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    KRT9 keratin 9 [ Homo sapiens (human) ]

    Gene ID: 3857, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous cell carcinoma.

    Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous cell carcinoma.
    Woods RSR, Callanan D, Jawad H, Molony P, Werner R, Heffron C, Feeley L, Sheahan P.

    03/12/2022
    KRT9 L164P mutation is associated with epidermolytic palmoplantar keratoderma.

    Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.
    Liu X, Qiu C, He R, Zhang Y, Zhao Y., Free PMC Article

    07/4/2020
    Exogenous dsRNA inhibits KRT9 expression in early passage volar keratinocytes or in vivo footpads of wild-type mice. Loss of DDX58 in passaged volar keratinocytes rescues KRT9 and inhibits KRT7 expression.

    dsRNA Sensing Induces Loss of Cell Identity.
    Zhou R, Wang G, Kim D, Kim S, Islam N, Chen R, Wang Z, Li A, McCarthy EF, Li L, Hu Z, Garza LA., Free PMC Article

    11/2/2019
    Study identified a novel L164P mutation responsible for epidermolytic palmoplantar keratoderma (EPPK) in a large Chinese family and three recurrent mutations in another three Chinese families with EPPK. All these mutations are located in the highly conserved 1A rod domain of keratin 9.

    Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.
    Mao B, Zhang J, You Y, Xiao J, Zhao X.

    08/31/2019
    keratin 9 is an Hsp70 client protein and is expressed in human bladder cancer cells.

    Drug-induced keratin 9 interaction with Hsp70 in bladder cancer cells.
    Andolino C, Hess C, Prince T, Williams H, Chernin M., Free PMC Article

    05/25/2019
    A novel heterozygous c.1369C>T transition (p.Leu457Phe) in exon 6 of the KRT9 gene was identified in four patients in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

    Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
    Xiao H, Guo Y, Yi J, Xia H, Xu H, Yuan L, Hu P, Yang Z, He Z, Lu H, Deng H.

    08/4/2018
    During analyzing the sequences of KRT9 gene of a epidermolytic palmoplantar keratoderma (EPPK) pedigree, we found a new heterozygous missense mutation (488G>T) of exon 1 of KRT9 gene, which has not been reported before and does not exist in healthy individuals of the family and 100 unrelated individuals.

    A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
    Chen N, Sun J, Song Y, Wei X, Shi Y, Zhang L.

    05/26/2018
    Results identified the missense mutation KRT9 c.487C>T, as a potential causative mutation in the large Uygur family with epidermolytic palmoplantar keratoderma.

    Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
    Wang P, Kang XJ, Tang XH, Liu JY, Li WZ, Wang WJ, Liang SN, Feng YY, Ding Y, Chen WJ.

    05/27/2017
    KRT9 expression is significantly downregulated in human masticatory mucosa during wound healing

    Human gingiva transcriptome during wound healing.
    Wang Y, Tatakis DN.

    03/22/2017
    Findings suggest that dysregulated Keratin 9 expression is a consequence of Alzheimer's disease (AD).

    Rationalising the role of Keratin 9 as a biomarker for Alzheimer's disease.
    Richens JL, Spencer HL, Butler M, Cantlay F, Vere KA, Bajaj N, Morgan K, O'Shea P., Free PMC Article

    01/28/2017
    Mutational analysis revealed a T to G transition in the coding DNA sequence, designated as c.470T>G (p.Met157Arg), a missense mutation in exon 1 of KRT9 in the proband and her brother, but not in unrelated healthy controls.

    A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.
    Liang YH, Liu QX, Huang L, Zeng K.

    04/18/2015
    KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
    Ke HP, Jiang HL, Lv YS, Huang YZ, Liu RR, Chen XL, Du ZF, Luo YQ, Xu CM, Fan QH, Zhang XN.

    08/16/2014
    A heterozygous missense mutation c.482A to G in the KRT9 gene.

    [Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].
    Liu N, Shi H, Kong X, Wu Q, Jiang M.

    03/29/2014
    Our findings indicate that knuckle pads can be associated with epidermolytic palmoplantar keratoderma and the R163W mutation in a family with a genetic background different from that described here.

    Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
    Lopez-Valdez J, Rivera-Vega MR, Gonzalez-Huerta LM, Cazarin J, Cuevas-Covarrubias S.

    01/18/2014
    We identified a novel Eidermolytic Palmoplantar Keratoderma-causing mutation located in a region of the KRT9 gene, encoding a poorly conserved region of the protein that is not routinely screened for diagnostic purposes.

    Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
    Fuchs-Telem D, Padalon-Brauch G, Sarig O, Sprecher E.

    07/20/2013
    Data indicate that the node tumour burden could be accurately quantified based on the cytokeratin 19 (CK19) mRNA copy number.

    Sentinel node tumour burden quantified based on cytokeratin 19 mRNA copy number predicts non-sentinel node metastases in breast cancer: molecular whole-node analysis of all removed nodes.
    Osako T, Iwase T, Kimura K, Horii R, Akiyama F.

    06/1/2013
    A heterozygous transversional mutation, 488G-->A, was identified in exon 1 of KRT9 gene in all patients.

    [Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].
    Li YL, Li NN, Wang YP, Li MR, Dai L, Deng Y, Liu Z, Mu DZ, Zhu J.

    09/15/2012
    A substitution in arginine alters the charge and shape of KRT9 rod domain, disrupting the function of the helix initiation motif of keratins and compromising the integrity of filaments and weakening their stability in the epidermis of palms and soles.

    The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
    Liu WT, Ke HP, Zhao Y, Chen XL, Lu JJ, Du ZF, Yu D, Zhang XN.

    08/4/2012
    KRT9 may play a complicated role in the genesis of epidermolytic palmoplantar keratoderma with knuckle pads and camptodactyly.

    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.
    Du ZF, Wei W, Wang YF, Chen XL, Chen CY, Liu WT, Lu JJ, Mao LG, Xu CM, Fang H, Zhang XN.

    01/21/2012
    Study provides evidence that epidermolytic palmoplantar keratoderma in a large Chinese family may result from a novel duplication mutation (c.495_503dupCTCTTACTT) in the 1A rod domain of KRT9.

    Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma.
    Zeng YP, Chai WX, Fang K, Wang BX, Zuo YG.

    07/23/2011
    identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification

    mRNA-based skin identification for forensic applications.
    Visser M, Zubakov D, Ballantyne KN, Kayser M., Free PMC Article

    07/2/2011
    A c.T1206C substitution in the 2B domain of KRT 9 was identified.

    A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.
    Wang K, He CD, Song F, Liu J, Chen HD.

    02/26/2011
    The affected members of all five families possess mutations in the KRT9 gene that severely affect heterodimer formation with the type II keratin partner.

    Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
    Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM., Free PMC Article

    10/30/2010
    Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene.

    Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.
    Chen XL, Xu CM, Cai SR, Chen CY, Zhang XN.

    01/21/2010
    The genomic DNA from the patient's peripheral blood showed an R162W mutation in the keratin 9 gene. We therefore diagnosed the patient with Vorner type EPPK.

    Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes.
    Funakushi N, Mayuzumi N, Sugimura R, Ikeda S.

    01/21/2010
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