Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Item
http://www.wikidata.org/entity/Q34056160
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic TelangiectasiaDelineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsMutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertensionMutant p53 promotes tumor progression and metastasis by the endoplasmic reticulum UDPase ENTPD5.Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses.Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1IL23R (Interleukin 23 Receptor) Variants Protective against Inflammatory Bowel Diseases (IBD) Display Loss of Function due to Impaired Protein Stability and Intracellular Trafficking.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.Intracellular trafficking of transforming growth factor β receptors.Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
P2860

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Item
http://www.wikidata.org/entity/Q34056160
description
2011 nî lūn-bûn
@nan
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@ast
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@en
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@nl
type
label
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@ast
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@en
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@nl
prefLabel
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@ast
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@en
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
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P1433
P1476
Endoplasmic reticulum quality ...... y haemorrhagic telangiectasia.
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0026206
P407
P433
P478
P50
P577
P5875
P698
P921
P932