About: A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

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scientific article (publication date: 2002)

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rdf:type	Item
description	artículu científicu espublizáu en 2002 (ast) vědecký článek publikovaný v roce 2002 (cs) vedecký článok (publikovaný 2002-01) (sk) wetenschappelijk artikel (gepubliceerd in 2002-01) (nl) 2002 թուականի Յունուարին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в січні 2002 (uk) مقالة علمية (نشرت عام 2002) (ar) 2002 թվականի հունվարին հրատարակված գիտական հոդված (hy) scientific article (publication date: 2002) (en) article scientifique publié en janvier 2002 (fr) im Januar 2002 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28202205-96542E15-8D1A-42B9-B754-6A044E881C70
publication date	2002-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28202205-6420A1AE-604A-4B1B-8B46-4FBEF138A32B
language of work or name	English
exact match	wds:Q28202205-49654A5E-E81D-49D8-8009-E1BAF627CA2D
exact match	https://scigraph.springernature.com/pub.10.1046/j.0022-202x.2001.01591.x
author name string	wds:Q28202205-1C7AEFE7-E1BE-4E2D-915D-4BA5D26F4B69 wds:Q28202205-36C61F71-9907-406E-804F-F029E73A6513 wds:Q28202205-7D1A2401-857F-41C2-841B-738303A8B7E6 wds:Q28202205-88547386-31CF-4E04-8BA5-C749E5C7D7D3 wds:Q28202205-9F83A629-613D-4BE7-AF38-7FE0E1575D04 wds:Q28202205-A2A653D6-4CEE-4237-A661-ABB202155140 wds:Q28202205-EFFB4500-E8F5-4C0D-BA7D-3B1F530C4ED5
OpenCitations bibliographic resource ID	wds:Q28202205-B11B0F7F-611C-4D01-975A-4010D2281B5E
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/1909146
author name string	Bjørnar Olaisen Bjørn Høyheim Frode L Jahnsen Ingrun Anton-Lamprecht Aud Gjesti Dörte Koss-Harnes Randi S Jørgensen
OpenCitations bibliographic resource ID	1909146
rdfs:label	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (en) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (nl) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (ast)
skos:prefLabel	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (en) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (nl) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (ast)
name	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (en) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (nl) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (ast)
author	wds:Q28202205-29C5292A-70EB-4DE1-8CCB-F74D2B2F09B2 wds:Q28202205-4AF4294E-8584-463F-AA51-87F8920DF556
author	Gerhard Wiche Tobias Gedde-Dahl
title	wds:Q28202205-9F55D240-0CE6-4A81-890C-842435E1BCE8
title	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations (en)
page(s)	wds:Q28202205-A6703D50-0359-4A21-BA9A-DA3772BA3D6E
page(s)	87-93
instance of	wds:Q28202205-C5BD5D12-8157-452B-B4A8-723117EEA126
instance of	scholarly article
main subject	wds:Q28202205-4FBBABB6-0CBC-4D05-BEC4-64692CFA0ECB
main subject	epidermolysis bullosa simplex
PubMed ID	wds:Q28202205-356DF307-8DE8-43C1-8EB2-C669E19FA06E
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11851880
PubMed ID	11851880
published in	wds:Q28202205-D60252D7-471B-48F9-B7CB-C250D40C4A81
published in	Journal of Investigative Dermatology
issue	wds:Q28202205-D119AA2D-CE1E-4E42-AA4D-0E8329674A72
volume	wds:Q28202205-0A528FE3-6F5C-4746-A244-CA742973A1BF
issue	1
volume	118
DOI	wds:Q28202205-AF910724-B961-4967-B459-90D5AFF0F518
DOI	http://dx.doi.org/10.1046/J.0022-202X.2001.01591.X
DOI	10.1046/J.0022-202X.2001.01591.X
ResearchGate publication ID	wds:Q28202205-FE523E3B-8392-4220-910B-C6BE1FB657B6
ResearchGate publication ID	11509373
Dimensions Publication ID	wds:Q28202205-BD5AD2E9-4D3E-40FD-B137-DA3224F46EE7
Dimensions Publication ID	1003236016
is owl:sameAs of	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28202205
is cites work of	Plakins: goliaths that link cell junctions and the cytoskeleton Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations Progress in epidermolysis bullosa: genetic classification and clinical implications Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve Costamere proteins and their involvement in myopathic processes. Targeted ablation of plectin isoform 1 uncovers role of cytolinker proteins in leukocyte recruitment Epidermolysis bullosa in animals: a review Diseases of epidermal keratins and their linker proteins Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells Inherited epidermolysis bullosa Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. Keratins and skin disorders Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna The many faces of plectin and plectinopathies: pathology and mechanisms Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants Advances in inherited epidermolysis bullosa Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases Molecular architecture and function of the hemidesmosome Plectin isoform-dependent regulation of keratin-integrin alpha6beta4 anchorage via Ca2+/calmodulin Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1) Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity Molecular architecture and function of the hemidesmosome Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.

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