|1.||Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
|2.||Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
|3.||Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)
|4.||Ichthyosis Bullosa of Siemens
|1.||Chen, Xiao-Ling: 3 articles (04/2012 - 05/2009)|
|2.||Zhang, Xian-Ning: 3 articles (04/2012 - 05/2009)|
|3.||Zhang, X-N: 3 articles (09/2009 - 04/2004)|
|4.||Jiang, Miao: 2 articles (02/2014 - 07/2008)|
|5.||Sprecher, E: 2 articles (03/2013 - 01/2013)|
|6.||Lu, Jia-Jun: 2 articles (04/2012 - 09/2011)|
|7.||Liu, Wen-Ting: 2 articles (04/2012 - 09/2011)|
|8.||Xu, Chen-Ming: 2 articles (09/2011 - 05/2009)|
|9.||Chen, Chun-Yue: 2 articles (09/2011 - 05/2009)|
|10.||Christiano, A M: 2 articles (10/2010 - 05/2000)|
|1.||Type I Keratins (Type I Keratin)IBA
10/01/1994 - "The palmoplantar keratoderma variant investigated in this study is thus genetically different from epidermolytic palmoplantar keratoderma, which recently has been shown to result from mutations in the gene for the type I keratin 9."
11/01/1999 - "Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. "
03/01/1995 - "The disease has been mapped to chromosome 17q11-q23 in the region of the type 1 keratin gene locus and more recently mutations have been found in the palmoplantar specific keratin, keratin 9. We have analyzed six unrelated incidences of epidermolytic palmoplantar keratoderma for mutations in their keratin 9 genes. "
|2.||Keratin-9 (Keratin 9)IBA
08/01/2014 - "A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review."
02/01/2014 - "[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma]."
01/01/2014 - "Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9."
06/01/2012 - "[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]."
09/01/2011 - "A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly."
11/01/2004 - "Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma."
08/01/2004 - "In this article we reviewed the current researches on the molecular basis of epidermolytic palmoplantar keratoderma (EPPK) and the structure and function of the keratins with mutations that can cause inherited keratin disorders. "
12/01/1998 - "Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland."
09/01/1992 - "Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21."
03/01/2009 - "Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. "
06/01/2004 - "Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene."
04/01/2001 - "Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds."
04/01/2012 - "Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1). "
03/01/2006 - "Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin."
|5.||Type II Keratins (Type II Keratin)IBA
10/01/1999 - "Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins."
12/01/1994 - "Mutations in type I and type II keratin genes have now been implicated in three different human genetic disorders, epidermolysis bullosa simplex, epidermolytic hyperkeratosis, and epidermolytic palmoplantar keratoderma. "
|6.||RNA Splice SitesIBA
|7.||Leucine (L-Leucine)FDA Link
|9.||Hyperkeratosis of the palms and soles and esophageal papillomasIBA
05/01/1999 - "At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. "
|10.||Mal de MeledaIBA