Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. (Q49081992)

18 February 2018

title

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. (English)

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18 February 2018

11

Gisela M Terwindt

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18 February 2018

Julie W Rutten

1

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18 February 2018

Elles M J Boon

2

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18 February 2018

Michael K Liem

3

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18 February 2018

Johannes G Dauwerse

4

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18 February 2018

Margot J Pont

5

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18 February 2018

Ellen Vollebregt

6

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18 February 2018

Anneke J Maat-Kievit

7

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18 February 2018

Hendrika B Ginjaar

8

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18 February 2018

Phillis Lakeman

9

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18 February 2018

Sjoerd G van Duinen

10

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18 February 2018

Saskia A J Lesnik Oberstein

12

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18 February 2018

publication date

7 October 2013

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18 February 2018

published in

Human Mutation

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18 February 2018

volume

34

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18 February 2018

issue

11

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18 February 2018

page(s)

1486-1489

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18 February 2018

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

inferred from DOI database lookup

7 January 2021

based on heuristic

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

inferred from DOI database lookup

7 January 2021

based on heuristic

A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22432

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22432

1 reference

18 February 2018

PubMed ID

24000151

1 reference

18 February 2018