Literature DB >> 12518787

Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.

Jouni Uitto1, Leena Pulkkinen, Franziska Ringpfeil.   

Abstract

The 42nd Annual Symposium on the Biology of the Skin, entitled "The Genetics of Skin Disease", was held in Snowmass Village, Colorado, in July 1993. That meeting presented the opportunity to discuss how modern approaches to molecular genetics and molecular biology could be applied to understanding the mechanisms of skin diseases. The published proceedings of this meeting stated that "It is an opportune time to examine the genetics of skin disease" (Norris et al, 1994). Indeed, this meeting just caught the wave of early pioneering studies that have helped us to understand the molecular basis of a large number of genodermatoses. This overview presented in the 50th Annual Symposium on the biology of the skin, highlights the progress made in the molecular genetics of heritable skin diseases over the past decade.

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Year:  2002        PMID: 12518787     DOI: 10.1046/j.1523-1747.2002.19637.x

Source DB:  PubMed          Journal:  J Investig Dermatol Symp Proc        ISSN: 1087-0024


  2 in total

1.  Disseminated tense bullae on newborn.

Authors:  Graziele Áquila de Souza Brandão; Heloise Caroline de Souza Lima; Rebeca Teixeira Gonçalves; Daniela Takano; Valter Kozmhinsky
Journal:  JAAD Case Rep       Date:  2022-01-19

2.  Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Authors:  Sang Trieutien; Tam Vu Van; My Tran Ngoc Thao; Son Trinh The; Khoa Tran Van; Tung Nguyen Thanh; Tuan Tran Van; Hanh Nguyen Thi
Journal:  Appl Clin Genet       Date:  2021-12-09
  2 in total

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