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[해외논문] Discovery of keratin function and role in genetic diseases: the year that 1991 was 원문보기

Molecular biology of the cell, v.27 no.18, 2016년, pp.2807 - 2810  

Coulombe, Pierre A.

Abstract AI-Helper 아이콘AI-Helper

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, thes...

참고문헌 (29)

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  2. Albers K Fuchs E Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments J Cell Biol 1989 108 1477 1493 2466849 

  3. Anton-Lamprecht I Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis J Invest Dermatol 1983 81 149s 153s 6345689 

  4. Bonifas JM Rothman AL Epstein E Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities Science 1991 254 1202 1205 1720261 

  5. Chan Y Anton-Lamprecht I Yu QC Jackel A Zabel B Ernst JP Fuchs E A human keratin 14 “knockout”: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein Genes Dev 1994 8 2574 2587 7525408 

  6. Coulombe PA Chan YM Albers K Fuchs E Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro J Cell Biol 1990 111 3049 3064 1702787 

  7. Coulombe PA Hutton ME Letai A Hebert A Paller AS Fuchs E Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses Cell 1991a 66 1301 1311 1717157 

  8. Coulombe PA Hutton ME Vassar R Fuchs E A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases J Cell Biol 1991b 115 1661 1674 1721910 

  9. Coulombe PA Kerns ML Fuchs E Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility J Clin Invest 2009 119 1784 1793 19587453 

  10. Fine JD Bauer EA Briggaman RA Carter DM Eady RA Esterly NB Holbrook KA Hurwitz S Johnson L Lin A Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry J Am Acad Dermatol 1991 24 119 135 1999509 

  11. Fuchs E Coulombe PA Of mice and men: genetic skin diseases of keratin Cell 1992 69 899 902 1376637 

  12. Hobbs RP Jacob JT Coulombe PA Keratins are going nuclear Dev Cell 2016 38 227 233 27505414 

  13. Ishikawa H Bischoff R Holtzer H Mitosis and intermediate-sized filaments in developing skeletal muscle J Cell Biol 1968 38 538 555 5664223 

  14. Ito M Okuda C Shimizy N Tazawa T Sato Y Epidermolysis bullosa simplex (koebner) is a keratin disorder. Ultrastructural and immunohoistochemical study Arch Dermatol 1991 127 367 72 1705413 

  15. Kitajima Y Inoue S Yaoita H Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex Arch Dermatol Res 1989 281 5 10 2471468 

  16. Lammerding J Schulze PC Takahashi T Kozlov S Sullivan T Kamm RD Stewart CL Lee RT Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction J Clin Invest 2004 113 370 378 14755334 

  17. Lane EB Rugg EL Navsaria H Leigh IM Heagerty AH Ishida YA Eady RA A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering Nature 1992 356 244 246 1372711 

  18. Lee CH Kim MS Chung BM Leahy DJ Coulombe PA Structural basis for heteromeric assembly and perinuclear organization of keratin filaments Nat Struct Mol Biol 2012 19 707 715 22705788 

  19. Lloyd C Yu QC Cheng J Turksen K Degenstein L Hutton E Fuchs E The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14 J Cell Biol 1995 129 1329 1344 7539810 

  20. Ma L Yamada S Wirtz D Coulombe PA A “hot-spot” mutation alters the mechanical properties of keratin filament networks Nat Cell Biol 2001 3 503 506 11331879 

  21. Omary MB Coulombe PA McLean WHI Intermediate filament proteins and their associated diseases N Engl J Med 2004 351 2087 2100 15537907 

  22. Oshima RG Intermediate filaments: a historical perspective Exp Cell Res 2007 313 1981 1994 17493611 

  23. Peters B Kirfel J Bussow H Vidal M Magin TM Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex Mol Biol Cell 2001 12 1775 1789 11408584 

  24. Rugg EL McLean WH Lane EB Pitera R McMillan JR Dopping-Hepenstal PJ Navsaria HA Leigh IM Eady RA A functional “knockout” of human keratin 14 Genes Dev 1994 8 2563 2573 7525407 

  25. Saitou M Sugai S Tanaka T Shimouchi K Fuchs E Narumiya S Kakizuka A Inhibition of skin development by targeted expression of a dominant-negative retinoic acid receptor Nature 1995 374 159 162 7533262 

  26. Szeverenyi I Cassidy AJ Chung CW Lee BT Common JE Ogg SC Chen H Sim SY Goh WL Ng KW The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases Hum Mutat 2008 29 351 360 18033728 

  27. Vassar R Coulombe PA Degenstein L Albers K Fuchs E Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease Cell 1991 64 365 380 1703046 

  28. Vassar R Rosenberg M Ross S Tyner A Fuchs E Tissue-specific and differentiation-specific expression of a human K14 keratin gene in transgenic mice Proc Natl Acad Sci USA 1989 86 1563 1567 2466292 

  29. Werner NS Windoffer R Strnad P Grund C Leube RE Magin TM Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits Mol Biol Cell 2004 15 990 1002 14668478 

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