Crossref journal-article
Rockefeller University Press
The Journal of cell biology (291)
Abstract

Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited blistering skin disorder caused by point mutations in the suprabasal cytokeratins 1 or 10. Targeting the murine cytokeratin 10 gene in ES cells resulted in mice with different phenotypes in the homozygotes and heterozygotes; both of which exhibit similarities to specific clinical characteristics of BCIE. Homozygotes suffered from severe skin fragility and died shortly after birth. Heterozygotes were apparently unaffected at birth, but developed hyperkeratosis with age. In both genotypes, aggregation of cytokeratin intermediate filaments, changes in cytokeratin expression, and alterations in the program of epidermal differentiation were observed. In addition we demonstrate, for the first time, the existence of the murine equivalent of human cytokeratin 16.

Bibliography

Porter, R. M., Leitgeb, S., Melton, D. W., Swensson, O., Eady, R. A., & Magin, T. M. (1996). Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis. The Journal of Cell Biology, 132(5), 925–936.

Authors 6
  1. R M Porter (first)
  2. S Leitgeb (additional)
  3. D W Melton (additional)
  4. O Swensson (additional)
  5. R A Eady (additional)
  6. T M Magin (additional)
References 0 Referenced 81

None

Dates
Type When
Created 21 years, 3 months ago (May 14, 2004, 9:23 p.m.)
Deposited 2 years, 1 month ago (July 22, 2023, 2:15 a.m.)
Indexed 3 months ago (May 20, 2025, 9:30 a.m.)
Issued 29 years, 5 months ago (March 1, 1996)
Published 29 years, 5 months ago (March 1, 1996)
Published Online 29 years, 5 months ago (March 1, 1996)
Published Print 29 years, 5 months ago (March 1, 1996)
Funders 0

None

@article{Porter_1996, title={Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.}, volume={132}, ISSN={1540-8140}, url={http://dx.doi.org/10.1083/jcb.132.5.925}, DOI={10.1083/jcb.132.5.925}, number={5}, journal={The Journal of cell biology}, publisher={Rockefeller University Press}, author={Porter, R M and Leitgeb, S and Melton, D W and Swensson, O and Eady, R A and Magin, T M}, year={1996}, month=mar, pages={925–936} }