| 1 | EHK2, KRT10 |
| New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy. | |
| Sheth N, Greenblatt D, McGrath JA. | |
| Br J Dermatol 157(3):602-4. Epub 2007 Jun 26. No abstract available. 2007 | |
| 2 | KRT10, EHK2 |
| A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. | |
| Muller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ. | |
| Hum Mol Genet 15(7):1133-41. Epub 2006 Feb 27. 2006 | |
| 3 | KRT1, KRT10, KRT12, KRT13, KRT14, KRT14P, KRT15, KRT16, KRT17, KRT17P3, KRT18, KRT18P12, KRT18P16, KRT18P17, KRT18P18, KRT18P19, KRT18P20, KRT18P21, KRT18P22, KRT18P23, KRT18P24, KRT18P25, KRT18P26, KRT18P27, KRT18P28, KRT18P29, KRT18P30, KRT18P31, KRT18P32, KRT18P33, KRT18P34, KRT18P35, KRT18P36, KRT18P37, KRT18P38, KRT18P39, KRT18P40, KRT18P41, KRT18P42, KRT18P43, KRT18P44, KRT18P45, KRT18P46, KRT18P47, KRT18P48, KRT18P49, KRT18P5, KRT18P50, KRT18P8, KRT19, KRT19P1, KRT19P2, KRT19P3, KRT2, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT3, KRT31, KRT32, KRT33, KRT33A, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT4, KRT40, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KRT8P10, KRT8P13, KRT8P15, KRT8P17, KRT8P18, KRT8P19, KRT8P20, KRT8P21, KRT8P22, KRT8P23, KRT8P24, KRT8P25, KRT8P26, KRT8P27, KRT8P28, KRT8P29, KRT8P30, KRT8P5, KRT8P6, KRT8P7, KRT8P8, KRT8P9, KRT9, KRTAP19-8, KRTAP20-4 |
| New consensus nomenclature for mammalian keratins. | |
| Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW. | |
| J Cell Biol 174(2):169-74. Epub 2006 Jul 10. 2006 | |
| 4 | PPKS3, KRT1, EHK2, KRT10 |
| Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. | |
| Virtanen M, Smith SK, Gedde-Dahl T Jr, Vahlquist A, Bowden PE. | |
| J Invest Dermatol 121(5):1013-20. 2003 | |
| 5 | CMH1, EHK2, KRT10, MYH7 |
| Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. | |
| Bundgaard H, et al. | |
| J Mol Cell Cardiol 31(4):745-50. 1999 | |
| 6 | KRT10, CIEHK |
| Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. | |
| Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH. | |
| Am J Hum Genet 64(3):732-8. 1999 | |
| 7 | EHK2, KRT10 |
| A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. | |
| Suga Y, et al. | |
| J Invest Dermatol 111 : 1220-1223. 1998 | |
| 8 | EHK2, KRT10 |
| A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis. | |
| Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T. | |
| Jpn J Hum Genet 42(1):217-23. 1997 | |
| 9 | EHK2, KRT10 |
| An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis. | |
| Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM. | |
| J Invest Dermatol 109(5):692-4. 1997 | |
| 10 | KRT10, CIEHK |
| A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. | |
| Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR. | |
| J Invest Dermatol 108(3):357-61. 1997 | |
| 11 | KRT1, KRT10, EHK1, EHK2 |
| Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). | |
| McLean WHI, et al. | |
| J Invest Dermatol 102 : 24-30. 1994 | |
| 12 | EHK1, EHK2, KRT1, KRT10 |
| Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. | |
| Syder AJ, et al. | |
| J Clin Invest 93 : 1533-1542. 1994 | |
| 13 | EHK2, KRT10 |
| Genetic and clinical mosaicism in a type of epidermal nevus. | |
| Paller AS, et al. | |
| N Engl J Med 331 : 1408-1415. 1994 | |
| 14 | EHK2, KRT10 |
| A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. | |
| Rothnagel JA, et al. | |
| Hum Mol Genet 2 : 2147-2150. 1993 | |
| 15 | KRT10 |
| Frequencies of human keratin 10 alleles. | |
| Mischke D. | |
| Hum Mol Genet 2 : 618. 1993 | |
| 16 | KRT10 |
| Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. | |
| Korge BP, et al. | |
| Proc Natl Acad Sci U S A 89 : 910-914. 1992 | |
| 17 | EHK1, EHK2, KRT1, KRT10 |
| Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. | |
| Rothnagel JA, et al. | |
| Science 257 : 1128-1130. 1992 | |
| 18 | KRT10 |
| AvaII RFLP of human keratin 10 (KRT-10) detected by PCR. | |
| McLean WHI, et al. | |
| Hum Mol Genet 1 : 659. 1992 | |
| 19 | KRT1, KRT10, EHK1, EHK2 |
| Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma. | |
| Ishida-Yamamoto A, et al. | |
| J Invest Dermatol 99 : 19-26. 1992 | |
| 20 | KRT10, KRT13, KRT15 |
| Chromosomal mapping and physical linkage analysis of human acidic cytokeratin genes. | |
| Romano V, et al. | |
| (HGM11) Cytogenet Cell Genet 58 : 2009-2010. 1991 | |
| 21 | KRT10 |
| Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human cytokeratin 10. | |
| Rieger M, et al. | |
| J Mol Biol 204 : 841-856. 1988 | |