학술논문
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Document Type
Article
Author
Mishra-Gorur, Ketu; Barak, Tanyeri; Kaulen, Leon D.; Henegariu, Octavian; Sheng Chih Jin; Aguilera, Stephanie Marie; Yalbir, Ezgi; Goles, Gizem; Nishimura, Sayoko; Miyagishima, Danielle; Djenoune, Lydia; Altinok, Selin; Rai, Devendra K.; Viviano, Stephen; Prendergast, Andrew; Zerillo, Cynthia; Ozcan, Kent; Baran, Burcin; Sencar, Leman; Goc, Nukte
Source
Subject
*CONGENITAL heart disease
*CARDIAC patients
*GENETIC mutation
*MEDICAL genetics
*ATRIAL septal defects
*HUMAN genetics
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Language
ISSN
0027-8424
Abstract
This document is a reply to a letter regarding the pathogenicity of inherited TRAF7 mutations in congenital heart disease. The authors of the reply defend their previous manuscript, which reported the association of TRAF7 variants with congenital heart disease based on experimental data and in silico tools. They argue that their findings are supported by previous research on TRAF7 mutations in syndromic cases and cancer. They also address specific criticisms and limitations of their study, emphasizing the need for further experimental research to understand the mechanisms and phenotypic spectrum of TRAF7 mutations. [Extracted from the article]