Condition: Holt-Oram syndrome


rs104894378 in TBX5 gene and Holt-Oram syndrome PMID 19648116 2009 Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

PMID 10842287 2000 Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

PMID 11431700 2001 A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.

PMID 20450920 2010 Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

PMID 15735645 2005 Mutation in myosin heavy chain 6 causes atrial septal defect.

PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

PMID 12818525 2004 Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

PMID 8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

PMID 21897873 2011 Synergistic activation of cardiac genes by myocardin and Tbx5.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1553303161 in TGFB2 gene and Holt-Oram syndrome PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 26854089 2016 Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

PMID 23102774 2013 Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

rs1553292145 in TGFB2-AS1;TGFB2 gene and Holt-Oram syndrome PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.