Associated Papers
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
Koprulu M et al.
European Journal of Human Genetics : Ejhg, 2022
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
Wu TT et al.
The Journal of Investigative Dermatology, 2021
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Keratin 17 in disease pathogenesis: from cancer to dermatoses.
Yang L et al.
The Journal of Pathology, 2019
Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene.
Kim JY et al.
Annals of Dermatology, 2018
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
A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family.
Wang J et al.
Clinical and Experimental Dermatology, 2018
Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome.
Mohanasundaram KA et al.
Human Mutation, 2017
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
Liu Q et al.
Molecular Medicine Reports, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
"IF-pathies": a broad spectrum of intermediate filament-associated diseases.
Omary MB
The Journal of Clinical Investigation, 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.
Nishizawa A et al.
The British Journal of Dermatology, 2008
A novel mutation in K6b in pachyonychia congenita type 2.
Sharma VM et al.
The Journal of Investigative Dermatology, 2007
Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease.
Tao GZ et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2007
Insights into the beaded filament of the eye lens.
Perng MD et al.
Experimental Cell Research, 2007
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 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
Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
Ward KM et al.
Clinical and Experimental 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
'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments.
Coulombe PA et al.
Current Opinion in Cell Biology, 2002
[Keratin 17 gene mutation in patients with steatocystoma multiplex].
Wang X et al.
Zhonghua Yi Xue Za Zhi, 2001
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
Smith FJ et al.
Experimental Dermatology, 2000
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
Celebi JT et al.
The Journal of Investigative Dermatology, 1999
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Covello SP et al.
The British Journal 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
[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].
Cammarata-Scalisi F et al.
Gaceta Medica De Mexico, 0