NDLI: Novel molecular therapies for heritable skin disorders.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Uitto, Jouni Christiano, Angela M. McLean, W. H. Irwin McGrath, John A.
Description	Country affiliation: United States Author Affiliation: Uitto J ( Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. jouni.uitto@jefferson.edu)
Abstract	Tremendous progress has been made in the past two decades in molecular genetics of heritable skin diseases, and pathogenic mutations have been identified in as many as 500 distinct human genes. This progress has resulted in improved diagnosis with prognostic implications, has refined genetic counseling, and has formed the basis for prenatal and presymptomatic testing and preimplantation genetic diagnosis. However, there has been relatively little progress in developing effective and specific treatments for these often devastating diseases. However, very recently, a number of novel molecular strategies, including gene therapy, cell-based approaches, and protein replacement therapy, have been explored for the treatment of these conditions. This overview will focus on the prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in which significant progress has been made recently toward treatment, and it will illustrate how some of the translational research therapies have already entered the clinical arena.
File Format	HTM / HTML
ISSN	0022202X
e-ISSN	15231747
DOI	10.1038/jid.2011.389
Journal	Journal of Investigative Dermatology
Part	Pt 2
Issue Number	3
Volume Number	132
Language	English
Publisher	Elsevier
Publisher Date	2012-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Dermatology Genetic Therapy Skin Diseases Genetics Therapy Stem Cell Transplantation Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology Dermatology

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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