ArticleThe British journal of dermatology2014
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Article in The British journal of dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02321423 (International Pachyonychia Congenita Research Registry), which is not on this map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
International Pachyonychia Congenita Research Registry
Who cites it
14 citing papers in PubMed, 70 citations in OpenAlex.
- Functional roles of Keratin 6A in disease pathogenesis across cancer and skin disorders.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby.Case reports in dermatological medicine · 2025Article
- [Syndroms associated with benign skin tumors].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Review
- A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.BMC medical genomics · 2021Article
- Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.Skin appendage disorders · 2021Article
- Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.Frontiers in chemistry · 2021Article
- Comparative iTRAQ proteomics revealed proteins associated with horn development in yak.Proteome science · 2018Article
- Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.The Journal of dermatology · 2017Article
- Proteomic profiling of Pachyonychia congenita plantar callus.Journal of proteomics · 2017Article
- Article
- Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.The Journal of investigative dermatology · 2016Article
- Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.Indian journal of dermatologyArticle
- Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.Case reports in dermatologyArticle
- Pachyonychia Congenita: Brief Appraisal of History and Current Classification.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
objectivesTo identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years.
methodsGenomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC-associated keratin genes and polymerase chain reaction products were directly sequenced.
resultsMutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105.
conclusionsBy identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families.
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