{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","description":"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.","keywords":[{"id":"https://openalex.org/keywords/genodermatoses","display_name":"genodermatosis","score":0.4668},{"id":"https://openalex.org/keywords/darier-disease","display_name":"Darier disease","score":0.6792},{"id":"https://openalex.org/keywords/genetic-skin-diseases","display_name":"hereditary skin disease","score":0.4065},{"id":"https://openalex.org/keywords/palmoplantar-keratoderma","display_name":"palmoplantar keratoderma","score":0.414},{"id":"https://openalex.org/keywords/incontinentia-pigmenti","display_name":"incontinentia pigmenti","score":0.7524},{"id":"https://openalex.org/keywords/blaschko-lines","display_name":"Blaschko lines","score":0.7264},{"id":"https://openalex.org/keywords/keratinization-disorders","display_name":"keratinization disorders","score":0.4286},{"id":"https://openalex.org/keywords/hailey-hailey-disease","display_name":"Hailey-Hailey disease","score":0.7547},{"id":"https://openalex.org/keywords/porokeratosis","display_name":"porokeratosis","score":0.8},{"id":"https://openalex.org/keywords/keratoderma","display_name":"keratoderma","score":0.5275},{"id":"https://openalex.org/keywords/ichthyosis","display_name":"ichthyosis","score":0.2182},{"id":"https://openalex.org/keywords/papillon-lefevre-syndrome","display_name":"Papillon-Lef\u00e8vre syndrome","score":0.6034},{"id":"https://openalex.org/keywords/congenital-skin-disorders","display_name":"congenital skin disorders","score":0.5018},{"id":"https://openalex.org/keywords/acantholysis","display_name":"acantholysis","score":0.2306},{"id":"https://openalex.org/keywords/lipoid-proteinosis","display_name":"lipoid proteinosis","score":0.7947},{"id":"https://openalex.org/keywords/epidermal-nevus","display_name":"epidermal nevus","score":0.6908},{"id":"https://openalex.org/keywords/congenital-ichthyosis","display_name":"congenital ichthyosis","score":0.3921},{"id":"https://openalex.org/keywords/congenital-skin-lesion","display_name":"congenital skin lesion","score":0.4189},{"id":"https://openalex.org/keywords/cornoid-lamella","display_name":"cornoid lamella","score":0.9269},{"id":"https://openalex.org/keywords/disseminated-superficial-actinic-porokeratosis","display_name":"disseminated superficial actinic porokeratosis","score":0.8628},{"id":"https://openalex.org/keywords/nevus-sebaceous","display_name":"sebaceous nevus","score":0.3376},{"id":"https://openalex.org/keywords/hypomelanosis-of-ito","display_name":"hypomelanosis of Ito","score":0.659},{"id":"https://openalex.org/keywords/focal-dermal-hypoplasia","display_name":"focal dermal hypoplasia","score":0.6595},{"id":"https://openalex.org/keywords/harlequin-ichthyosis","display_name":"harlequin ichthyosis","score":0.5258},{"id":"https://openalex.org/keywords/lichen-striatus","display_name":"lichen striatus","score":0.6163}],"legacy_keywords":"Genomic Rearrangement; Skin Diseases; NEMO Mutations; ATP2C1 Mutations; NF-?B Activation; Epidermal Nevus Syndromes; Segmental Manifestation; Calcium Pump Disorders; Incontinentia Pigmenti; Darier Disease","ids":{"openalex":"https://openalex.org/T12355","wikipedia":"https://en.wikipedia.org/wiki/Genomic_rearrangement_disorders_in_skin_diseases"},"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"},"siblings":[{"id":"https://openalex.org/T10012","display_name":"Genetic diversity and population structure"},{"id":"https://openalex.org/T10120","display_name":"Bacterial Genetics and Biotechnology"},{"id":"https://openalex.org/T10134","display_name":"Inflammatory Bowel Disease"},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology"},{"id":"https://openalex.org/T10594","display_name":"Genetic and phenotypic traits in livestock"},{"id":"https://openalex.org/T10613","display_name":"Virus-based gene therapy research"},{"id":"https://openalex.org/T10702","display_name":"Insect and Arachnid Ecology and Behavior"},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research"},{"id":"https://openalex.org/T10756","display_name":"Estrogen and related hormone effects"},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer"},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities"},{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders"},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities"},{"id":"https://openalex.org/T11214","display_name":"Human-Animal Interaction Studies"},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research"},{"id":"https://openalex.org/T11353","display_name":"Venomous Animal Envenomation and Studies"},{"id":"https://openalex.org/T11374","display_name":"Cleft Lip and Palate Research"},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases"},{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals"},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases"},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments"},{"id":"https://openalex.org/T11764","display_name":"Evolution and Genetic Dynamics"},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders"},{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting"},{"id":"https://openalex.org/T11968","display_name":"High Altitude and Hypoxia"},{"id":"https://openalex.org/T11974","display_name":"Lepidoptera: Biology and Taxonomy"},{"id":"https://openalex.org/T12232","display_name":"Yersinia bacterium, plague, ectoparasites research"},{"id":"https://openalex.org/T12370","display_name":"Advances in Cucurbitaceae Research"},{"id":"https://openalex.org/T12447","display_name":"Spider Taxonomy and Behavior Studies"},{"id":"https://openalex.org/T12749","display_name":"Race, Genetics, and Society"},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments"},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders"},{"id":"https://openalex.org/T12929","display_name":"Animal Genetics and Reproduction"},{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments"},{"id":"https://openalex.org/T13199","display_name":"Digestive system and related health"},{"id":"https://openalex.org/T13354","display_name":"Genetics and Physical Performance"},{"id":"https://openalex.org/T13664","display_name":"Genome Rearrangement Algorithms"},{"id":"https://openalex.org/T13984","display_name":"Nutrition, Genetics, and Disease"},{"id":"https://openalex.org/T14333","display_name":"Dermatoglyphics and Human Traits"}],"works_count":35243,"cited_by_count":283989,"works_api_url":"https://api.openalex.org/works?filter=topics.id:T12355","updated_date":"2026-10-20T03:01:21","created_date":"2024-01-23T15:27:14"}