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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

http://www.wikidata.org/entity/Q24655603

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome Modeling congenital disease and inborn errors of development in Drosophila melanogaster Regulation of small GTPases by GEFs, GAPs, and GDIs Development of the mammalian lymphatic vasculature Of mice and men: molecular genetics of congenital heart disease Treatment of neurodevelopmental disorders in adulthood Noonan syndrome Lymphatic fate specification: an ERK-controlled transcriptional program Developmental disease and cancer: biological and clinical overlaps Different Contribution of Redox-Sensitive Transient Receptor Potential Channels to Acetaminophen-Induced Death of Human Hepatoma Cell Line.A restricted spectrum of NRAS mutations causes Noonan syndrome Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?Raf kinases in cancer-roles and therapeutic opportunities Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity RAS diseases in children Phosphotyrosine signaling proteins that drive oncogenesis tend to be highly interconnected The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway Increase in cerebellar volume in Cavalier King Charles Spaniels with Chiari-like malformation and its role in the development of syringomyelia Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.Ras history: The saga continues.A comprehensive survey of Ras mutations in cancer.LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.The coming of age of phosphoproteomics--from large data sets to inference of protein functions Unexpected Cartilage Phenotype in CD4-Cre-Conditional SOS-Deficient Mice LNDriver: identifying driver genes by integrating mutation and expression data based on gene-gene interaction network.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.RAF1 mutations in childhood-onset dilated cardiomyopathy Chemical characterization and antitumor activities of polysaccharide extracted from Ganoderma lucidum.Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development.Genetic and environmental melanoma models in fish Noonan syndrome.

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

http://www.wikidata.org/entity/Q24655603

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2009 nî lūn-bûn

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2009年の論文

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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J.GDE.2009.04.001

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Current Opinion in Genetics & Development

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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Katherine A Rauen

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William E Tidyman

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Crystal structure of the tyrosine phosphatase SHP-2

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

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