Abstract
AbstractThe association of keratin mutations with genetic skin fragility disorders is now one of the best‐established examples of cytoskeleton disorders. It has served as a paradigm for many other diseases and has been highly informative for the study of intermediate filaments and their associated components, in helping to understand the functions of this large family of structural proteins. The keratin diseases have shown unequivocally that, at least in the case of the epidermal keratins, a major function of intermediate filaments is to provide physical resilience for epithelial cells. This review article reflects on the variety of phenotypes arising from mutations in keratins and the reasons for this variation. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
References
93
Referenced
193
10.1126/science.1720261
10.1016/0092-8674(91)90051-Y
10.1038/356244a0
10.1046/j.1365-2133.1999.02810.x
10.1046/j.1365-2133.2000.03358.x
10.1016/S0168-9525(03)00071-4
10.1111/j.0022-202X.2004.22309.x
10.1172/JCI12881
10.22203/eCM.v005a04
10.1002/1097-4598(200010)23:10<1456::AID-MUS2>3.0.CO;2-T
10.1111/j.1749-6632.1985.tb50408.x
10.1016/0955-0674(95)80053-0
10.1016/0959-437X(94)90030-2
10.1046/j.1365-2133.1998.02413.x
{'key': 'e_1_2_7_16_2', 'first-page': '795', 'article-title': 'Intermediate filament proteins', 'volume': '2', 'author': 'Quinlan R', 'year': '1995', 'journal-title': 'Protein Profile'}
/ Protein Profile / Intermediate filament proteins by Quinlan R (1995)10.1016/0092-8674(82)90400-7
10.1078/0171-9335-00354
10.1136/jcp.35.11.1253
10.1136/jcp.38.2.165
10.1111/j.1749-6632.1985.tb50442.x
10.1016/S0021-9258(19)38954-9
10.1016/0092-8674(90)90114-T
10.1002/path.1646
10.1038/labinvest.3780180
10.1046/j.1523-1747.1999.00535.x
10.1083/jcb.106.5.1635
10.1046/j.1365-2133.1998.02499.x
10.1016/0022-202X(89)90186-3
10.1159/000250096
10.1111/1523-1747.ep12491885
10.1073/pnas.90.8.3197
10.1093/hmg/8.1.143
10.1101/gad.10.14.1724
10.1038/ng0896-450
10.1128/MCB.19.4.3086
10.1111/1523-1747.ep12371726
10.1126/science.257.5073.1128
10.1016/0092-8674(92)90314-3
10.1016/0092-8674(92)90315-4
10.1046/j.1523-1747.1998.00389.x
10.1006/excr.1994.1348
10.1083/jcb.120.5.1251
10.1016/0014-4827(92)90412-2
10.1111/1523-1747.ep12394414
10.1111/1523-1747.ep12394307
10.1038/ng0894-485
10.1046/j.1523-1747.1998.00371.x
10.1111/j.1432-0436.1987.tb01565.x
10.1038/ng0294-174
10.1111/1523-1747.ep12666011
10.1046/j.1523-1747.1998.00445.x
10.1046/j.1523-1747.2000.00986.x
10.1046/j.1365-2133.2000.03246.x
10.1038/ng0395-273
10.1046/j.0022-202x.2001.01565.x
10.1038/ng0795-363
10.1093/hmg/7.7.1143
10.1111/1523-1747.ep12335315
10.1038/ng0697-184
10.1086/301650
10.1006/exer.1999.0769
10.1038/ng1295-450
10.1111/j.1601-0825.1999.tb00097.x
10.1038/ng1295-453
10.1074/jbc.M103305200
10.1074/jbc.274.28.19874
10.1046/j.1523-1747.1999.00685.x
10.1159/000022936
10.1007/s004390050607
10.1111/j.1749-6632.1991.tb24388.x
10.1111/1523-1747.ep12606183
10.1006/bbrc.1993.2555
10.1073/pnas.90.15.7414
10.1038/ng1193-294
10.1111/1523-1747.ep12292263
10.1073/pnas.93.17.9079
10.1046/j.1523-1747.2001.13041234.x
10.1046/j.1523-1747.2002.00186.x
10.1046/j.1523-1747.2002.01750.x
10.1046/j.1523-1747.2001.01292.x
10.1086/302278
10.1111/j.1365-2133.2004.05967.x
10.1001/archderm.1991.01680040109013
10.1046/j.1365-2133.2001.04199.x
10.1111/j.0022-202X.2004.22408.x
10.1016/S0002-9394(99)00317-7
10.1101/gad.8.24.2964
10.1101/gad.7.7a.1191
10.1074/jbc.M200974200
10.1038/ng0493-327
10.1046/j.0022-202x.2001.01591.x
10.1016/S0140-6736(00)02379-5
10.1038/ng1097-240
Dates
Type | When |
---|---|
Created | 20 years, 10 months ago (Oct. 19, 2004, 3:15 p.m.) |
Deposited | 1 year, 11 months ago (Sept. 11, 2023, 12:38 p.m.) |
Indexed | 12 hours, 11 minutes ago (Aug. 29, 2025, 6:30 a.m.) |
Issued | 20 years, 10 months ago (Oct. 19, 2004) |
Published | 20 years, 10 months ago (Oct. 19, 2004) |
Published Online | 20 years, 10 months ago (Oct. 19, 2004) |
Published Print | 20 years, 9 months ago (Nov. 1, 2004) |
@article{Lane_2004, title={Keratins and skin disorders}, volume={204}, ISSN={1096-9896}, url={http://dx.doi.org/10.1002/path.1643}, DOI={10.1002/path.1643}, number={4}, journal={The Journal of Pathology}, publisher={Wiley}, author={Lane, EB and McLean, WHI}, year={2004}, month=oct, pages={355–366} }