The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation (Q24655603)

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English	The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation	scientific article

Statements

instance of

scholarly article

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review article

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stated in

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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PubMed Central

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7 April 2017

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

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7 April 2017

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

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PubMed Central

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7 April 2017

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

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7 April 2017

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

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PubMed Central

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7 April 2017

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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7 April 2017

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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PubMed Central

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7 April 2017

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

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PubMed Central

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7 April 2017

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

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PubMed Central

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7 April 2017

Germline KRAS mutations cause Noonan syndrome

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PubMed Central

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7 April 2017

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

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PubMed Central

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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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PubMed Central

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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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PubMed Central

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7 April 2017

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

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PubMed Central

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7 April 2017

ras oncogenes in human cancer: a review

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7 April 2017

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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PubMed Central

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28 September 2017

Neurofibromatosis type 1 revisited

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PubMed Central

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28 September 2017

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway

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PubMed Central

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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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PubMed Central

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28 September 2017

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

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PubMed Central

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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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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743116

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28 September 2017

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

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PubMed Central

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28 September 2017

HRAS and the Costello syndrome

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743116

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28 September 2017

The natural history of Noonan syndrome: a long-term follow-up study

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PubMed Central

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28 September 2017

Genetic disorders of programmed cell death in the immune system

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PubMed Central

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28 September 2017

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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PubMed Central

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28 September 2017

Essential role of B-Raf in ERK activation during extraembryonic development

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PubMed Central

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28 September 2017

The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions

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PubMed Central

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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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PubMed Central

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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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PubMed Central

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28 September 2017

Autoimmune lymphoproliferative syndrome.

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PubMed Central

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28 September 2017

Spred is a Sprouty-related suppressor of Ras signalling

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PubMed Central

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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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PubMed Central

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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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30 May 2018

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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28 November 2018

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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PubMed Central

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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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PubMed Central

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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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PubMed Central

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28 November 2018

MAP kinase in situ activation atlas during Drosophila embryogenesis

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PubMed Central

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28 November 2018

Induction of Xenopus oocyte meiotic maturation by MAP kinase.

1 reference

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PubMed Central

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28 November 2018

The cardiofaciocutaneous syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FJ.GDE.2009.04.001

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.GDE.2009.04.001

1 reference

stated in

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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