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

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

http://www.wikidata.org/entity/Q37004824

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A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition Noonan syndrome A restricted spectrum of NRAS mutations causes Noonan syndrome BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors Oncogenic RIT1 mutations in lung adenocarcinoma.Current management of juvenile myelomonocytic leukemia and the impact of RAS mutations A graph theoretic approach to utilizing protein structure to identify non-random somatic mutations.Ras and Rap signaling in synaptic plasticity and mental disorders.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Noonan syndrome: clinical aspects and molecular pathogenesis.Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome KRAS and BRAF mutational status in colon cancer from Albanian patients.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation Noonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site.KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling.Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants KRAS mutations and subtyping in colorectal cancer in Jordanian patients.Genetics of Bladder Malignant Tumors in Childhood An unexpected new role of mutant Ras: perturbation of human embryonic development De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Ras/MAPK syndromes and childhood hemato-oncological diseases.Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.Genotype and phenotype spectrum of NRAS germline variants.De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.Negative regulation of Shh levels by Kras and Fgfr2 during hair follicle development NRAS Mutations in Noonan Syndrome.An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

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

http://www.wikidata.org/entity/Q37004824

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 20 October 2006

@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

Expansion of the genotypic and ...... s with KRAS germline mutations

@en

Expansion of the genotypic and ...... with KRAS germline mutations.

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type

label

Expansion of the genotypic and ...... s with KRAS germline mutations

@en

Expansion of the genotypic and ...... with KRAS germline mutations.

@nl

prefLabel

Expansion of the genotypic and ...... s with KRAS germline mutations

@en

Expansion of the genotypic and ...... with KRAS germline mutations.

@nl

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JMG.2006.046300

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Journal of Medical Genetics

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Expansion of the genotypic and ...... s with KRAS germline mutations

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Anna Leana Schulz

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Anne S Quante

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Christian P Kratz

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Dagmar Hansmann

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Denise Horn

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Dirk Schnabel

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Helmut Barth

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Katarina Lehmann

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Lars-Erik Wehner

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Martina Kreiss-Nachtsheim

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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

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

The cardiofaciocutaneous syndrome

The guanine nucleotide-binding switch in three dimensions

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

Germline mutations in HRAS proto-oncogene cause Costello 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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131-135

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10.1136/JMG.2006.046300

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2

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Kerstin Kutsche

Rudolf Korinthenberg

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6738660

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