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    KRT1 keratin 1 [ Homo sapiens (human) ]

    Gene ID: 3848, updated on 28-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.

    Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
    Siew ZY, Tan YF, Iswara RP, Wong SF, Wong ST, Tan BK, Leong PP, Tan CW, Wang LF, Leong CO, Voon K.

    02/23/2024
    Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.

    Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.
    Cheng CW, Fang WF, Lin JD., Free PMC Article

    12/4/2023
    Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.

    Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
    Kim T, Kim SC, Lee SE.

    11/20/2023
    The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.

    The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.
    Winkler R, Quaas M, Glasmacher S, Wolfrum U, Thalheim T, Galle J, Krohn K, Magin TM, Aust G., Free PMC Article

    10/22/2022
    Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.

    Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.

    09/24/2022
    Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

    Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
    Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G., Free PMC Article

    08/27/2022
    Keratin 1 as a cell-surface receptor in cancer.

    Keratin 1 as a cell-surface receptor in cancer.
    Ogunnigbagbe O, Bunick CG, Kaur K., Free PMC Article

    07/23/2022
    Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.

    Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
    Huang TL, Chou CC.

    06/25/2022
    Keratin 1 maintains the intestinal barrier in ulcerative colitis.

    Keratin 1 maintains the intestinal barrier in ulcerative colitis.
    Wu J, Niu J, Li M, Miao Y.

    03/19/2022
    Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.

    Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
    Chia SY, Tan EC, Wei H, Zhao Y, Koh MJA.

    01/15/2022
    Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing.

    Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing.
    Takeuchi S, Takeichi T, Ito Y, Tanahashi K, Muro Y, Ogi T, Akiyama M.

    12/11/2021
    Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

    Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
    Caporali S, Didona B, Paradisi M, Mauriello A, Campione E, Falconi M, Iacovelli F, Minieri M, Pieri M, Bernardini S, Terrinoni A., Free PMC Article

    07/31/2021
    Serum proteomic analysis of major depressive disorder patients and their remission status: Novel biomarker set of zinc-alpha-2-glycoprotein and keratin type II cytoskeletal 1.

    Serum proteomic analysis of major depressive disorder patients and their remission status: Novel biomarker set of zinc-alpha-2-glycoprotein and keratin type II cytoskeletal 1.
    Choi H, Mun S, Joo EJ, Lee KY, Kang HG, Lee J.

    07/31/2021
    Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.

    Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
    Liang B, Yuan T, Zhou Y, Ding Y, Tang L, Wang F, Wang P, Li H, Zhang Y, Zhu M, Ji Y, Hong X, Zhang X, Zhu Q.

    05/8/2021
    Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.

    Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.
    Aldehlawi H, Usman S, Lalli A, Ahmad F, Williams G, Teh MT, Waseem A., Free PMC Article

    12/12/2020
    CK-1 SNP and high protein expression levels are associated with vocal leukoplakia and LSCC and promote the transformation from vocal leukoplakia to LSCC in a Chinese Han population.

    Significance of Cytokeratin-1 Single-Nucleotide Polymorphism and Protein Level in Susceptibility to Vocal Leukoplakia and Laryngeal Squamous Cell Carcinoma.
    Yang Y, Zhou J, Wu H.

    05/2/2020
    The Keratin 1-keratin 10-1B knob/pocket mechanism is conserved across keratins and many non-keratin intermediate filaments.Light scattering and circular dichroism measurements demonstrated enhanced aggregation of K1(S233L)/K10-1B in solution without affecting secondary structure. The K1(S233L)/K10-1B octamer structure revealed S233L(K1) causes aberrant hydrophobic interactions between 1B tetramers.

    Human keratin 1/10-1B tetramer structures reveal a knob-pocket mechanism in intermediate filament assembly.
    Eldirany SA, Ho M, Hinbest AJ, Lomakin IB, Bunick CG., Free PMC Article

    01/11/2020
    Study reports four unrelated cases (one with sporadic epidermolytic ichthyosis and three with autosomal dominant palmoplantar keratoderma), due to two novel and two recurrent KRT1 mutations. Mutations in KRT1 are not only scattered throughout the keratin 1 protein, as opposed to being clustered, but can result in a range of phenotypes as further confirmed by these mutations, giving a complex genotype/phenotype pattern.

    Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M., Free PMC Article

    12/28/2019
    A colon score derived from serum CEA, CA19-9, CK1 and MUC1 is a potential valuable non-invasive index that could be used for detection and screening early stage colon cancer patients

    Clinical value of a diagnostic score for colon cancer based on serum CEA, CA19-9, cytokeratin-1 and mucin-1.
    Attallah AM, El-Far M, Ibrahim AR, El-Desouky MA, Omran MM, Elbendary MS, Attallah KA, Qura ER, Abdallah SO.

    08/3/2019
    PAWS1 interacts and co-localises with the alpha isoform of casein kinase 1 (CK1), and that PAWS1 mutations incapable of binding CK1 fail both to activate Wnt signalling and to elicit axis duplication in Xenopus embryos.

    PAWS1 controls Wnt signalling through association with casein kinase 1α.
    Bozatzi P, Dingwell KS, Wu KZ, Cooper F, Cummins TD, Hutchinson LD, Vogt J, Wood NT, Macartney TJ, Varghese J, Gourlay R, Campbell DG, Smith JC, Sapkota GP., Free PMC Article

    02/16/2019
    Results showed identical expression pattern for KRT1 and KRT10, their expression was higher in pediatric cases than in adults, especially in pediatric recurrent samples.

    Analysis of KRT1, KRT10, KRT19, TP53 and MMP9 expression in pediatric and adult cholesteatoma.
    Palkó E, Póliska S, Sziklai I, Penyige A., Free PMC Article

    01/26/2019
    The authors report a large Italian family affected Palmoplantar Keratoderma and Charcot Marie Tooth disease. Two different mutated genes, KRT1 and MPZ were responsible for the two main clinical signs. Exome analysis detected two missense mutations, one in KRT1 and one in MPZ.

    Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
    Gagliardi S, Ricca I, Ferrarini A, Valente M, Grieco GS, Piccolo G, Alfonsi E, Delledonne M, Cereda C.

    08/4/2018
    Results show that missense mutations exert dominant negative effects on the keratins K1/K10 protein structure by altering inter-chain interactions.

    In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.
    Banerjee S, Wu Q, Ying Y, Li Y, Shirota M, Neculai D, Li C., Free PMC Article

    02/3/2018
    KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc

    Polymorphism of keratin 1 associates with systemic lupus erythematosus and systemic sclerosis in a south Chinese population.
    Luo W, Zhou B, Luo Q, Fang H, Zuo X, Zou Y., Free PMC Article

    10/28/2017
    Case Report: post-zygotic mosaicism of KRT/1o mutations in epidermolytic Ichthyosis.

    Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
    Severino-Freire M, Jonca N, Pichery M, Tournier E, Chassaing N, Mazereeuw-Hautier J.

    03/25/2017
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