Next-generation sequencing identifies rare variants associated with Noonan syndrome - Wikidata - wikimedia - TriplyDB

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Next-generation sequencing identifies rare variants associated with Noonan syndrome

http://www.wikidata.org/entity/Q34025431

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RASopathies: unraveling mechanisms with animal models A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor Expansion of the RASopathies Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.mTORC2 is required for rit-mediated oxidative stress resistance.Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Feedback activation of neurofibromin terminates growth factor-induced Ras activation.Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.Conditioning adaptive combination of P-values method to analyze case-parent trios with or without population controls.Noonan syndrome - a new survey.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Giant cell lesions of the craniofacial bones Malignancy in Noonan syndrome and related disorders.Malignant hyperthermia, a Scandinavian update.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Recent advances in RASopathies.Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).RASopathy Gene Mutations in Melanoma.Modeling RASopathies with Genetically Modified Mouse Models.Testing for Noonan syndrome after increased nuchal translucency.Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Prolapse of all cardiac valves in Noonan syndrome.Pathogenetics of the RASopathies.Reporting genomic secondary findings: ACMG members weigh in.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

http://www.wikidata.org/entity/Q34025431

description

2014 nî lūn-bûn

@nan

2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հուլիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@ast

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@en

Next-generation sequencing identifies rare variants associated with Noonan syndrome

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type

label

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@ast

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@en

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@nl

prefLabel

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@ast

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@en

Next-generation sequencing identifies rare variants associated with Noonan syndrome

@nl

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PNAS.1324128111

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Proceedings of the National Academy of Sciences of the United States of America

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

@en

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Amy E Roberts

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

Benjamin G Neel

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Donna M Muzny

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Erica Tworog-Dube

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Hui-Wen Yu

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

Jeffrey G Reid

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Jiani Yin

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

Margaret B Morgan

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

Minerva Fernandez

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

Peng-Chieh Chen

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

P2860

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

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

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

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

Noonan syndrome

The RASopathies

A restricted spectrum of NRAS mutations causes Noonan syndrome

Crystal structure of the GTPase-activating domain of human p120GAP and implications for the interaction with Ras

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31

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111

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Christina K. Yung

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2014-07-21T00:00:00Z

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264633044

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25049390

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4128129

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