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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
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scholarly article
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review article
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Europe PubMed Central
title
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
(English)
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author name string
William E Tidyman
series ordinal
1
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Katherine A Rauen
series ordinal
2
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language of work or name
English
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publication date
June 2009
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published in
Current Opinion in Genetics & Development
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volume
19
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issue
3
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page(s)
230-6
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cites work
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
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Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
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A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
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PubMed Central
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Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts
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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation
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7 April 2017
Crystal structure of the tyrosine phosphatase SHP-2
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
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Germline gain-of-function mutations in SOS1 cause Noonan syndrome
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PubMed Central
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Germline KRAS mutations cause Noonan syndrome
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PubMed Central
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
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7 April 2017
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
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PubMed Central
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7 April 2017
Germline mutations in HRAS proto-oncogene cause Costello syndrome
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7 April 2017
RASA1: variable phenotype with capillary and arteriovenous malformations
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PubMed Central
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7 April 2017
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF
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7 April 2017
Spatial and temporal patterns of ERK signaling during mouse embryogenesis
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7 April 2017
ras oncogenes in human cancer: a review
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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors
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Neurofibromatosis type 1 revisited
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Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
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28 September 2017
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
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28 September 2017
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
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28 September 2017
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
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PubMed Central
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NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
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HRAS and the Costello syndrome
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PubMed Central
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The natural history of Noonan syndrome: a long-term follow-up study
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28 September 2017
Genetic disorders of programmed cell death in the immune system
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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
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Essential role of B-Raf in ERK activation during extraembryonic development
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28 September 2017
The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions
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28 September 2017
Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts
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28 September 2017
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
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28 September 2017
Autoimmune lymphoproliferative syndrome.
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28 September 2017
Spred is a Sprouty-related suppressor of Ras signalling
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28 September 2017
Expression of activated MAP kinase in Xenopus laevis embryos: evaluating the roles of FGF and other signaling pathways in early induction and patterning
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28 September 2017
Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21.
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28 September 2017
K-ras is an essential gene in the mouse with partial functional overlap with N-ras
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28 September 2017
Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules
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28 September 2017
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
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28 September 2017
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
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28 September 2017
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes
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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
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28 November 2018
Neurological complications of cardio-facio-cutaneous syndrome.
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28 November 2018
Biochemical and functional characterization of germ line KRAS mutations
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28 November 2018
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.
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PubMed Central
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28 November 2018
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
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28 November 2018
Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome
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28 November 2018
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
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28 November 2018
Fgf signalling controls the dorsoventral patterning of the zebrafish embryo
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28 November 2018
PTPN11 mutations in LEOPARD syndrome
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28 November 2018
MAP kinase in situ activation atlas during Drosophila embryogenesis.
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28 November 2018
Induction of Xenopus oocyte meiotic maturation by MAP kinase.
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28 November 2018
The cardiofaciocutaneous syndrome
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FJ.GDE.2009.04.001
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7 January 2021
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Identifiers
DOI
10.1016/J.GDE.2009.04.001
1 reference
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Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8468
OpenCitations bibliographic resource ID
8468
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8468
PMC publication ID
2743116
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8468
PubMed publication ID
19467855
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8468
ResearchGate publication ID
26239395
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