PMID: 9433026Jan 20, 1998Paper

Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases

The Journal of Dermatology
J Uitto

Abstract

Spectacular success has recently been made in understanding the molecular basis of various heritable skin diseases. A prototype of such conditions is epidermolysis bullosa (EB), a heterogenous group of mechano-bullous disorders, characterized by fragility of the skin and other specialized epithelia. The fragility of the skin in EB results from defective attachment of the epidermis to the underlying dermis due to genetic lesions within molecules of the basement membrane zone (BMZ) at the dermal-epidermal junction. Specifically, distinct mutations have been disclosed thus far in ten different genes encoding the macromolecular components of the BMZ, and the combinations and the types of mutations as well as their positions along the altered gene products collectively reflect the phenotypic variability observed in this group of heritable skin diseases. This information has major implications for genetic counseling of families at risk for recurrence of EB in subsequent pregnancies and in future generations. Furthermore, examination of specific mutations in an affected newborn allows prognostication of the severity of the clinical outcome. Finally, mutation analyses have provided the basis to develop DNA-based prenatal testing by cho...Continue Reading

References

Jul 1, 1992·Experimental Dermatology·J UittoA M Christiano
Sep 1, 1992·The Journal of Clinical Investigation·A HovnanianM Goossens
Mar 31, 1992·Biochemical and Biophysical Research Communications·T TanakaS Imamura
Aug 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·M G ParenteJ Uitto
Oct 1, 1986·The Journal of Cell Biology·L Y SakaiR E Burgeson
Mar 1, 1987·The Journal of Cell Biology·D R KeeneR E Burgeson
Feb 1, 1995·Current Opinion in Cell Biology·W H McLean, E B Lane
Jan 1, 1995·Annual Review of Biochemistry·D J Prockop, K I Kivirikko
Jan 1, 1994·Archives of Dermatological Research·J Uitto, A M Christiano
Sep 1, 1993·The Journal of Investigative Dermatology·R E Burgeson
Apr 1, 1993·Annals of Medicine·K I Kivirikko
Jan 1, 1993·Cytogenetics and Cell Genetics·D S GreenspanT B Shows
Jan 1, 1996·Molecular Biology Reports·J Uitto, L Pulkkinen
Dec 1, 1996·Experimental Dermatology·L D Corden, W H McLean

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Citations

Jun 26, 1999·The Journal of Investigative Dermatology·J E MellerioJ A McGrath
Nov 18, 2016·International Journal of Molecular Sciences·Stefanie LöffekIris Helfrich
Apr 16, 2002·Clinical and Experimental Dermatology·S MatsubaH Ogawa
Aug 16, 2000·International Journal of Dermatology·J C Salas-AlanisJ A McGrath

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