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Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Chamcheu JC, et al. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Epub 2010 Dec 19. Arch Biochem Biophys. 2011. PMID: 21176769 Free PMC article. Review.
The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification, improved diagnosis with prognostic implications, prenatal testing and genetic counseling in severe keratin genodermatoses. ...This …
The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification …
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Ross R, et al. J Am Acad Dermatol. 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. J Am Acad Dermatol. 2008. PMID: 18571597 Free PMC article. Review.
All slides were systematically evaluated for a variety of features, including differences in the pattern of the epidermolysis and hyperkeratosis. Clinical predictions of whether the biopsy specimen was obtained from patients with generalized cEHK, mosaic cEHK, or IBS were …
All slides were systematically evaluated for a variety of features, including differences in the pattern of the epidermolysis and hyperkerat …
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH. Irvine AD, et al. Clin Exp Dermatol. 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x. Clin Exp Dermatol. 2000. PMID: 11167982
We detected a novel mutation in a three generation kindred with IBS (1448T-->A) within exon 7 of the KRT2E gene. This is predictive of an I483N substitution in the 2B domain of K2e. This extends the range of mutations reported to date and illustrates the usefulness of m …
We detected a novel mutation in a three generation kindred with IBS (1448T-->A) within exon 7 of the KRT2E gene. This is predictive …
Flow-cytometric investigation of epidermal cell characteristics in monogenic disorders of keratinization and their modulation by topical calcipotriol treatment.
Lucker GP, Steijen PM, Suykerbuyk EJ, Kragballe K, Brandrup F, van de Kerkhof PC. Lucker GP, et al. Acta Derm Venereol. 1996 Mar;76(2):97-101. doi: 10.2340/000155557697101. Acta Derm Venereol. 1996. PMID: 8740259 Free article.
Further studies need to be performed to establish its usefulness as a diagnostic and prognostic tool....
Further studies need to be performed to establish its usefulness as a diagnostic and prognostic tool....
A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.
Yang JM, Lee S, Bang HD, Kim WS, Lee ES, Steinert PM. Yang JM, et al. J Invest Dermatol. 1997 Jul;109(1):116-8. doi: 10.1111/1523-1747.ep12276775. J Invest Dermatol. 1997. PMID: 9204966 Free article.
The disease phenotype is consistent with the inappropriate substitution of a proline near the end of the rod domain, because it lies near the predicted molecular overlap region of coiled-coil molecules, which is critical for the maintenance of the structural integrity of k …
The disease phenotype is consistent with the inappropriate substitution of a proline near the end of the rod domain, because it lies near th …