Home > A. Molecular pathology > keratinopathies
keratinopathies
cytokeratinopathies
Thursday 18 March 2004
See also
keratinopathic ichtyoses
References
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Lane EB, McLean WH. Keratins and skin disorders.
J Pathol. 2004 Nov;204(4):355-66. PMID: #15495218#
Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet. 2004 Nov 15;131C(1):4-11. PMID: #15452838#
Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br J Dermatol. 2001 Aug;145(2):330-5. PMID: #11531804#
Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. 1999 May;140(5):815-28. PMID: #10354017#
Bale SJ, DiGiovanna JJ. Genetic approaches to understanding the keratinopathies. Adv Dermatol. 1997;12:99-113; discussion 114. PMID: #8973737#
Parry DA. Protein chains in hair and epidermal keratin IF: structural features and spatial arrangements. EXS. 1997;78:177-207. PMID: #8962493#
Parry DA. Hard alpha-keratin IF: a structural model lacking a head-to-tail molecular overlap but having hybrid features characteristic of both epidermal keratin and vimentin IF. Proteins. 1995 Jul;22(3):267-72. PMID: #7479699#
Stevens HP, Rustin MH. Keratin gene mutations in human skin disease. Postgrad Med J. 1994 Nov;70(829):775-9. PMID: #7529919#
Lane EB. Keratin diseases. Curr Opin Genet Dev. 1994 Jun;4(3):412-8. PMID: #7522672#
Freedberg IM. Keratin: a journey of three decades. J Dermatol. 1993 Jun;20(6):321-8. PMID: #7688776#
Steinert PM, Bale SJ. Genetic skin diseases caused by mutations in keratin intermediate filaments. Trends Genet. 1993 Aug;9(8):280-4. PMID: #7691000#
