(Q24290694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

ELOVL fatty acid elongase 4

3 November 2019

main subject

1 reference

G protein-coupled photoreceptor activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Don Zack

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Ian Macdonald

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

15

Sieving PA

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

Zhang K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Kniazeva M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Han M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Li W

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Yu Z

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Yang Z

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Li Y

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Metzker ML

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Allikmets R

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Kakuk LE

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Lagali PS

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Wong PW

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Figueroa DJ

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Austin CP

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Gould RJ

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Ayyagari R

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Petrukhin K

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

89-93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

3 November 2019

cites work

1 reference

7 January 2021

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

1 reference

7 January 2021

Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family

1 reference

7 January 2021

ELO2 and ELO3, Homologues of the Saccharomyces cerevisiae ELO1 Gene, Function in Fatty Acid Elongation and Are Required for Sphingolipid Formation

1 reference

7 January 2021

Cig30, a mouse member of a novel membrane protein gene family, is involved in the recruitment of brown adipose tissue.

1 reference

7 January 2021

Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids

1 reference

7 January 2021

Eight histidine residues are catalytically essential in a membrane-associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase

1 reference

7 January 2021

Retrieval of transmembrane proteins to the endoplasmic reticulum

1 reference

7 January 2021

The Golgi-localization of yeast Emp47p depends on its di-lysine motif but is not affected by the ret1-1 mutation in alpha-COP.

1 reference

7 January 2021

The fatty acid chain elongation system of mammalian endoplasmic reticulum

1 reference

7 January 2021

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

7 January 2021

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

1 reference

7 January 2021

The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

1 reference

7 January 2021

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

7 January 2021

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

1 reference

7 January 2021

Chemistry and metabolism of lipids in the vertebrate retina

1 reference

7 January 2021

Regulation of the biosynthesis of 4,7,10,13,16,19-docosahexaenoic acid

1 reference

7 January 2021

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

1 reference

7 January 2021

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

1 reference

7 January 2021

The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy

1 reference

7 January 2021

Identification of the gene responsible for Best macular dystrophy

1 reference

7 January 2021

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

1 reference

7 January 2021

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

1 reference

7 January 2021

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

1 reference

7 January 2021

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

1 reference

7 January 2021

A simple method for displaying the hydropathic character of a protein

1 reference

7 January 2021

Identifiers

DOI

10.1038/83817

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138005%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 November 2019

1025860269

0 references

Fatcat ID

release_t2z2lxjfwbcjhmq5gehvhe2k7i

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/t2z2lxjfwbcjhmq5gehvhe2k7i

24 November 2022

mapped directly with Wikidata item

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017