A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis (Q24322985)

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10 November 2019

title

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis (English)

1 reference

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Cystinosin, lysosomal cystine transporter

10 November 2019

main subject

1 reference

GOA release 2020-03-11

L-cystine transport

1 reference

GOA release 2020-03-11

membrane protein

1 reference

Abderhalden–Kaufmann–Lignac syndrome

inferred from title

1 reference

3

1 reference

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10 November 2019

Olivier Gribouval

8

1 reference

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10 November 2019

Gillian Bates

10

1 reference

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10 November 2019

Corinne Antignac

12

1 reference

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10 November 2019

author name string

Town M

1

1 reference

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10 November 2019

Jean G

2

1 reference

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10 November 2019

Attard M

4

1 reference

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10 November 2019

Forestier L

5

1 reference

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10 November 2019

Whitmore SA

6

1 reference

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10 November 2019

Callen DF

7

1 reference

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10 November 2019

Broyer M

9

1 reference

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10 November 2019

van't Hoff W

11

1 reference

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10 November 2019

language of work or name

English

0 references

publication date

1 April 1998

1 reference

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10 November 2019

1 reference

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10 November 2019

volume

18

1 reference

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10 November 2019

issue

4

1 reference

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10 November 2019

page(s)

319-324

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0498-319

10 November 2019

exact match

0 references

cites work

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

20 April 2017

1 reference

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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

20 April 2017

1 reference

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Basic local alignment search tool

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

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7 January 2021

Cloning OF P2X5 and P2X6 receptors and the distribution and properties of an extended family of ATP-gated ion channels

1 reference

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

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7 January 2021

ERS1 a seven transmembrane domain protein from Saccharomyces cerevisiae

1 reference

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7 January 2021

The detection and classification of membrane-spanning proteins.

1 reference

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7 January 2021

C-terminal Ser/Pro-Thr-Glu-Leu tetrapeptides of prostaglandin endoperoxide H synthases-1 and -2 target the enzymes to the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Intracellular trafficking of lysosomal membrane proteins.

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Topogenic signals in integral membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

The direct screening of cosmid libraries with YAC clones

1 reference

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7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

1 reference

https://api.crossref.org/works/10.1038%2FNG0498-319

7 January 2021

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

1 reference

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7 January 2021

Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector.

1 reference

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7 January 2021

The PROSITE database, its status in 1995.

1 reference

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7 January 2021

A knowledge base for predicting protein localization sites in eukaryotic cells

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0498-319

2 references

Consolidated OpenCitations Corpus – April 2017

1839282

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9537412%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 November 2019

1048797139

0 references

1839282

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1839282