Associated Papers
A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby.
Youness Z et al.
Case Reports in Dermatological Medicine, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.
Liang J et al.
Heliyon, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.
Wang H et al.
Frontiers in Genetics, 2024
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
Koprulu M et al.
European Journal of Human Genetics : Ejhg, 2022
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.
Pavlovsky M et al.
The British Journal of Dermatology, 2022
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L et al.
Clinical and Experimental Dermatology, 2021
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2021
[Genetic study of a Chinese pedigree affected with pachyonychia congenita].
Zhao F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.
Musumeci ML et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Keratin 17 in disease pathogenesis: from cancer to dermatoses.
Yang L et al.
The Journal of Pathology, 2019
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
Liu Q et al.
Molecular Medicine Reports, 2015
Gene expression profiling in pachyonychia congenita skin.
Cao YA et al.
Journal of Dermatological Science, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.
Ofaiche J et al.
The British Journal of Dermatology, 2014
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
Wilson NJ et al.
The British Journal of Dermatology, 2014
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2012
A large mutational study in pachyonychia congenita.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2011
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
Cogulu O et al.
European Journal of Pediatrics, 2009
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex.
Wang JF et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H et al.
Journal of Dermatological Science, 2007
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.
Oh SW et al.
The Journal of Dermatology, 2006
Clinical and pathological features of pachyonychia congenita.
Leachman SA et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
Uchida T et al.
Journal of Dermatological Science, 2005
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
He XH et al.
The British Journal of Dermatology, 2004
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.
Feng YG et al.
The British Journal of Dermatology, 2003
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
Hashiguchi T et al.
The Journal of Investigative Dermatology, 2002
[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].
Swensson O
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 1999
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Covello SP et al.
The British Journal of Dermatology, 1998
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case.
Fujimoto W et al.
Journal of the American Academy of Dermatology, 1998
Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization.
Bastian BC et al.
Cancer Research, 1998
Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
Wolter M et al.
Cancer Research, 1997
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
Smith FJ et al.
The Journal of Investigative Dermatology, 1997
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
Agarwala M et al.
Indian Journal of Dermatology, 0