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MESP1 Mutations in Patients with Congenital Heart Defects.

Hum Mutat.. 2016-03; 
P Werner, B Latney, MA Deardorff, E Goldmuntz
Products/Services Used Details Operation
Mutagenesis Services ... SNP/). iii) Site directed mutagenesis A clone containing the mRNA sequence of MESP1 (NM_018670.3) was purchased from GenScript (Piscataway, NJ). The complete ORF sequence of MESP1 was cloned into an expression ... Get A Quote

摘要

Identifying the genetic etiology of congenital heart disease (CHD) has been challenging despite being one of the most common congenital malformations in humans. We previously identified a microdeletion in a patient with a ventricular septal defect containing over 40 genes including MESP1 (mesoderm posterior basic helix-loop-helix transcription factor 1). Because of the importance of MESP1 as an early regulator of cardiac development in both in vivo and in vitro studies, we tested for MESP1 mutations in 647 patients with congenital conotruncal and related heart defects. We identified six rare, nonsynonymous variants not seen in ethnically matched controls and one likely race-specific nonsynonymous variant. Funct... More

关键词

Conotruncal heart defects; MESP1; congenital heart disease; mesoderm posterior bHLH transcription factor 1