1 | ADWH, HTSS4, KRT74 |
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. | |
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N. | |
PLoS One 9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014. 2014 | |
2 | ADWH2, KRT71, KRT74 |
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. | |
Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y. | |
J Invest Dermatol 132(10):2342-2349. doi: 10.1038/jid.2012.154. Epub 2012 May 17. 2012 | |
3 | ADWH, HTSS4, KRT74 |
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. | |
Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W. | |
Hum Genet 129(4):419-24. Epub 2010 Dec 28. 2011 | |
4 | ADWH, KRT74 |
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. | |
Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM. | |
Am J Hum Genet 86(4):632-8. Epub 2010 Mar 25.PMID: 20346438 2010 | |
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 | KRT72, KRT73, KRT71, KRT74 |
K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. | |
Langbein L, Rogers MA, Praetzel S, Winter H, Schweizer J. | |
J Invest Dermatol 120(4):512-22. 2003 | |