A novel de novoTBX5mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function

TBX5mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians

(2016) Ji-Fang Ma et al.   CARDIOVASCULAR RESEARCH

TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy

(2015) Xian-Ling Zhang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Multidomain Peptidyl Prolyl cis/trans Isomerases

(2015) Cordelia Schiene-Fischer   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations

(2015) Qianqian Guo et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

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

(2015) Mohammad M. Al-Qattan et al.   GENE

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

(2014) Anwar Baban et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel TBX5 Duplication in a Japanese Family with Holt–Oram Syndrome

(2014) Masato Kimura et al.   PEDIATRIC CARDIOLOGY

Tumor suppressor p53 cooperates with SIRT6 to regulate gluconeogenesis by promoting FoxO1 nuclear exclusion

(2014) P. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cis–trans isomerization of omega dihedrals in proteins

(2013) Pierrick Craveur et al.   AMINO ACIDS

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

(2012) Chirag Patel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

(2010) C. J. J. Boogerd et al.   CARDIOVASCULAR RESEARCH

Structural Basis of TBX5–DNA Recognition: The T-Box Domain in Its DNA-Bound and -Unbound Form

(2010) Christian U. Stirnimann et al.   JOURNAL OF MOLECULAR BIOLOGY

A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation

(2008) Alex V. Postma et al.   CIRCULATION RESEARCH