(Q33909665)

English

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

0 references

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

object named as

Anne Joutel

1

0 references

Elisabeth Tournier-Lasserve

object named as

Elisabeth Tournier-Lasserve

5

0 references

author name string

Marie Monet

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Valérie Domenga

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Florence Riant

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

language of work or name

0 references

publication date

8 January 2004

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

74

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

338-347

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Notch activity in neural cells triggered by a mutant allele with altered glycosylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

CADASIL Notch3 mutant proteins localize to the cell surface and bind ligand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Variations on the Notch pathway in neural development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Notch and presenilin: a proteolytic mechanism emerges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Fringe differentially modulates Jagged1 and Delta1 signalling through Notch1 and Notch2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

A novel proteolytic cleavage involved in Notch signaling: the role of the disintegrin-metalloprotease TACE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

CADASIL: Notch signaling defect or protein accumulation problem?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Notch signaling: cell fate control and signal integration in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

5 July 2018

Regulation of notch signaling by o-linked fucose.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Structural requirements for notch signalling with delta and serrate during the development and patterning of the wing disc of Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

The abruptex mutations of notch disrupt the establishment of proneural clusters in Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Notch signaling inhibits muscle cell differentiation through a CBF1-independent pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181931

29 October 2018

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/14714274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14714274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic strategies in CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/14714274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A ligand-induced extracellular cleavage regulates gamma-secretase-like proteolytic activation of Notch1

1 reference

https://pubmed.ncbi.nlm.nih.gov/14714274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/14714274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33909665&oldid=1970860366"