(Q50856170)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

title

Single-base substitutions in the CHM promoter as a cause of choroideremia (English)

1 reference

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5 April 2020

4

1 reference

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5 April 2020

Emma Baple

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

author name string

Alina Radziwon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Gavin Arno

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Dianna K Wheaton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Kaylie Webb-Jones

6

1 reference

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5 April 2020

David G Birch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Andrew R Webster

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

Ian M MacDonald

9

1 reference

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5 April 2020

publication date

24 March 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

volume

38

1 reference

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5 April 2020

issue

6

1 reference

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5 April 2020

page(s)

704-715

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

5 April 2020

cites work

1 reference

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ZNF143 provides sequence specificity to secure chromatin interactions at gene promoters

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Aligning multiple genomic sequences with the threaded blockset aligner

21 January 2018

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

21 January 2018

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Copy number variant analysis in CHM to detect duplications underlying choroideremia

21 January 2018

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Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

21 January 2018

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Choroideremia: a review of general findings and pathogenesis

21 January 2018

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Cloning of a gene that is rearranged in patients with choroideraemia

21 January 2018

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21 January 2018

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

21 January 2018

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Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells

21 January 2018

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Management of gene promoter mutations in molecular diagnostics

21 January 2018

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21 January 2018

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Pathogenic mechanisms and the prospect of gene therapy for choroideremia.

21 January 2018

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21 January 2018

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LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

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Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

21 January 2018

1 reference

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Rab GTPase prenylation hierarchy and its potential role in choroideremia disease

21 January 2018

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The UCSC genome browser database: update 2007.

21 January 2018

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A practical diagnostic test for choroideremia

21 January 2018

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Transcriptional Regulatory Elements in the Human Genome

21 January 2018

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Mutational analysis of patients with the diagnosis of choroideremia

21 January 2018

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Clinical utility gene card for: choroideremia.

21 January 2018

1 reference

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A genome scale location analysis of human Staf/ZNF143-binding sites suggests a widespread role for human Staf/ZNF143 in mammalian promoters

21 January 2018

1 reference

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ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf

21 January 2018

1 reference

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Modulation of gene expression via overlapping binding sites exerted by ZNF143, Notch1 and THAP11

21 January 2018

1 reference

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Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

21 January 2018

1 reference

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Abundant raw material for cis-regulatory evolution in humans

21 January 2018

1 reference

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Staf, a promiscuous activator for enhanced transcription by RNA polymerases II and III

21 January 2018

1 reference

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23212

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23212

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

1 reference

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The functional effect of pathogenic mutations in Rab escort protein 1.

21 January 2018

1 reference

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dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

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The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

21 January 2018

1 reference

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

1 reference

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Cloning and characterization of the human choroideremia gene

21 January 2018

1 reference

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Genomic Determinants of THAP11/ZNF143/HCFC1 Complex Recruitment to Chromatin

21 January 2018

1 reference

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Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23212

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.23212

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28271586%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

1 reference