A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy (Q24324625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

ATP binding cassette subfamily A member 4

1 November 2019

main subject

photoreceptor protein

0 references

1 reference

GOA release 2020-03-11

author

Noah F. Shroyer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Amir Rattner

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Michael Dean

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

5

A Hutchinson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

R Allikmets

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

N Singh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

H Sun

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Chidambaram

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

B Gerrard

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L Baird

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

D Stauffer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Peiffer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Smallwood

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Y Li

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

K L Anderson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R A Lewis

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Nathans

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Leppert

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J R Lupski

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

236-246

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 November 2019

cites work

1 reference

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

20 April 2017

1 reference

Cloning of two novel ABC transporters mapping on human chromosome 9

20 April 2017

1 reference

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database

20 April 2017

1 reference

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

20 April 2017

1 reference

Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein

20 April 2017

1 reference

A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters

20 April 2017

1 reference

Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease

20 April 2017

1 reference

MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine

20 April 2017

1 reference

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

20 April 2017

1 reference

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

20 April 2017

1 reference

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

20 April 2017

1 reference

Basic local alignment search tool

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

Über familiäre, progressive Degeneration in der Maculagegend des Auges

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Fundus flavimaculatus. A clinical classification

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Stargardt's Disease and Fundus Flavimaculatus

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Genetic fine mapping of the gene for recessive Stargardt disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Evolution of ATP-binding cassette transporter genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Homozygous human TAP peptide transporter mutation in HLA class I deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Cloning and organization of the abc and mdl genes of Escherichia coli: relationship to eukaryotic multidrug resistance

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Mapping and sequencing of two yeast genes belonging to the ATP-binding cassette superfamily.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Chemistry of Visual Adaptation in the Rat

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Lipids of ocular tissues. 8. The effects of essential fatty acid deficiency on the phospholipids of the photoreceptor membranes of rat retina

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Fundus flavimaculatus without maculopathy. A clinicopathologic study

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Histopathology of Incipient Fundus Flavimaculatus

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

dbEST--database for "expressed sequence tags"

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Progressive sequence alignment as a prerequisite to correct phylogenetic trees

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

A comprehensive set of sequence analysis programs for the VAX

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Murine and bovine blue cone pigment genes: cloning and characterization of two new members of the S family of visual pigments

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Molecular cloning and nucleotide sequence of DNA complementary to rat ribosomal protein S26 messenger RNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-236

7 January 2021

Identifiers

DOI

10.1038/NG0397-236

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9054934%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 November 2019

1025832061

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017