About: Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

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About: Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 2019

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 2018 (uk) article scientifique publié en 2018 (fr) im November 2018 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2019 (ast) scientific article published on 01 March 2019 (en)
publication date	wds:Q64042419-2724714B-7301-4363-B4C5-C2F554EA3FC9
publication date	2018-11-27 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q64042419-1C94BC41-714E-4562-8B84-24899BF4ACA5
language of work or name	English
author name string	wds:Q64042419-0004CA56-5D47-4F41-8FAB-616C0C416F52 wds:Q64042419-2F067792-9D8C-4D5F-8307-1550D3D0DC9B wds:Q64042419-33DBD80B-2FDE-44D4-9A77-1349FEB6CB41 wds:Q64042419-3CA89F42-93C7-4DEA-9BCB-D0564381A2A2 wds:Q64042419-40F71590-7F7F-4812-A481-B42B30CA3990 wds:Q64042419-5231CD38-E444-4F5C-9D25-085125283AE7 wds:Q64042419-8BD16544-8D78-454C-A763-010D8482CB95 wds:Q64042419-D4557734-D6B7-4CC8-824B-6DE685887270 wds:Q64042419-FCA54844-EFC5-4AED-B02E-E2BF66DB977B
author name string	Martin Zenker Emanuele Bellacchio Leonardo Salviati Guntram Borck Marialetizia Motta Marco Tartaglia Ion C Cirstea Konstantin Schneider-Heieck Miray Fidan
rdfs:label	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (en) Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (nl)
skos:prefLabel	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (en) Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (nl)
name	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (en) Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (nl)
author	wds:Q64042419-06B42007-E1A4-40F3-B33F-8397E85B07A9 wds:Q64042419-40739A0C-1747-4C6F-9E04-8ADFFF4FA194
author	Simona Coppola Francesca Pantaleoni
title	wds:Q64042419-9A6FBB09-E3E9-441A-86C9-E4FDDE860C39
title	Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (en)
page(s)	wds:Q64042419-801E5D25-69EE-4731-9A20-7F5568064E04
page(s)	1007-1022
instance of	wds:Q64042419-2BAE5265-8028-49C4-BF49-B16F7B92146D
instance of	scholarly article
main subject	wds:Q64042419-DBA92C88-76D0-4282-BFD3-4E2BDB229925
main subject	Noonan syndrome
PubMed ID	wds:Q64042419-9098989F-56C0-4481-9498-E703BD5A6AA4
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30481304
PubMed ID	30481304
published in	wds:Q64042419-14DAE6C9-92FF-4044-AF12-6BC5ECDA09AB
published in	Human Molecular Genetics
issue	wds:Q64042419-DF218D7A-8BA9-4F95-A4DA-47D9C4F3F60E
volume	wds:Q64042419-0DE9D0CE-260D-4F42-86C6-CF114BFB1422
issue	6
volume	28
DOI	wds:Q64042419-2CC9975C-FADE-4BB6-972E-E64DD7DAF66B
DOI	http://dx.doi.org/10.1093/HMG/DDY412
DOI	10.1093/HMG/DDY412
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q64042419
is cites work of	Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy RIT1 oncoproteins escape LZTR1-mediated proteolysis Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
is cites work of	wds:Q94528606-7071E026-F0BE-455B-9A14-E97D84808E6A wds:Q64968050-56433589-64AE-4397-BBD7-A88BAF3F3E99 wds:Q100311434-5D75027B-762E-4E2B-B49A-E1ABDE582F93 wds:Q92370778-193B69AA-42A9-4CBD-8475-553462C18054 wds:Q64039372-71985638-6713-446F-AABB-D4A349E9B555 wds:Q92134766-FA3AE442-40E6-4277-9E71-9649E4956E1F wds:Q92303053-26D45B9B-26AD-4F82-871F-FA6B9B7321E8 wds:Q92550947-6A8FA8E7-5CBF-4145-AE40-DB7EAC64B63F

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