Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy - Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar A; Schackwitz, Wendy; Ustaszewska, Anna; Landstrom, Andrew; Bos, J Martijn; Ommen, Steve R; et al. (Nature genetics, 2007)
Keywords: Agriculture; Animal Genetics and Genomics; Animals; Binding sites; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - metabolism; Cardiovascular disease; Chlorocebus aethiops; Complex syndromes; Complications and side effects; COS Cells; Developmental disabilities; Diagnosis; Diseases of the osteoarticular system; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Human Genetics; Humans; Intracellular Signaling Peptides and Proteins - genetics; LEOPARD Syndrome - genetics; LEOPARD Syndrome - metabolism; letter; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Mutants; Mutation; Mutation, Missense; Noonan syndrome; Noonan Syndrome - genetics; Noonan Syndrome - metabolism; Protein Structure, Tertiary; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein Tyrosine Phosphatases - genetics; Proto-Oncogene Proteins c-raf - chemistry; Proto-Oncogene Proteins c-raf - genetics; Proto-Oncogene Proteins c-raf - metabolism; ras Proteins - metabolism; Risk factors; Signal Transduction; Transfection; Italy; Nervous system diseases; Diseases of the osteoarticular system; Cardiovascular disease; Myocardial disease; Genital diseases; Genetic disease; Heart disease; Noonan syndrome; Hypertrophic cardiomyopathy; ENT disease; Mutation; Osteochondrodysplasia; LEOPARD syndrome