| 1 | FABP4, KRT1 |
| New insights into circulating FABP4: Interaction with cytokeratin 1 on endothelial cell membranes. | |
| Saavedra P, Girona J, Bosquet A, Guaita S, Canela N, Aragonès G, Heras M, Masana L. | |
| Biochim Biophys Acta 1853(11 Pt A):2966-74. doi: 10.1016/j.bbamcr.2015.09.002. Epub 2015 Sep 4. 2015 | |
| 2 | EHK1, KRT1 |
| Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. | |
| Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H. | |
| J Invest Dermatol 127(6):1371-4. Epub 2007 Feb 1. 2007 | |
| 3 | KRT1, IHCM, PPKS3 |
| A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. | |
| Richardson ES, Lee JB, Hyde PH, Richard G. | |
| J Invest Dermatol 126(1):79-84. 2006 | |
| 4 | KRT1, PPKS3 |
| Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with tonotubular keratin. | |
| Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM. | |
| J Invest Dermatol 126(3):607-13. 2006 | |
| 5 | 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 | |
| 6 | KRT83, KRT86, KRT81, KRT1 |
| Keratins of the human hair follicle. | |
| Langbein L, Schweizer J. | |
| Int Rev Cytol 243:1-78. Review. 2005 | |
| 7 | 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 | |
| 8 | KRT1, PPKS3 |
| Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. | |
| Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. | |
| J Invest Dermatol 118(5):838-44. 2002 | |
| 9 | KRT1, KRT5 |
| Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. | |
| Whittock NV, Eady RA, McGrath JA. | |
| Biochem Biophys Res Commun 274(1):149-52. 2000 | |
| 10 | EHK1, KRT1 |
| A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. | |
| Yang JM, et al. | |
| J Invest Dermatol 112(3):376-9. 1999 | |
| 11 | KNG1, KRT1 |
| Mapping binding domains of kininogens on endothelial cell cytokeratin 1. | |
| Shariat-Madar Z, et al. | |
| J Biol Chem 274(11):7137-45. 1999 | |
| 12 | EHK1, KRT1 |
| An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. | |
| Kremer H, et al. | |
| J Invest Dermatol 111 : 1224-1226. 1998 | |
| 13 | KNG, KNG1, KRT1 |
| Identification of cytokeratin 1 as a binding protein and presentation receptor for kininogens on endothelial cells. | |
| Hasan AAK, et al. | |
| Proc Natl Acad Sci U S A 95(7):3615-20 1998 | |
| 14 | EHK1, KRT1 |
| A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. | |
| Yang JM, et al. | |
| J Invest Dermatol 107 : 439-441. 1996 | |
| 15 | KRT1, EHK1 |
| Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. | |
| Yang JM, et al. | |
| J Invest Dermatol 102 : 17-23. 1994 | |
| 16 | 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 | |
| 17 | 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 | |
| 18 | PPKS3, KRT1 |
| A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. | |
| Kimonis V, et al. | |
| J Invest Dermatol 103 : 764-769. 1994 | |
| 19 | EHK1, KRT1 |
| Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. | |
| Pulkkinen L, et al. | |
| J Clin Invest 91 : 357-361. 1993 | |
| 20 | 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 | |
| 21 | 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 | |
| 22 | KRT1, KRT6B |
| Two type II keratin genes are localized on human chromosome 12. | |
| Popescu NC, Bowden PE, DiPaolo JA. | |
| Hum Genet 82(2):109-12. 1989 | |