Discovery of keratin function and role in genetic diseases: the year that 1991 was-Reference-Cited by-同舟云学术

Discovery of keratin function and role in genetic diseases: the year that 1991 was

Published:2016-09-15 Issue:18 Volume:27 Page:2807-2810
ISSN:1059-1524
Container-title:Molecular Biology of the Cell
language:en
Short-container-title:MBoC

Author:

Coulombe Pierre A.¹²

Affiliation:

1. Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Departments of Biological Chemistry, Oncology, and Dermatology, School of Medicine, Johns Hopkins University, Baltimore, MD 21205

2. Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21205

Abstract

In 1991, a set of transgenic mouse studies took the fields of cell biology and dermatology by storm in providing the first credible evidence that keratin intermediate filaments play a unique and essential role in the structural and mechanical support in keratinocytes of the epidermis. Moreover, these studies intimated that mutations altering the primary structure and function of keratin filaments underlie genetic diseases typified by cellular fragility. This Retrospective on how these studies came to be is offered as a means to highlight the 25th anniversary of these discoveries.

Publisher

American Society for Cell Biology (ASCB)

Subject

Cell Biology,Molecular Biology

Reference29 articles.

1. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.

2. Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments.

3. Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

4. Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

5. A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

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