The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. - Wikidata - wikimedia - TriplyDB

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

http://www.wikidata.org/entity/Q37159467

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Function, regulation and pathological roles of the Gab/DOS docking proteins Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome Raf family kinases: old dogs have learned new tricks Molecular origins of cancer: Molecular basis of colorectal cancer MAP'ing CNS development and cognition: an ERKsome process Genetic Syndromes associated with Congenital Heart Disease RASopathies: unraveling mechanisms with animal models Gene expression profiles of NO- and HNO-donor treated breast cancer cells: insights into tumor response and resistance pathways Development of the mammalian lymphatic vasculature MAPK pathway activation in pilocytic astrocytoma Small G proteins in the cardiovascular system: physiological and pathological aspects Genetics of valvular heart disease Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease RSK phosphorylates SOS1 creating 14-3-3-docking sites and negatively regulating MAPK activation Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism Novel signaling axis for ROS generation during K-Ras-induced cellular transformation BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.Unexpected Cartilage Phenotype in CD4-Cre-Conditional SOS-Deficient Mice MAPK signaling determines anxiety in the juvenile mouse brain but depression-like behavior in adults Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum ΔNp63α is a common inhibitory target in oncogenic PI3K/Ras/Her2-induced cell motility and tumor metastasis.Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing Competing views on cancer.miR-489 is a tumour-suppressive miRNA target PTPN11 in hypopharyngeal squamous cell carcinoma (HSCC).Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.Ras in cancer and developmental diseases Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations Clinical and Molecular Findings of Tunisian Patients with RASopathies.Regulation of kidney development by Shp2: an unbiased stereological analysis.Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Mek1/2 gene dosage determines tissue response to oncogenic Ras signaling in the skin.Fate and plasticity of the epidermis in response to congenital activation of BRAF.miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.MAPK activation in mature cataract associated with Noonan syndrome SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

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The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

http://www.wikidata.org/entity/Q37159467

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on August 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@en

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@nl

type

label

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@en

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@nl

prefLabel

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@en

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

@nl

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The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

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Shigeo Kure

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Tetsuya Niihori

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Yoichi Matsubara

http://www.w3.org/2001/XMLSchema#string

Yoko Aoki

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Yoko Narumi

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P2860

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

Tumor predisposition in Costello syndrome.

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome.

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

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

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

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

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

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992-1006

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scholarly article

P356

10.1002/HUMU.20748

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8

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29

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2008-08-01T00:00:00Z

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5380562

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18470943

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