Associated Papers
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.
Vanlerberghe C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.
Mahfuz AMUB et al.
Biochemistry and Biophysics Reports, 2021
TBX5: A Key Regulator of Heart Development.
Steimle JD et al.
Current Topics in Developmental Biology, 2017
The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
Waldron L et al.
Developmental Cell, 2016
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Al-Qattan MM et al.
Saudi Medical Journal, 2015
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM et al.
Gene, 2015
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly.
Faria MH et al.
International Journal of Cardiology, 2008
TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
Mori AD et al.
Current Opinion in Cardiology, 2004
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM et al.
American Journal of Human Genetics, 2003
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