Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate.
Maria Zoupa +5 more
doaj +1 more source
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. +5 more
openaire +2 more sources
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
Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice [PDF]
, 2016 Congenital heart disease is still the leading cause of death within the first year of life. Our lab forces on understanding the morphology of congenital heart disease. Outflow tract anomalies, including abnormal alignment or septation, account for 30 % of all congenital heart disease.
Takatoshi Tsuchihashi +6 more
openaire +1 more source
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 +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 +9 more
openaire +2 more sources
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 +5 more
doaj
Regulatory effect of transcription factor TBX1 on osteogenic differentiation of human dental pulp stem cells [PDF]
Kouqiang yixueObjective 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