(Q79358678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

2

Kenneth S Kosik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Christine P Donahue

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

59-65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

CADASIL: a monogenic condition causing stroke and subcortical vascular dementia

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Phenotypic variability of CADASIL and novel morphologic findings

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

CADASIL: Notch signaling defect or protein accumulation problem?

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Three novel Notch genes in zebrafish: implications for vertebrate Notch gene evolution and function

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Complementary and combinatorial patterns of Notch gene family expression during early mouse development.

1 reference

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7 January 2021

Notch1 is essential for postimplantation development in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Expression analysis of a Notch homologue in the mouse embryo

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Differential expression of Notch1 and Notch2 in developing and adult mouse brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Expression of a Delta homologue in prospective neurons in the chick

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Neurodegeneration: new clues on inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

De novo mutation in theNotch3 gene causing CADASIL

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Quantitative MRI in CADASIL: correlation with disability and cognitive performance

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

5-Methylcytosine in eukaryotic DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

CpG islands as gene markers in the human genome.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

Inference of functional regions in proteins by quantification of evolutionary constraints

1 reference

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7 January 2021

p53 mutations in human cancers

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

DbClustal: rapid and reliable global multiple alignments of protein sequences detected by database searches

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900206-4

7 January 2021

10.1016/S0888-7543(03)00206-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14667809%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference