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The RASopathies
scientific article
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scholarly article
1 reference
stated in
PubMed
title
The RASopathies
(English)
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author name string
Katherine A. Rauen
series ordinal
1
1 reference
stated in
Crossref
language of work or name
English
1 reference
stated in
PubMed
publication date
2013
1 reference
stated in
PubMed
published in
Annual Review of Genomics and Human Genetics
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stated in
PubMed
volume
14
1 reference
stated in
PubMed
page(s)
355-69
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stated in
PubMed
cites work
Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF
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PubMed Central
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
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PubMed Central
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Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial
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21 March 2017
A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity
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PubMed Central
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21 March 2017
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
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PubMed Central
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21 March 2017
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
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PubMed Central
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21 March 2017
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
1 reference
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PubMed Central
reference URL
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21 March 2017
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
1 reference
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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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PubMed Central
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21 March 2017
A restricted spectrum of NRAS mutations causes Noonan syndrome
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PubMed Central
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21 March 2017
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
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21 March 2017
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
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PubMed Central
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21 March 2017
Germline KRAS mutations cause Noonan syndrome
1 reference
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PubMed Central
reference URL
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21 March 2017
Germline KRAS and BRAF mutations in cardio-facio-cutaneous 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=4115674
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21 March 2017
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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21 March 2017
Germline mutations in HRAS proto-oncogene cause Costello syndrome
1 reference
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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=4115674
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21 March 2017
RASA1: variable phenotype with capillary and arteriovenous malformations
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PubMed Central
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21 March 2017
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
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21 March 2017
ras oncogenes in human cancer: a review
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7 April 2017
Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1.
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28 September 2017
Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish
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PubMed Central
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28 September 2017
Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development
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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=4115674
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28 September 2017
Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study
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PubMed Central
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28 September 2017
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
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PubMed Central
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28 September 2017
Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies
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PubMed Central
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28 September 2017
Legius syndrome in fourteen families.
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PubMed Central
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28 September 2017
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome
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PubMed Central
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28 September 2017
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
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PubMed Central
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28 September 2017
Noonan syndrome: clinical features, diagnosis, and management guidelines
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PubMed Central
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28 September 2017
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
1 reference
stated in
PubMed Central
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28 September 2017
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
1 reference
stated in
PubMed Central
reference URL
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28 September 2017
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.
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PubMed Central
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28 September 2017
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Neurofibromatosis type 1 revisited
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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=4115674
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28 September 2017
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Mouse models for BRAF-induced cancers
1 reference
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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=4115674
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28 September 2017
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Malfunctions within the Cbl interactome uncouple receptor tyrosine kinases from destructive transport
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
HRAS and the Costello syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
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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=4115674
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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
Lipid posttranslational modifications. Farnesyl transferase inhibitors
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28 September 2017
Tumor predisposition in Costello syndrome
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PubMed Central
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28 September 2017
Spred is a Sprouty-related suppressor of Ras signalling
1 reference
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PubMed Central
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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
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 September 2017
ERK inhibition rescues defects in fate specification of Nf1-deficient neural progenitors and brain abnormalities
1 reference
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PubMed Central
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31 May 2018
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes
1 reference
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PubMed Central
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31 May 2018
The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.
1 reference
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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=4115674
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28 November 2018
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 November 2018
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Neurological complications of cardio-facio-cutaneous syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 November 2018
Biochemical and functional characterization of germ line KRAS mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
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28 November 2018
Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
PTPN11 mutations in LEOPARD syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115674
retrieved
28 November 2018
Paternal bias in parental origin of HRAS mutations in Costello syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23875798
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23875798
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23875798
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1146/ANNUREV-GENOM-091212-153523
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8504
OpenCitations bibliographic resource ID
8504
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8504
PMC publication ID
4115674
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8504
PubMed publication ID
23875798
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
8504
ResearchGate publication ID
251233410
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