Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. - Wikidata - awgldk - TriplyDB

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

http://www.wikidata.org/entity/Q37677419

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RAS Proteins and Their Regulators in Human Disease.

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Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

http://www.wikidata.org/entity/Q37677419

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 09 March 2017

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@en

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@nl

type

label

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@en

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@nl

prefLabel

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@en

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@nl

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JCI.INSIGHT.91225

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P1476

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.

@en

P2093

Calum A MacRae

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

David J Tester

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

Erin M Higgins

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

Heather Mason-Suares

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

J Martijn Bos

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

Jaeger P Ackerman

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

Karen W Gripp

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

Katia Sol-Church

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

Michael J Ackerman

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

Raul Urrutia

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P2860

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

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

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

A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

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

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

Analysis of protein-coding genetic variation in 60,706 humans

A restricted spectrum of NRAS mutations causes Noonan syndrome

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e91225

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scholarly article

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10.1172/JCI.INSIGHT.91225

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5

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2

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2017-03-09T00:00:00Z

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28289718

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P921

Ras protein signal transduction

Muscle RAS oncogene homolog

P932

5333962

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