RAF1 mutations in childhood-onset dilated cardiomyopathy

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. Dilated cardiomyopathy (DCM) is a highly het...

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Veröffentlicht in:	Nature genetics 2014-06, Vol.46 (6), p.635-639
Hauptverfasser:	Dhandapany, Perundurai S, Razzaque, Md Abdur, Muthusami, Uthiralingam, Kunnoth, Sreejith, Edwards, Jonathan J, Mulero-Navarro, Sonia, Riess, Ilan, Pardo, Sherly, Sheng, Jipo, Rani, Deepa Selvi, Rani, Bindu, Govindaraj, Periyasamy, Flex, Elisabetta, Yokota, Tomohiro, Furutani, Michiko, Nishizawa, Tsutomu, Nakanishi, Toshio, Robbins, Jeffrey, Limongelli, Giuseppe, Hajjar, Roger J, Lebeche, Djamel, Bahl, Ajay, Khullar, Madhu, Rathinavel, Andiappan, Sadler, Kirsten C, Tartaglia, Marco, Matsuoka, Rumiko, Thangaraj, Kumarasamy, Gelb, Bruce D
Format:	Artikel
Sprache:	eng
Schlagworte:	13/1 13/109 38/44 38/70 38/77 45 45/22 45/23 692/308/2056 692/699/75/74 96 96/1 Adult Age of Onset Aged Agriculture Amino Acid Sequence Animal Genetics and Genomics Animals Biomedicine Cancer Research Cardiomyopathy Cardiomyopathy, Dilated - ethnology Cardiomyopathy, Dilated - genetics Cardiovascular disease Care and treatment Case-Control Studies Children Cohort Studies Confidence intervals Danio rerio Diseases Extracellular Signal-Regulated MAP Kinases - metabolism Female Fibroblasts - metabolism Gene Function Gene mutations Genealogy Genetic aspects Heart diseases HEK293 Cells Human Genetics Humans Identification and classification India Japan Kinases letter Male Mice Middle Aged Molecular Sequence Data Mutation Phenotype Prevalence Proteins Proto-Oncogene Proteins c-raf - genetics Sequence Homology, Amino Acid Signal transduction Sirolimus - chemistry Studies Zebrafish
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