(Q45957290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Pathogenetics of the RASopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

author name string

William E Tidyman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Katherine A Rauen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

language of work or name

1 reference

12 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

issue

R2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

page(s)

R123-R132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Comparative biochemical properties of normal and activated human ras p21 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

The product of ras is a GTPase and the T24 oncogenic mutant is deficient in this activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Biochemical and functional characterization of germ line KRAS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

A restricted spectrum of NRAS mutations causes Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Rit subfamily small GTPases: regulators in neuronal differentiation and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Next-generation sequencing identifies rare variants associated with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Recurrent inactivating RASA2 mutations in melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

21 January 2018

SYNGAP1: Mind the Gap

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Malfunctions within the Cbl interactome uncouple receptor tyrosine kinases from destructive transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Crystal structure of the tyrosine phosphatase SHP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

PTPN11 mutations in LEOPARD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Identification and characterization of a new mammalian mitogen-activated protein kinase kinase, MKK2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Spred is a Sprouty-related suppressor of Ras signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

External ear anomalies and hearing impairment in Noonan Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Tyrosine-phosphorylated low density lipoprotein receptor-related protein 1 (Lrp1) associates with the adaptor protein SHC in SRC-transformed cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

The LDL receptor-related protein 1 (LRP1) regulates the PDGF signaling pathway by binding the protein phosphatase SHP-2 and modulating SHP-2- mediated PDGF signaling events

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Dragging ras back in the ring

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW191

Differential expression of MEK1 and MEK2 during mouse development.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27412009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MEK2 is a kinase related to MEK1 and is differentially expressed in murine tissues.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27412009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW191

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

release_4xmfyasvcresbezujuhwkzc7x4

18 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4xmfyasvcresbezujuhwkzc7x4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412009%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference