Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023370176> ?p ?o ?g. }
- W2023370176 endingPage "1571" @default.
- W2023370176 startingPage "1571" @default.
- W2023370176 abstract "<h3>Background:</h3> Clues from clinicopathologic studies of epidermolysis bullosa simplex (EBS) and epidermolytic hyperkeratosis (EH) have implicated abnormalities in keratin filaments as possibly underlying the pathogenesis of these diseases. Multiple avenues of study have now converged, which confirm this hypothesis. <h3>Observations:</h3> The clinical spectrum of EBS and EH is reviewed together with classic histologic, electron microscopic, and immuno—electron microscopic studies. Linkage analyses have shown in EBS and EH that the disease traits are linked to the keratin gene clusters on chromosomes 12 and 17. Transgenic mice bearing mutations or deletions in genes coding for basal cell keratin K14 express the phenotype of EBS, and transgenic mice bearing abnormal K1/K10 genes resemble EH. Increasing numbers of point mutations in the human keratin genes have been found in both sporadic and familial cases of EBS in keratins 5/14 and EH in keratins K1/10 genes, respectively, particularly in highly conserved subdomains of the keratin proteins. <h3>Conclusions:</h3> The recent and rapid progress in understanding the molecular biology of EBS and EH will also enhance knowledge about intermediate filament structure and function. Further studies of the effects of these mutations on the control of keratinocyte growth and differentiation are required. They will lead the way to rational pharmacologic or gene therapy." @default.
- W2023370176 created "2016-06-24" @default.
- W2023370176 creator A5015713295 @default.
- W2023370176 creator A5077149704 @default.
- W2023370176 date "1993-12-01" @default.
- W2023370176 modified "2023-09-26" @default.
- W2023370176 title "Mutations in the Genes for Epidermal Keratins in Epidermolysis Bullosa and Epidermolytic Hyperkeratosis" @default.
- W2023370176 cites W126956808 @default.
- W2023370176 cites W1410836308 @default.
- W2023370176 cites W1552753876 @default.
- W2023370176 cites W1562595207 @default.
- W2023370176 cites W1567485262 @default.
- W2023370176 cites W1807724819 @default.
- W2023370176 cites W1818552086 @default.
- W2023370176 cites W1937190418 @default.
- W2023370176 cites W1959273472 @default.
- W2023370176 cites W1959780325 @default.
- W2023370176 cites W1963687014 @default.
- W2023370176 cites W1964048729 @default.
- W2023370176 cites W1964591296 @default.
- W2023370176 cites W1964851941 @default.
- W2023370176 cites W1965150516 @default.
- W2023370176 cites W1965591734 @default.
- W2023370176 cites W1971866318 @default.
- W2023370176 cites W1973205897 @default.
- W2023370176 cites W1974817200 @default.
- W2023370176 cites W1976966238 @default.
- W2023370176 cites W1982319313 @default.
- W2023370176 cites W1989028742 @default.
- W2023370176 cites W1993418874 @default.
- W2023370176 cites W1993602156 @default.
- W2023370176 cites W1996253616 @default.
- W2023370176 cites W1998556703 @default.
- W2023370176 cites W2002643428 @default.
- W2023370176 cites W2003229744 @default.
- W2023370176 cites W2003668335 @default.
- W2023370176 cites W2006723235 @default.
- W2023370176 cites W2011701836 @default.
- W2023370176 cites W2011934741 @default.
- W2023370176 cites W2012747226 @default.
- W2023370176 cites W2014669381 @default.
- W2023370176 cites W2016693266 @default.
- W2023370176 cites W2017830084 @default.
- W2023370176 cites W2019118031 @default.
- W2023370176 cites W2026023235 @default.
- W2023370176 cites W2029273040 @default.
- W2023370176 cites W2032008785 @default.
- W2023370176 cites W2044642432 @default.
- W2023370176 cites W2050105563 @default.
- W2023370176 cites W2051400228 @default.
- W2023370176 cites W2051804495 @default.
- W2023370176 cites W2053227522 @default.
- W2023370176 cites W2063718125 @default.
- W2023370176 cites W2065389561 @default.
- W2023370176 cites W2066390328 @default.
- W2023370176 cites W2069571431 @default.
- W2023370176 cites W2070003223 @default.
- W2023370176 cites W2075965099 @default.
- W2023370176 cites W2079565137 @default.
- W2023370176 cites W2080130596 @default.
- W2023370176 cites W2080377992 @default.
- W2023370176 cites W2083327399 @default.
- W2023370176 cites W2088692121 @default.
- W2023370176 cites W2090755739 @default.
- W2023370176 cites W2092285239 @default.
- W2023370176 cites W2134884890 @default.
- W2023370176 cites W2138316626 @default.
- W2023370176 cites W2156411113 @default.
- W2023370176 cites W2157038557 @default.
- W2023370176 cites W2170269410 @default.
- W2023370176 cites W2274008932 @default.
- W2023370176 cites W2468607529 @default.
- W2023370176 cites W2477501551 @default.
- W2023370176 cites W2998539551 @default.
- W2023370176 cites W6354235 @default.
- W2023370176 cites W79608562 @default.
- W2023370176 cites W80357131 @default.
- W2023370176 cites W9509648 @default.
- W2023370176 cites W2410954325 @default.
- W2023370176 doi "https://doi.org/10.1001/archderm.1993.04540010049007" @default.
- W2023370176 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7504434" @default.
- W2023370176 hasPublicationYear "1993" @default.
- W2023370176 type Work @default.
- W2023370176 sameAs 2023370176 @default.
- W2023370176 citedByCount "35" @default.
- W2023370176 countsByYear W20233701762012 @default.
- W2023370176 countsByYear W20233701762020 @default.
- W2023370176 crossrefType "journal-article" @default.
- W2023370176 hasAuthorship W2023370176A5015713295 @default.
- W2023370176 hasAuthorship W2023370176A5077149704 @default.
- W2023370176 hasConcept C102230213 @default.
- W2023370176 hasConcept C104317684 @default.
- W2023370176 hasConcept C108335385 @default.
- W2023370176 hasConcept C127716648 @default.
- W2023370176 hasConcept C141035611 @default.
- W2023370176 hasConcept C142669718 @default.
- W2023370176 hasConcept C142724271 @default.
- W2023370176 hasConcept C1491633281 @default.