Results 101 to 110 of about 5,428 (208)
, 2017 Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in ...
Filomena Cetani +23 more
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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
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
Investigating a Tbx1 and Pax9 genetic interaction during cardiovascular development [PDF]
, 2015 PHD ThesisCongenital cardiovascular malformations (CCVM) are the most common type of birth defect in humans and can be life threatening for the newborn. 22q11 deletion syndrome (22q11DS) is one of the most common CCVM in humans, with patients presenting ...
Briones Leon, Jose Alberto
core
DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart morphology and function [PDF]
, 2013 DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects.
Choudhry, Priya, Trede, Nikolaus S.
core
Tbx1 interacts with Baf60a in mouse embryo tissues.
, 2012 (A) Co-IP experiment showing interaction of the Tbx1 and Baf60a endogenous proteins in embryo tissues. The first lane on the left contains nuclear extracts from E9.5 WT embryos.
Li Chen (5749) +5 more
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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
Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis
, 2003 Pharyngeal arch artery (PAA) remodeling defects account for several cases of congenital heart disease. Mutations in the Endothelin-1 genetic pathway or Tbx1, a candidate gene for DiGeorge syndrome, cause similar aortic arch defects.
BALDINI, ANTONIO +3 more
core +1 more source