About: Cloning and characterization of the human choroideremia gene

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scientific journal article

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rdf:type	Item
description	wissenschaftlicher Artikel (de) artículu científicu espublizáu en 1994 (ast) vědecký článek publikovaný v roce 1994 (cs) наукова стаття, опублікована в липні 1994 (uk) 1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած (hyw) 1994 թվականի հուլիսին հրատարակված գիտական հոդված (hy) مقالة علمية (نشرت في يوليو 1994) (ar) vedecký článok (publikovaný 1994/07/01) (sk) article scientifique publié en 1994 (fr) scientific journal article (en) wetenschappelijk artikel (gepubliceerd op 1994/07/01) (nl)
publication date	wds:Q28115927-D7A0D681-3C53-4016-9B8A-93516D2D13B6
publication date	1994-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28115927-45866353-6ABF-4EAC-9FCB-861E35BBA0EF
language of work or name	English
author name string	wds:Q28115927-006B4597-A4DF-4477-8625-4B58718356AF wds:Q28115927-01E2674C-0FB7-4E35-A8C6-351F141E283C wds:Q28115927-1A56E56C-17B1-45D0-9ECB-84BD898A39BB wds:Q28115927-8033FE6B-683A-4D96-8BC8-8B4AB7241E8D wds:Q28115927-88F88E51-B89E-400D-9FDD-48D474A8B2F5 wds:Q28115927-8DB11C7C-DD59-456B-AA19-0434BA9F4097 wds:Q28115927-97B74520-EAA5-4E60-851F-4FED003E53FC wds:Q28115927-E096DF7A-C7F4-4356-B149-1D28284C7D53
OpenCitations bibliographic resource ID	wds:Q28115927-E352F468-B7AF-4CDB-A86C-8EDD249A33FC
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/2981626
author name string	H. H. Ropers P. de Jong S. Gilgenkrantz C. Philippe H. van Bokhoven F. P. Cremers J. A. van den Hurk L. Bogerd
OpenCitations bibliographic resource ID	2981626
rdfs:label	Cloning and characterization of the human choroideremia gene (en) Cloning and characterization of the human choroideremia gene (nl) Cloning and characterization of the human choroideremia gene (ast)
skos:prefLabel	Cloning and characterization of the human choroideremia gene (en) Cloning and characterization of the human choroideremia gene (nl) Cloning and characterization of the human choroideremia gene (ast)
name	Cloning and characterization of the human choroideremia gene (en) Cloning and characterization of the human choroideremia gene (nl) Cloning and characterization of the human choroideremia gene (ast)
title	wds:Q28115927-4844ACD0-DC7F-4C12-B2FD-A4F02CBE251A
title	Cloning and characterization of the human choroideremia gene (en)
page(s)	wds:Q28115927-9C08798A-83B2-4936-92A5-B28ECE9A59AC
page(s)	1041–1046
instance of	wds:Q28115927-56966F7F-C643-49EF-A940-BCA5DE55A76F
instance of	scholarly article
PubMed ID	wds:Q28115927-E99A9A30-9A8D-4286-B1CD-270F80202973
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7981670
PubMed ID	7981670
published in	wds:Q28115927-1411DAE2-9EF2-4619-96D0-F29BD62A8509
published in	Human Molecular Genetics
issue	wds:Q28115927-0D9ABE83-197D-443D-8992-68F54E0E9F4B
volume	wds:Q28115927-1424701C-0BE9-4A8D-804A-539BC6FF8490
issue	7
volume	3
DOI	wds:Q28115927-51A177EE-A710-46B0-9532-87300A9BFBF6
DOI	http://dx.doi.org/10.1093/HMG/3.7.1041
DOI	10.1093/HMG/3.7.1041
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28115927
is cites work of	Structure and mutational analysis of Rab GDP-dissociation inhibitor Identification of genes causing photoreceptor degenerations leading to blindness Hermansky-Pudlak syndrome and related disorders of organelle formation Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Gene therapy for choroideremia using an adeno-associated viral (AAV) vector. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo Clinical diagnoses that overlap with choroideremia A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease Amino- and carboxy-terminal domains of the yeast Rab escort protein are both required for binding of Ypt small G proteins. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings A novel mutation (S558X) causing choroideremia Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues Choroideremia: a review of general findings and pathogenesis Choroideremia gene testing Choroideremia carriers maintain a normal electro-oculogram (EOG). Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Multimodal Imaging of Photoreceptor Structure in Choroideremia. Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT). Molecular genetic diagnostic techniques in choroideremia Clinical utility gene card for: choroideremia. Choroideremia: effect of age on visual acuity in patients and female carriers. Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss Mutation analysis in Canadian families with choroideremia. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy No missense mutation in choroideremia patients analyzed to date Identifying a novel role for X-prolyl aminopeptidase (Xpnpep) 2 in CrVI-induced adverse effects on germ cell nest breakdown and follicle development in rats Ocular gene therapy for choroideremia: clinical trials and future perspectives Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments Visual impairment and REP-1 gene mutations in Japanese choroideremia patients The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

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