https://openalex.org/T12355
This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders.
@prefix oasubfields: <https://openalex.org/subfields/> .
@prefix openalex: <https://lambdamusic.github.io/openalex-hacks/ontology/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
<https://openalex.org/T12355> a skos:Concept ;
rdfs:label "Genomic Rearrangement Disorders in Skin Diseases"@en ;
rdfs:isDefinedBy openalex: ;
owl:sameAs <https://en.wikipedia.org/wiki/Genomic_rearrangement_disorders_in_skin_diseases>,
<https://openalex.org/T12355> ;
skos:broader oasubfields:1311 ;
skos:definition "This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders."@en ;
skos:inScheme openalex: ;
skos:prefLabel "Genomic Rearrangement Disorders in Skin Diseases"@en ;
openalex:cited_by_count 210933 ;
openalex:works_count 29673 .