RAF1 mutations in childhood-onset dilated cardiomyopathy.-论文-万方医学网

第一作者： Perundurai S,Dhandapany

第一单位： Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA.;The Mindich Child Health and Development Institute, Hess Center for Science and Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA.

作者： Perundurai S,Dhandapany ^[1] ; Md Abdur,Razzaque ^[2] ; Uthiralingam,Muthusami ^[3] ; Sreejith,Kunnoth ^[3] ; Jonathan J,Edwards ^[4] ; Sonia,Mulero-Navarro ^[4] ; Ilan,Riess ^[4] ; Sherly,Pardo ^[5] ; Jipo,Sheng ^[6] ; Deepa Selvi,Rani ^[7] ; Bindhu,Rani ^[8] ; Periyasamy,Govindaraj ^[9] ; Elisabetta,Flex ^[10] ; Tomohiro,Yokota ^[11] ; Michiko,Furutani ^[12] ; Tsutomu,Nishizawa ^[11] ; Toshio,Nakanishi ^[12] ; Jeffrey,Robbins ^[2] ; Giuseppe,Limongelli ^[13] ; Roger J,Hajjar ^[6] ; Djamel,Lebeche ^[6] ; Ajay,Bahl ^[8] ; Madhu,Khullar ^[8] ; Andiappan,Rathinavel ^[14] ; Kirsten C,Sadler ^[15] ; Marco,Tartaglia ^[10] ; Rumiko,Matsuoka ^[12] ; Kumarasamy,Thangaraj ^[7] ; Bruce D,Gelb ^[1]

作者单位： Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA.;The Mindich Child Health and Development Institute, Hess Center for Science and Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA. ^[1] The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[2] Department of Advanced Zoology and Biotechnology, Loyola College, Chennai, India. ^[3] The Mindich Child Health and Development Institute, Hess Center for Science and Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA. ^[4] Recinto de Ciencias Médicas, Universidad de Puerto Rico, San Juan, Puerto Rico. ^[5] Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA. ^[6] Center for Cellular and Molecular Biology, Hyderabad, India. ^[7] Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. ^[8] Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India. ^[9] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. ^[10] International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. ^[11] International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan.;Department of Pediatric Cardiology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. ^[12] Monaldi Hospital Second University of Naples (SUN), Naples, Italy. ^[13] Department of Cardio-Thoracic Surgery, Thanjavur Medical College, Thanjavur, India. ^[14] Division of Liver Diseases/Department of Medicine and Department of Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, USA. ^[15]

医学主题词成年人(Adult);发病年龄(Age of Onset);老年人(Aged);氨基酸序列(Amino Acid Sequence);动物(Animals);心肌病, 扩张型(Cardiomyopathy, Dilated);病例对照研究(Case-Control Studies);队列研究(Cohort Studies);细胞外信号调节MAP激酶类(Extracellular Signal-Regulated MAP Kinases);女(雌)性(Female);成纤维细胞(Fibroblasts);HEK293细胞(HEK293 Cells);人类(Humans);印度(India);日本(Japan);男(雄)性(Male);小鼠(Mice);中年人(Middle Aged);分子序列数据(Molecular Sequence Data);突变(Mutation);表型(Phenotype);患病率(Prevalence);原癌基因蛋白质c-raf(Proto-Oncogene Proteins c-raf);序列同源性, 氨基酸(Sequence Homology, Amino Acid);西罗莫司(Sirolimus);斑马鱼(Zebrafish)

DOI 10.1038/ng.2963

PMID 24777450

发布时间 2025-05-29

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RAF1 mutations in childhood-onset dilated cardiomyopathy.

Nature genetics

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RAF1 mutations in childhood-onset dilated cardiomyopathy.

Nature genetics

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Nature genetics

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