The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders (Q37159467)

18 August 2017

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title

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders (English)

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18 August 2017

Yoko Aoki

1

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18 August 2017

Tetsuya Niihori

2

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18 August 2017

Yoko Narumi

3

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18 August 2017

Shigeo Kure

4

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18 August 2017

Yoichi Matsubara

5

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18 August 2017

1 August 2008

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18 August 2017

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18 August 2017

29

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18 August 2017

8

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18 August 2017

992-1006

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Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease

18 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

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/10.1002%2FHUMU.20748

Tumor predisposition in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

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/10.1002%2FHUMU.20748

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Insulin signaling in mice expressing reduced levels of Syp.

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Skin hyperkeratosis and papilloma formation in transgenic mice expressing a ras oncogene from a suprabasal keratin promoter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20748

1 reference

7 January 2021

Mek2 is dispensable for mouse growth and development

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Expression of the H-ras proto-oncogene is controlled by alternative splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mutations of the BRAF gene in human cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Transforming genes of human bladder and lung carcinoma cell lines are homologous to the ras genes of Harvey and Kirsten sarcoma viruses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Targeting RAS signalling pathways in cancer therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Targeted genomic disruption of H-ras and N-ras, individually or in combination, reveals the dispensability of both loci for mouse growth and development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Analysis of the transforming potential of the human H-ras gene by random mutagenesis

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Shp-2 tyrosine phosphatase: signaling one cell or many

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Induction and apoptotic regression of lung adenocarcinomas by regulation of a K-Ras transgene in the presence and absence of tumor suppressor genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Guilty as charged: B-RAF is a human oncogene

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Oncogenic Ras in tumour progression and metastasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Tumor induction by an endogenous K-ras oncogene is highly dependent on cellular context

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Transgenic activation of Ras in neurons promotes hypertrophy and protects from lesion-induced degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Expression of activated MEK1 in differentiating epidermal cells is sufficient to generate hyperproliferative and inflammatory skin lesions

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Crystal structure of the tyrosine phosphatase SHP-2

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Analysis of lung tumor initiation and progression using conditional expression of oncogenic K-ras

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Somatic activation of the K-ras oncogene causes early onset lung cancer in mice

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Cellular Oncogenes and Multistep Carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutations in LEOPARD syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Noonan syndrome: relationships between genotype, growth, and growth factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Site-specific incorporation of a phosphotyrosine mimetic reveals a role for tyrosine phosphorylation of SHP-2 in cell signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Genetics of the Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

RAS oncogenes: the first 30 years.

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Regulation of long-term potentiation by H-Ras through NMDA receptor phosphorylation

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https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mouse model for lung tumorigenesis through Cre/lox controlled sporadic activation of the K-Ras oncogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

The role of Shp2 (PTPN11) in cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

The Noonan-CFC controversy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Structures of human MAP kinase kinase 1 (MEK1) and MEK2 describe novel noncompetitive kinase inhibition.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Ras signaling from plasma membrane and endomembrane microdomains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Coordinate regulation of STAT signaling and c-fos expression by the tyrosine phosphatase SHP-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Three human transforming genes are related to the viral ras oncogenes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

JAK/STAT, Raf/MEK/ERK, PI3K/Akt and BCR-ABL in cell cycle progression and leukemogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mechanism of activation of a human oncogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Small GTP-binding proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Activation of the T24 bladder carcinoma transforming gene is linked to a single amino acid change.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Germ-line and somatic PTPN11 mutations in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Endothelial apoptosis in Braf-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Genotype-phenotype correlations in Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20748

7 January 2021

Identifiers

DOI

10.1002/HUMU.20748

1 reference

18 August 2017

1 reference