| 1 | PADI3, TCHH, TGM3, UHS, UHS2, UHS3
|
| Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
|
| Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC.
|
| Am J Hum Genet 99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004.
2016
|
| 2 | TCHH
|
| Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte.
|
| Takase T, Hirai Y.
|
| J Dermatol Sci 65(2):141-8. doi: 10.1016/j.jdermsci.2011.12.014.
2012
|
| 3 | TCHH
|
| Trichohyalin is a potential major autoantigen in human alopecia areata.
|
| Leung MC, Sutton CW, Fenton DA, Tobin DJ.
|
| J Proteome Res 9(10):5153-63. doi: 10.1021/pr100422u.
2010
|
| 4 | TCHH
|
| Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle.
|
| Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y.
|
| Exp Dermatol 18(2):152-9. Epub 2008 Jul 17.
2009
|
| 5 | TCHH
|
| Common variants in the trichohyalin gene are associated with straight hair in Europeans.
|
| Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG.
|
| Am J Hum Genet 85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009.
2009
|
| 6 | TCHH
|
| Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth.
|
| Steinert PM, Parry DA, Marekov LN.
|
| J Biol Chem 278(42):41409-19.
2003
|
| 7 | FLG, IVL, LOR, S100A10, S100A6, S100A8, S100A9, SPRR1B, SPRR2A, SPRR3, TCHH
|
| Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (epidermal differentiation complex) on human chromosome 1q21.
|
| Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A.
|
| J Invest Dermatol 106 : 989-992. 1996
|
| 8 | TCHH
|
| Human trichohyalin gene is clustered with the genes for other epidermal structural proteins and calcium-binding proteins at chromosomal locus 1q21.
|
| Lee SC, et al.
|
| J Invest Dermatol 100 : 65-68. 1993
|
| 9 | TCHH
|
| The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein.
|
| Lee SC, Kim IG, Marekov LN, O'Keefe EJ, Parry DA, Steinert PM.
|
| J Biol Chem 268(16):12164-76. 1993
|
| 10 | FLG, TCHH, IVL, LOR
|
| Mapping of the trichohyalin gene : co-localization with the profilaggrin, involucrin, and loricrin genes.
|
| Fietz MJ, et al.
|
| J Invest Dermatol 99 : 542-544. 1992
|