Document Detail

Molecular mechanisms of genetic disorders of keratinization.
MedLine Citation:
PMID:  1259451     Owner:  NLM     Status:  MEDLINE    
An attempt is made to organize our current knowledge about genetically determined disorders of keratinized tissue, which primarily affect the epidermal structural proteins. Type I defects are those involving a change in a single amino acid and are analogous to sickle cell anemia. Type II defects are associated with abnormal retention of a normal structural protein intermediate. Type III defects are related to alterations in the normal post-translational cross-linking seen in keratinized tissues. Type IV defects are associated with altered proportions of fibrous proteins and are analogous to thalassemia. In type V defects, primary genetic disorders of other tissues profoundly affect keratinization in a secondary fashion. Examples from genetic disorders of the hair and epidermis are used to build this conceptual scheme.
L A Goldsmith
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of dermatology     Volume:  112     ISSN:  0003-987X     ISO Abbreviation:  Arch Dermatol     Publication Date:  1976 Mar 
Date Detail:
Created Date:  1976-06-02     Completed Date:  1976-06-02     Revised Date:  2008-03-17    
Medline Journal Info:
Nlm Unique ID:  0372433     Medline TA:  Arch Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  375-8     Citation Subset:  AIM; IM    
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MeSH Terms
Metabolism, Inborn Errors*
Models, Biological*
Molecular Biology
Skin / metabolism
Skin Diseases / genetics*,  metabolism

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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