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

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Language	Label	Description	Also known as
English	The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation	scientific article

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scholarly article

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Europe PubMed Central

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

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author name string

William E Tidyman

1

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Katherine A Rauen

2

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language of work or name

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publication date

June 2009

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Current Opinion in Genetics & Development

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19

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3

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230-6

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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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7 April 2017

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

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

1 reference

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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

1 reference

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7 April 2017

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

1 reference

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7 April 2017

Germline KRAS mutations cause Noonan syndrome

1 reference

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7 April 2017

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

1 reference

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

7 April 2017

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

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7 April 2017

RASA1: variable phenotype with capillary and arteriovenous malformations

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Spatial and temporal patterns of ERK signaling during mouse embryogenesis

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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

1 reference

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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

1 reference

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

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Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

1 reference

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

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Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

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NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

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HRAS and the Costello syndrome

1 reference

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

1 reference

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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.

1 reference

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

1 reference

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

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Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

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Autoimmune lymphoproliferative syndrome.

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Spred is a Sprouty-related suppressor of Ras signalling

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Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21.

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K-ras is an essential gene in the mouse with partial functional overlap with N-ras

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

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

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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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Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

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PTPN11 mutations in LEOPARD syndrome

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The cardiofaciocutaneous syndrome

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7 January 2021

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10.1016/J.GDE.2009.04.001

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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