RAF1 mutations in childhood-onset dilated cardiomyopathy

被引：0

作者：

Perundurai S Dhandapany

Md Abdur Razzaque

Uthiralingam Muthusami

Sreejith Kunnoth

Jonathan J Edwards

Sonia Mulero-Navarro

Ilan Riess

Sherly Pardo

Jipo Sheng

Deepa Selvi Rani

Bindu Rani

Periyasamy Govindaraj

Elisabetta Flex

Tomohiro Yokota

Michiko Furutani

Tsutomu Nishizawa

Toshio Nakanishi

Jeffrey Robbins

Giuseppe Limongelli

Roger J Hajjar

Djamel Lebeche

Ajay Bahl

Madhu Khullar

Andiappan Rathinavel

Kirsten C Sadler

Marco Tartaglia

Rumiko Matsuoka

Kumarasamy Thangaraj

Bruce D Gelb

机构：

[1] Icahn School of Medicine at Mount Sinai,Department of Pediatrics

[2] Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences

[3] The Mindich Child Health and Development Institute,Department of Surgery

[4] Hess Center for Science and Medicine at Mount Sinai,Department of Advanced Zoology and Biotechnology

[5] The Heart Institute,Department of Biotechnology

[6] Cincinnati Children's Hospital Medical Center,Department of Biomedical Science

[7] University of Wisconsin School of Medicine and Public Health,Dipartimento di Ematologia

[8] Loyola College,Department of Pediatric Cardiology

[9] Manonmaniam Sundaranar University,Department of Cardio

[10] Recinto de Ciencias Médicas,Thoracic Surgery

[11] Universidad de Puerto Rico,Division of Liver Diseases

[12] Cardiovascular Research Center,Department of Medicine

[13] Icahn School of Medicine at Mount Sinai,Department of Developmental and Regenerative Biology

[14] CSIR–Center for Cellular and Molecular Biology,undefined

[15] Post-Graduate Institute of Medical Education and Research (PGIMER),undefined

[16] School of Basic Medical Sciences,undefined

[17] Bharathidasan University,undefined

[18] Oncologia e Medicina Molecolare,undefined

[19] Istituto Superiore di Sanità,undefined

[20] International Research and Educational Institute for Integrated Medical Sciences (IREIIMS),undefined

[21] Tokyo Women′s Medical University,undefined

[22] Tokyo Women′s Medical University,undefined

[23] Monaldi Hospital,undefined

[24] Second University of Naples (SUN),undefined

[25] Thanjavur Medical College,undefined

[26] Icahn School of Medicine at Mount Sinai,undefined

[27] Icahn School of Medicine at Mount Sinai,undefined

[28] Icahn School of Medicine at Mount Sinai,undefined

来源：

Nature Genetics | 2014年 / 46卷

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摘要：

Bruce Gelb and colleagues identify rare RAF1 mutations in individuals with childhood-onset dilated cardiomyopathy in three cohorts from South India, North India and Japan. Variant RAF1 proteins show altered kinase activity that causes AKT hyperactivation.

引用

页码：635 / 639

页数：4

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