K
Katsushi Owaribe
Researcher at Nagoya University
Publications - 70
Citations - 4384
Katsushi Owaribe is an academic researcher from Nagoya University. The author has contributed to research in topics: Hemidesmosome & Plectin. The author has an hindex of 34, co-authored 70 publications receiving 4241 citations. Previous affiliations of Katsushi Owaribe include Aichi Medical University & Gifu University.
Papers
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Journal ArticleDOI
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Fjd Smith,Robin A.J. Eady,Irene M. Leigh,James R. McMillan,E.L. Rugg,David P. Kelsell,Stephen P. Bryant,Nigel K. Spurr,J.F. Geddes,G. Kirtschig,G. Milana,A.G. de Bono,Katsushi Owaribe,Gerhard Wiche,Leena Pulkkinen,Jouni Uitto,Whi McLean,E. B. Lane +17 more
TL;DR: It is reported that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering associated withepidermolysis bullosa simplex.
Journal ArticleDOI
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
John A. McGrath,B. Gatalica,Angela M. Christiano,Kehua Li,Katsushi Owaribe,McMillan,Robin A.J. Eady,Jouni Uitto,Jouni Uitto +8 more
TL;DR: The first mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) are described, a transmembranous hemidesmosomal collagen, also known as type XVII collagen (COL17A1)8, a rare variant of JEB, and isacompound heterozygote for premature termination codons on both alleles are described.
Journal ArticleDOI
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Whi McLean,Leena Pulkkinen,Fjd Smith,E.L. Rugg,E. B. Lane,F. Bullrich,Robert E. Burgeson,Satoshi Amano,David L. Hudson,Katsushi Owaribe,John A. McGrath,James R. McMillan,R. A. J. Eady,Irene M. Leigh,Angela M. Christiano,Jouni Uitto +15 more
TL;DR: The molecular basis of MD-EBS in this family is established and the important structural role for plectin in cytoskeleton-membrane adherence in both skin and muscle is clearly demonstrated.
Journal ArticleDOI
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
Marcel F. Jonkman,Hans Scheffer,Rein P. Stulp,Hendri H. Pas,Miranda Nijenhuis,K Heeres,Katsushi Owaribe,Leena Pulkkinen,Jouni Uitto +8 more
TL;DR: It is reported here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles.
Journal ArticleDOI
Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes.
TL;DR: In cultured keratinocytes, HD1 demonstrated colocalization with BP antigen in the precise way, while being absent from focal adhesions, and Immunoelectron microscopy revealed that an epitope of HD1 was located on the cytoplasmic side of HDs.