(Q50488360)

English

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

scientific article published on 4 November 2012

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

endoplasmic reticulum

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7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Alistair N Hume

object named as

Alistair N Hume

1

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Lihadh Al-Gazali

6

object named as

Lihadh Al-Gazali

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

author name string

Anne John

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Nadia A Akawi

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Aydah M Al-Awadhi

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Sarah S Al-Suwaidi

5

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

publication date

4 November 2012

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Molecular and Cellular Biochemistry

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

373

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

1-2

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

247-257

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

Quality control in the endoplasmic reticulum

1 reference

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21 January 2018

Quality control in the endoplasmic reticulum protein factory

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Checkpoints in ER-associated degradation: excuse me, which way to the proteasome?

1 reference

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21 January 2018

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

1 reference

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21 January 2018

Protein quality control in the early secretory pathway

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Protein quality control in the ER: the recognition of misfolded proteins

1 reference

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21 January 2018

ERAD: the long road to destruction

1 reference

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21 January 2018

Traffic jam: a compendium of human diseases that affect intracellular transport processes

1 reference

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21 January 2018

Traffic jams II: an update of diseases of intracellular transport

1 reference

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21 January 2018

Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases

1 reference

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21 January 2018

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

1 reference

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21 January 2018

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

How cells read TGF-beta signals

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Disease-associated mutations in conserved residues of ALK-1 kinase domain

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

BMP9 and BMP10 are critical for postnatal retinal vascular remodeling.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

1 reference

https://api.crossref.org/works/10.1007%2FS11010-012-1496-3

21 January 2018

The natural history of epistaxis in hereditary hemorrhagic telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23124896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Controlling TGF-beta signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/23124896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S11010-012-1496-3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/23124896

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