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Home > A. Molecular pathology > keratinopathies



Thursday 18 March 2004

See also

- keratinopathic ichtyoses


- Keratin gene mutations in disorders of human skin and its appendages. Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. PMID: 21176769

- 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