(Q38883660)

English

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

scientific article

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

based on heuristic

inferred from title

Florian Sennlaub

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

José-Alain Sahel

21

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kinga Bujakowska

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Said El Shamieh

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Xavier Guillonneau

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Olivier Goureau

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Christina Zeitz

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Marie-Elise Lancelot

9

object named as

Marie-Elise Lancelot

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

Thierry Léveillard

14

object named as

Thierry Léveillard

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

Saddek Mohand-Saïd

19

object named as

Saddek Mohand-Saïd

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

3

object named as

Elise Orhan

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

7

object named as

Aline Antonio

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

Christelle Michiels

8

object named as

Christelle Michiels

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

author name string

Melanie Letexier

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Jean-Paul Saraiva

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Hoan Nguyen

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Tien D Luu

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Olivier Poch

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Hélène Dollfus

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Shomi S Bhattacharya

20

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

language of work or name

1 reference

based on heuristic

inferred from title

publication date

10 September 2013

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

23

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

491-501

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24026677%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Phenotypic variation in enhanced S-cone syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Pattern ERG: clinical overview, and some observations on associated fundus autofluorescence imaging in inherited maculopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

A stop-codon mutation in the BRI gene associated with familial British dementia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Transcriptional code and disease map for adult retinal cell types.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Amyloid precursor protein is required for normal function of the rod and cone pathways in the mouse retina

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Ocular changes in heredo-oto-ophthalmo-encephalopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Expression of mBRI2 in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

BRICHOS: a conserved domain in proteins associated with dementia, respiratory distress and cancer

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

BRI2 (ITM2b) inhibits Abeta deposition in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

BRI2 inhibits amyloid beta-peptide precursor protein processing by interfering with the docking of secretases to the substrate.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

The extracellular domain of Bri2 (ITM2B) binds the ABri peptide (1-23) and amyloid beta-peptide (Abeta1-40): Implications for Bri2 effects on processing of amyloid precursor protein and Abeta aggregation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

BRI2 protein regulates β-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Functions of Aβ, sAPPα and sAPPβ : similarities and differences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Genetic alterations of the BRI2 gene: familial British and Danish dementias

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Effect of the disulfide bridge and the C-terminal extension on the oligomerization of the amyloid peptide ABri implicated in familial British dementia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Optic-nerve degeneration in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

“Mini-mental state”

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Integrating common and rare genetic variation in diverse human populations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

A map of human genome variation from population-scale sequencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

An alternative genotyping method using dye-labeled universal primer to reduce unspecific amplifications

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

NYX(Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Alzheimer's peptide kills cells of retina in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT439

21 January 2018

Identifiers

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=Q38883660&oldid=2116598081"