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Index > Protein center > KRT1(Gene name) > Human
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  • KRT1 (Gene name),
  • Keratin, type II cytoskeletal 1 (Protein name ),  K2C1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    KRT1(KRTA);
    Protein name:
    Keratin, type II cytoskeletal 1;
    Alternative:
    Cytokeratin-1(CK-1);67 kDa cytokeratin;Keratin-1(K1);Hair alpha protein;Type-II keratin Kb1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10. Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1.
    Function:
    May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1).
    Subcellular Location:
    Cell membrane Located on plasma membrane of neuroblastoma NMB7 cells.
    Protein Attributes:
    Sequence length:
    644
    Sequence:
    50:
    MSRQFSSRSG | YRSGGGFSSG | SAGIINYQRR | TTSSSTRRSG | GGGGRFSSCG | 
    100:
    GGGGSFGAGG | GFGSRSLVNL | GGSKSISISV | ARGGGRGSGF | GGGYGGGGFG | 
    150:
    GGGFGGGGFG | GGGIGGGGFG | GFGSGGGGFG | GGGFGGGGYG | GGYGPVCPPG | 
    200:
    GIQEVTINQS | LLQPLNVEID | PEIQKVKSRE | REQIKSLNNQ | FASFIDKVRF | 
    250:
    LEQQNQVLQT | KWELLQQVDT | STRTHNLEPY | FESFINNLRR | RVDQLKSDQS | 
    300:
    RLDSELKNMQ | DMVEDYRNKY | EDEINKRTNA | ENEFVTIKKD | VDGAYMTKVD | 
    350:
    LQAKLDNLQQ | EIDFLTALYQ | AELSQMQTQI | SETNVILSMD | NNRSLDLDSI | 
    400:
    IAEVKAQYED | IAQKSKAEAE | SLYQSKYEEL | QITAGRHGDS | VRNSKIEISE | 
    450:
    LNRVIQRLRS | EIDNVKKQIS | NLQQSISDAE | QRGENALKDA | KNKLNDLEDA | 
    500:
    LQQAKEDLAR | LLRDYQELMN | TKLALDLEIA | TYRTLLEGEE | SRMSGECAPN | 
    550:
    VSVSVSTSHT | TISGGGSRGG | GGGGYGSGGS | SYGSGGGSYG | SGGGGGGGRG | 
    600:
    SYGSGGSSYG | SGGGSYGSGG | GGGGHGSYGS | GSSSGGYRGG | SGGGGGGSSG | 
    644:
    GRGSGGGSSG | GSIGGRGSSS | GGVKSSGGSS | SVKFVSTTYS | GVTR
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    SMR:
    KEGG:
    Pfam:
    String:
    UniGene:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human Keratin, type II cytoskeletal 1
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    ELISA Kit for Human Keratin, type II cytoskeletal 1
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    ELISA Kit for Human Keratin, type II cytoskeletal 1
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    ELISA Kit for Human Keratin, type II cytoskeletal 1
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    CLIA Kit for Human Keratin, type II cytoskeletal 1
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    CLIA Kit for Human Keratin, type II cytoskeletal 1
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    CLIA Kit for Human Keratin, type II cytoskeletal 1
    Cat.:
    U2282h
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    MSDS:
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    CLIA Kit for Human Keratin, type II cytoskeletal 1
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    Packing:
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    Polyclonal Antibody for Human Keratin, type II cytoskeletal 1
    Polyclonal Antibody for Human Keratin, type II cytoskeletal 1
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    P2282Rb-r
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    Packing:
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    Polyclonal Antibody for Human Keratin, type II cytoskeletal 1
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    Polyclonal Antibody for Human Keratin, type II cytoskeletal 1
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    Packing:
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    Monoclonal Antibody for Human Keratin, type II cytoskeletal 1
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 1
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 1
    Monoclonal Antibody for Human Keratin, type II cytoskeletal 1
    Protein for Human Keratin, type II cytoskeletal 1
    Protein for Human Keratin, type II cytoskeletal 1
    Protein for Human Keratin, type II cytoskeletal 1
    Protein for Human Keratin, type II cytoskeletal 1

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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS ASN-358 AND ARG-633
    2. 2.
      "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5."
      Whittock N.V. , Eady R.A.J. , McGrath J.A.
      Biochem. Biophys. Res. Commun.274:149-152(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS ASN-358 AND ARG-633
    3. 3.
      "Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds."
      Hatsell S.J. , Eady R.A.J. , Wennerstrand L. , Dopping-Hepenstal P.J. , Leigh I.M. , Munro C. , Kelsell D.P.
      J. Invest. Dermatol.116:606-609(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];INVOLVEMENT IN NEPPK;VARIANT ARG-633
    4. 4.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Tongue.
    5. 5.
      "The finished DNA sequence of human chromosome 12."
      Scherer S.E. , Muzny D.M. , Buhay C.J. , Chen R. , Cree A. , Ding Y. , Dugan-Rocha S. , Gill R. , Gunaratne P. , Harris R.A. , Hawes A.C. , Hernandez J. , Hodgson A.V. , Hume J. , Jackson A. , Khan Z.M. , Kovar-Smith C. , Lewis L.R. , more...
      Nature440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT ARG-633
      tissue: Skin.
    7. 7.
      "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K. , Goethals M. , Martens L. , Van Damme J. , Staes A. , Thomas G.R. , Vandekerckhove J.
      Nat. Biotechnol.21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-8
      tissue: Platelet.
    8. 8.
      Bienvenut W.V. , Lilla S. , von Kriegsheim A. , Lempens A. , Kolch W.
      Submitted (2008-12) to the UniProtKB
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 13-30; 66-82; 186-240; 258-276; 278-298; 344-355; 365-386; 396-403; 408-416; 418-432; 442-455 AND 461-588;METHYLATION AT ARG-82 AND LYS-276;IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Ovarian carcinoma.
    9. 9.
      "Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits."
      Steinert P.M. , Parry D.A.D. , Idler W.W. , Johnson L.D. , Steven A.C. , Roop D.R.
      J. Biol. Chem.260:7142-7149(1985) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 152-644;VARIANTS CYS-537 AND ARG-633
    10. 10.
      Lubec G. , Chen W.-Q. , Sun Y.
      Submitted (2008-12) to the UniProtKB
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 377-386;IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Fetal brain cortex.
    11. 11.
      "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis."
      Senshu T. , Kan S. , Ogawa H. , Manabe M. , Asaga H.
      Biochem. Biophys. Res. Commun.225:712-719(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CITRULLINATION
    12. 12.
      "Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix."
      Sprecher E. , Ishida-Yamamoto A. , Becker O.M. , Marekov L.N. , Miller C.J. , Steinert P.M. , Neldner K. , Richard G.
      J. Invest. Dermatol.116:511-519(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN IHCM
    13. 13.
      "Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination."
      Ishida-Yamamoto A. , Senshu T. , Eady R.A.J. , Takahashi H. , Shimizu H. , Akiyama M. , Iizuka H.
      J. Invest. Dermatol.118:282-287(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CITRULLINATION
    14. 14.
      "Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma."
      Whittock N.V. , Smith F.J. , Wan H. , Mallipeddi R. , Griffiths W.A.D. , Dopping-Hepenstal P.J. , Ashton G.H.S. , Eady R.A.J. , McLean W.H.I. , McGrath J.A.
      J. Invest. Dermatol.118:838-844(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN SPPK3
    15. 15.
      "Proteomic comparison of needles from blister rust-resistant and susceptible Pinus strobus seedlings reveals upregulation of putative disease resistance proteins."
      Smith J.A. , Blanchette R.A. , Burnes T.A. , Jacobs J.J. , Higgins L. , Witthuhn B.A. , David A.J. , Gillman J.H.
      Mol. Plant Microbe Interact.19:150-160(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY
    16. 16.
      "Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells."
      Chuang N.N. , Huang C.C.
      Biochem. Soc. Trans.35:1292-1294(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;INTERACTION WITH GNB2L1 AND ITGB1;SUBCELLULAR LOCATION;IDENTIFICATION BY MASS SPECTROMETRY
    17. 17.
      "A proteomics approach to identify proteins differentially expressed in Douglas-fir seedlings infected by Phellinus sulphurascens."
      Islam M.A. , Sturrock R.N. , Ekramoddoullah A.K.M.
      J. Proteomics71:425-438(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY
    18. 18.
      "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
      Mol. Cell31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-66;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    19. 19.
      "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
      Sci. Signal.2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Leukemic T-cell.
    20. 20.
      "Proteomics approach to identify unique xylem sap proteins in Pierce's disease-tolerant Vitis species."
      Basha S.M. , Mazhar H. , Vasanthaiah H.K.N.
      Appl. Biochem. Biotechnol.160:932-944(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Xylem.
    21. 21.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21; SER-66 AND SER-344;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    22. 22.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    23. 23.
      "Interaction of high-molecular-weight kininogen with endothelial cell binding proteins suPAR, gC1qR and cytokeratin 1 determined by surface plasmon resonance (BiaCore)."
      Pixley R.A. , Espinola R.G. , Ghebrehiwet B. , Joseph K. , Kao A. , Bdeir K. , Cines D.B. , Colman R.W.
      Thromb. Haemost.105:1053-1059(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;INTERACTION WITH C1QBP
    24. 24.
      "Incorrectly annotated keratin derived peptide sequences lead to misleading MS/MS data interpretation."
      Nawrot R. , Barylski J. , Schulze W.X.
      J. Proteomics91:270-273(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CORRECTION OF SPECIES OF ORIGIN
    25. 25.
      "A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis."
      Chipev C.C. , Korge B.P. , Markova N. , Bale S.J. , Digiovanna J.J. , Compton J.G. , Steinert P.M.
      Cell70:821-828(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK PRO-161
    26. 26.
      "The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain."
      Korge B.P. , Compton J.G. , Steinert P.M. , Mischke D.
      J. Invest. Dermatol.99:697-702(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALLELE 1B 560-GLY--TYR-566 DEL
    27. 27.
      "Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis."
      Rothnagel J.A. , Dominey A.M. , Dempsey L.D. , Longley M.A. , Greenhalgh D.A. , Gagne T.A. , Huber M. , Frenk E. , Hohl D. , Roop D.R.
      Science257:1128-1130(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK GLN-490
    28. 28.
      "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity."
      Syder A.J. , Yu Q.-C. , Paller A.S. , Giudice G. , Pearson R. , Fuchs E.
      J. Clin. Invest.93:1533-1542(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK CYS-482
    29. 29.
      "Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis."
      Yang J.-M. , Chipev C.C. , Digiovanna J.J. , Bale S.J. , Marekov L.N. , Steinert P.M. , Compton J.G.
      J. Invest. Dermatol.102:17-23(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EHK GLY-155; SER-188 AND PRO-193
    30. 30.
      "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)."
      McLean W.H.I. , Eady R.A.J. , Dopping-Hepenstal P.J.C. , McMillan J.R. , Leigh I.M. , Navsaria H.A. , Higgins C. , Harper J.I. , Paige D.G. , Morley S.M.
      J. Invest. Dermatol.102:24-30(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EHK PRO-186 AND SER-188
    31. 31.
      "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma."
      Kimonis V. , DiGiovanna J.J. , Yang J.-M. , Doyle S.Z. , Bale S.J. , Compton J.G.
      J. Invest. Dermatol.103:764-769(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NEPPK ILE-74
    32. 32.
      "An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1."
      Kremer H. , Lavrijsen A.P. , McLean W.H.I. , Lane E.B. , Melchers D. , Ruiter D.J. , Mariman E.C. , Steijlen P.M.
      J. Invest. Dermatol.111:1224-1226(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK VAL-340
    33. 33.
      "Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1."
      Sybert V.P. , Francis J.S. , Corden L.D. , Smith L.T. , Weaver M. , Stephens K. , McLean W.H.I.
      Am. J. Hum. Genet.64:732-738(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AEI PHE-479 AND THR-479
    34. 34.
      "An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis."
      Arin M.J. , Longley M.A. , Kuster W. , Huber M. , Hohl D. , Rothnagel J.A. , Roop D.R.
      Exp. Dermatol.8:124-127(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK THR-188
    35. 35.
      "Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene."
      Michael E.J. , Schneiderman P. , Grossman M.E. , Christiano A.M.
      Exp. Dermatol.8:501-503(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AEI PHE-479
    36. 36.
      "Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene."
      Cserhalmi-Friedman P.B. , Squeo R. , Gordon D. , Garzon M. , Schneiderman P. , Grossman M.E. , Christiano A.M.
      Clin. Exp. Dermatol.25:241-243(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK PRO-214
    37. 37.
      "Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis."
      Arin M.J. , Longley M.A. , Epstein E.H. Jr. , Rothnagel J.A. , Roop D.R.
      Exp. Dermatol.9:16-19(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK THR-479
    38. 38.
      "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens."
      Whittock N.V. , Ashton G.H.S. , Griffiths W.A.D. , Eady R.A.J. , McGrath J.A.
      Br. J. Dermatol.145:330-335(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EHK ASP-155
    39. 39.
      "Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1."
      Terron-Kwiatkowski A. , Paller A.S. , Compton J. , Atherton D.J. , McLean W.H. , Irvine A.D.
      J. Invest. Dermatol.119:966-971(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PALMOPLANTAR KERATODERMA VAL-176--LYS-197 DEL AND ALA-459--466-GLN DEL
    40. 40.
      "Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis."
      Lee D.-Y. , Ahn K.-S. , Lee C.-H. , Rho N.-K. , Lee J.-H. , Lee E.-S. , Steinert P.M. , Yang J.-M.
      J. Invest. Dermatol.119:976-977(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EHK LYS-188 AND PRO-486
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