(Q34440570)

2 August 2017

title

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms (English)

1 reference

2 August 2017

1

1 reference

2 August 2017

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Bruce D Gelb

2

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2 August 2017

language of work or name

English

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publication date

19 October 2010

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Annals of the New York Academy of Sciences

2 August 2017

published in

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2 August 2017

volume

1214

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2 August 2017

page(s)

99-121

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Noonan syndrome: clinical aspects and molecular pathogenesis

2 August 2017

cites work

1 reference

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Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling

6 July 2018

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The scaffold protein Shoc2/SUR-8 accelerates the interaction of Ras and Raf.

6 July 2018

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A restricted spectrum of NRAS mutations causes Noonan syndrome

6 July 2018

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

6 July 2018

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

6 July 2018

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

6 July 2018

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

6 July 2018

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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

6 July 2018

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SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

6 July 2018

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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

6 July 2018

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SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

6 July 2018

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

6 July 2018

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

6 July 2018

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Neurofibromatosis type 1 revisited

6 July 2018

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Genotype differences in cognitive functioning in Noonan syndrome

6 July 2018

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Ras oncogenes: split personalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Protein tyrosine phosphatases in the JAK/STAT pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

6 July 2018

RTK/Ras/MAPK signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The molecular functions of Shp2 in the Ras/Mitogen-activated protein kinase (ERK1/2) pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Getting a first clue about SPRED functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Raf kinases: function, regulation and role in human cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Integrating signals from RTKs to ERK/MAPK.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Ras oncogenes and their downstream targets

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Hyperactive Ras in developmental disorders and cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Recent developments in neurofibromatosis type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

New insight into BRAF mutations in cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Trafficking and signaling by fatty-acylated and prenylated proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Raf kinases: oncogenesis and drug discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The cardiofaciocutaneous syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Neurofibromin: a general outlook

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

LEOPARD syndrome: clinical diagnosis in the first year of life

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Stops along the RAS pathway in human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Germline KRAS mutations cause Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Germline mutations in HRAS proto-oncogene cause Costello syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

K-ras as a target for cancer therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Signaling interplay in Ras superfamily function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Tumor predisposition in Costello syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The Ras superfamily at a glance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Distinct requirements for the Sprouty domain for functional activity of Spred proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The RAF proteins take centre stage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Structural analysis of autoinhibition in the Ras activator Son of sevenless

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Genotype-phenotype correlations in Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

SHP-2 and myeloid malignancies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

While K-ras is essential for mouse development, expression of the K-ras 4A splice variant is dispensable.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Mek2 is dispensable for mouse growth and development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Costello syndrome: an overview

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

A growing family of guanine nucleotide exchange factors is responsible for activation of ras-family GTPases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Neurofibromin regulates G protein-stimulated adenylyl cyclase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The biology and enzymology of protein N-myristoylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Spred is a Sprouty-related suppressor of Ras signalling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Blocking oncogenic Ras signaling for cancer therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Embryonic lethality and fetal liver apoptosis in mice lacking the c-raf-1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The leucine-rich repeat protein SUR-8 enhances MAP kinase activation and forms a complex with Ras and Raf

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Juvenile myelomonocytic leukemia and Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Feeding difficulties and foregut dysmotility in Noonan's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Crystal structure of the tyrosine phosphatase SHP-2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Endothelial apoptosis in Braf-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Occurrence of myeloproliferative disorder in patients with Noonan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The role of the PH domain in the signal-dependent membrane targeting of Sos.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Molecular genetics of neurofibromatosis type 1 (NF1)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Properties of MEKs, the kinases that phosphorylate and activate the extracellular signal-regulated kinases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Transformation of mammalian cells by constitutively active MAP kinase kinase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Noonan syndrome. An update and review for the primary pediatrician

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Activation of MAP kinase kinase is necessary and sufficient for PC12 differentiation and for transformation of NIH 3T3 cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Guanine nucleotide exchange factors: activators of the Ras superfamily of proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Biological properties of human c-Ha-ras1 genes mutated at codon 12.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The Ullrich-Noonan syndrome (Turner phenotype).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The heart in lentiginosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

rasH mutants deficient in GTP binding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Mutations of the ras gene product p21 that abolish guanine nucleotide binding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

ras oncogenes in human cancer: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Noonan-like/multiple giant cell lesion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Multiple lentigines syndrome. Case report and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

A new syndrome: mental subnormality and nasal papillomata

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

6 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

PTPN11 mutations in LEOPARD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Multiple lentigines syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Practical guidelines for evaluation of loose anagen hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

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/10.1111%2FJ.1749-6632.2010.05790.X

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

The oncogenic activation of human p21ras by a novel mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Biochemical and functional characterization of germ line KRAS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Neurofibromin is actively transported to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Post-natal lethality and neurological and gastrointestinal defects in mice with targeted disruption of the A-Raf protein kinase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

The Neurofibromatosis 1 Gene Product Neurofibromin Regulates Pituitary Adenylate Cyclase-Activating Polypeptide-Mediated Signaling in Astrocytes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010252

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

27 October 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Pigmented villonodular synovitis in a patient with Noonan syndrome andSOS1gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05790.X

Loose Anagen Hair Syndrome and Loose Anagen Hair

21 January 2018

1 reference

12 December 2020

The Noonan-CFC controversy

1 reference

12 December 2020

K-ras is essential for the development of the mouse embryo

1 reference

12 December 2020

Neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

1 reference

12 December 2020

Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene

1 reference

12 December 2020

Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

The Leopard (multiple lentigines) syndrome revisited

1 reference

12 December 2020

Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome

1 reference

12 December 2020

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

12 December 2020

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes

1 reference

12 December 2020

10.1111/J.1749-6632.2010.05790.X

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference