DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness (Q22010834)

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2 November 2019

title

DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10571079%20AND%20SRC:MED&resulttype=core&format=json

Secretion regulating guanine nucleotide exchange factor

2 November 2019

main subject

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signal transduction

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RAN guanine nucleotide release factor

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Secretion regulating guanine nucleotide exchange factor

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1 reference

2

S Wiemann

S

Wiemann

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10571079%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J Uhlmann

1

J

Uhlmann

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2 November 2019

H Ponstingl

series ordinal

3

author given names

H

author last names

Ponstingl

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2 November 2019

language of work or name

English

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publication date

1 October 1999

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2 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10571079%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

460

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2 November 2019

issue

1

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2 November 2019

page(s)

153-160

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Premature of chromosome condensation in a ts DNA- mutant of BHK cells.

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Export of importin alpha from the nucleus is mediated by a specific nuclear transport factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Clinical variability and genetic heterogeneity within the Acadian Usher population

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Localization of two genes for Usher syndrome type I to chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Contig maps and genomic sequencing identify candidate genes in the usher 1C locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Conserved histidine residues of RCC1 are essential for nucleotide exchange on Ran.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Model of the ran-RCC1 interaction using biochemical and docking experiments

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

Identification of a Saccharomyces cerevisiae homolog of the SNF2 transcriptional regulator in the DNA sequence of an 8.6 kb region in the LTE1-CYS1 interval on the left arm of chromosome I

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2901333-2

10.1016/S0014-5793(99)01333-2

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10571079%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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