# Genetic and rare skin diseases.

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genetic-and-rare-skin-diseases-2/

## Facts

| Field | Value |
| --- | --- |
| Citations | 230,264 |
| 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. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | https://openalex.org/T12355 |
| Works | 38,048 |

## Topic researchers

Showing 12 of 20.

- [Jun Wang](https://scholariq.org/researchers/jun-wang-11/)
- [Huanming Yang](https://scholariq.org/researchers/huanming-yang/)
- [Kāri Stefánsson](https://scholariq.org/researchers/kari-stefansson/)
- [Michael O‘Donovan](https://scholariq.org/researchers/michael-o-donovan/)
- [Robert J. Lefkowitz](https://scholariq.org/researchers/robert-j-lefkowitz/)
- [Unnur Þorsteinsdóttir](https://scholariq.org/researchers/unnur-orsteinsdottir/)
- [Stuart L. Schreiber](https://scholariq.org/researchers/stuart-l-schreiber/)
- [Alexander J. Lazar](https://scholariq.org/researchers/alexander-j-lazar/)
- [Meletios Α. Dimopoulos](https://scholariq.org/researchers/meletios-dimopoulos/)
- [Josep Tabernero](https://scholariq.org/researchers/josep-tabernero/)
- [Hywel C Williams](https://scholariq.org/researchers/hywel-c-williams/)
- [Guðmar Þorleifsson](https://scholariq.org/researchers/gu-mar-orleifsson/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.