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

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

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

http://www.wikidata.org/entity/Q34161616

about

MEK1 mutations confer resistance to MEK and B-RAF inhibition.Noonan syndrome: clinical aspects and molecular pathogenesis.The molecular genetics of congenital heart disease: a review of recent developments.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms Noonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?MEK genomics in development and disease Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Constitutive MEK1 activation rescues anthrax lethal toxin-induced vascular effects in vivo Atrial ERK1/2 activation in the embryo leads to incomplete Septal closure: a novel mouse model of atrial Septal defect.Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Constitutional bone impairment in Noonan syndrome.A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.Intrinsically active MEK variants are differentially regulated by proteinases and phosphatases

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

http://www.wikidata.org/entity/Q34161616

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2009 թվականի հունվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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type

label

Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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prefLabel

Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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European Journal of Human Genetics

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Spectrum of MEK1 and MEK2 gene ...... enotype-phenotype correlations

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Anna Sarkozy

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Francesca Pantaleoni

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Giuseppe Zampino

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Maria Cristina Digilio

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Maria Lisa Dentici

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Silvana Briuglia

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Simone Martinelli

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P2860

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

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

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

The cardiofaciocutaneous syndrome

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

Germline mutations in HRAS proto-oncogene cause Costello syndrome

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

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

Germline KRAS mutations cause Noonan syndrome

Stops along the RAS pathway in human genetic disease

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733-740

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scholarly article

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10.1038/EJHG.2008.256

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6

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17

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Bruno Dallapiccola

Marco Tartaglia

Francesca Lepri

Viviana Cordeddu

Rosangela Ferese

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2009-01-21T00:00:00Z

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23804006

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19156172

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2947095

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