Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

Experimental Dermatology
J C ChamcheuHasan Mukhtar

Abstract

Hereditary keratin disorders of the skin and its appendages comprise a large group of clinically heterogeneous disfiguring blistering and ichthyotic diseases, primarily characterized by the loss of tissue integrity, blistering and hyperkeratosis in severely affected tissues. Pathogenic mutations in keratins cause these afflictions. Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis and most recently therapy development. Examples include epidermolysis bullosa simplex, keratinopathic ichthyosis, pachyonychia congenita and several other tissue-specific hereditary keratinopathies. Understanding the molecular and genetic events underlying skin dysfunction has initiated alternative treatment approaches that may provide novel therapeutic opportunities for affected patients. Animal and in vitro disease modelling studies have shed more light on molecular pathogenesis, further defining the role of keratins in disease processes and promoting the translational development of new gene and pharmacological therapeutic strategies. Given that the molecular basis for these monogenic disorders is well established, gene therapy and drug discovery targeting pharmacologi...Continue Reading

References

Mar 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·Y ZhangG H Posner
May 1, 1990·Journal of the American Academy of Dermatology·J A MoyD M Carter
Nov 1, 1990·Journal of the American Academy of Dermatology·I R YoungerM J Tidman
Oct 1, 1988·The Journal of Investigative Dermatology·Y BarrandonH Green
Oct 1, 1984·Archives of Dermatology·J L Jennings
Jul 1, 1983·Journal of Biochemistry·K Gekko, S Koga
Jan 1, 1993·Dermatology : International Journal for Clinical and Investigative Dermatology·G TadiniR Cavalli
Sep 19, 1996·The New England Journal of Medicine·N E MaestriS S Bassett
Mar 1, 1997·Trends in Biochemical Sciences·J Frydman, J Höhfeld
Sep 1, 1997·Molecular and Cellular Biology·D D MosserB Massie
Aug 24, 1999·Archives of Dermatology·C R RetiefR W Pearson
Sep 2, 1999·Human Molecular Genetics·P A Frischmeyer, H C Dietz
May 16, 2000·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·H NaverS M Aquilonius
Jan 9, 2001·Nature Cell Biology·G C MeachamD M Cyr
Jun 19, 2001·American Journal of Physiology. Lung Cellular and Molecular Physiology·R C Rubenstein, B M Lyons
Sep 1, 2001·Trends in Molecular Medicine·M J Arin, D R Roop
Mar 29, 2002·The Journal of Investigative Dermatology·Petra H L Schuilenga-HutMarcel F Jonkman
Apr 20, 2002·Differentiation; Research in Biological Diversity·Jutta KirfelThomas M Magin
May 29, 2002·Human Gene Therapy·Marcela Del RioJosé Luis Jorcano
Jun 21, 2002·Journal of Internal Medicine·P A KhavariA Vahlquist
Jul 4, 2002·Molecular Therapy : the Journal of the American Society of Gene Therapy·Pamela L ZeitlinLois Brass-Ernst
Oct 12, 2002·Journal of Cell Science·Mariella D'AlessandroE Birgitte Lane
Oct 31, 2002·The Journal of Investigative Dermatology·Ana Terron-KwiatkowskiAlan D Irvine
Jul 15, 2003·Molecular Biology of the Cell·Qin ZhouM Bishr Omary
Oct 1, 1955·The British Journal of Dermatology·P F NAYLOR
Jan 13, 2004·Proceedings of the National Academy of Sciences of the United States of America·Noah WeislederYassemi Capetanaki
Feb 14, 2004·The Journal of Investigative Dermatology·Frances J D SmithW H Irwin McLean

❮ Previous
Next ❯

Citations

Oct 8, 2015·Dermatologic Therapy·Jéssica González-RamosPedro Herranz-Pinto
Nov 26, 2015·Journal of Dermatological Science·Heinz FischerLeopold Eckhart
Sep 13, 2013·The British Journal of Dermatology·K Wertheim-TysarowskaC Kowalewski
Jan 27, 2015·Cell and Tissue Research·Maria KnöbelFrances J D Smith
Jun 7, 2016·Drug Discovery Today·Lambert I J C BergersSusan Gibbs
Mar 14, 2017·Frontiers in Plant Science·Shuxuan LiYan Li
Oct 19, 2019·Archives of Dermatological Research·Hernán CortésGerardo Leyva-Gómez
Jul 5, 2016·Experimental Dermatology·Olivier BornertAlexander Nyström
Oct 30, 2015·Experimental Dermatology·Jean Christopher ChamcheuHasan Mukhtar
Jun 18, 2017·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Janin LehmannSteffen Emmert
Aug 2, 2017·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Janin LehmannSteffen Emmert
Oct 15, 2013·Experimental Dermatology·Francesc ParisJosé L Vizmanos
Feb 6, 2015·Experimental Dermatology·Yuval Ramot, Abraham Zlotogorski
Jan 8, 2014·Disease Models & Mechanisms·Julie S Valastyan, Susan Lindquist

❮ Previous
Next ❯

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.