Literature DB >> 1344657

Molecular biology and pathology of type VII collagen.

J Uitto1, L C Chung-Honet, A M Christiano.   

Abstract

Type VII collagen is a genetically distinct member of the collagen family of proteins. Type VII collagen has been shown to be the major component of anchoring fibrils, attachment complexes which secure the cutaneous basement membrane of the skin to the underlying dermis. Understanding of the structure of type VII collagen has been advanced by recent cloning of the corresponding gene. Chromosomal mapping of the gene to the short arm of chromosome 3 and identification of intragenic polymorphic markers have allowed demonstration of strong genetic linkage between the type VII collagen locus and the dystrophic forms of EB (epidermolysis bullosa). This overview summarizes the progress made in the molecular genetics of type VII collagen.

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Year:  1992        PMID: 1344657     DOI: 10.1111/j.1600-0625.1992.tb00065.x

Source DB:  PubMed          Journal:  Exp Dermatol        ISSN: 0906-6705            Impact factor:   3.960


  15 in total

Review 1.  Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

Authors:  J Uitto; A M Christiano
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

2.  COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Authors:  Daisuke Sawamura; Kazuko Sato-Matsumura; Satoko Shibata; Akari Tashiro; Masutaka Furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu
Journal:  J Hum Genet       Date:  2006-03-24       Impact factor: 3.172

Review 3.  Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.

Authors:  J Uitto; A M Christiano
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

4.  Expression of laminin, type IV procollagen and 230 kDa bullous pemphigoid antigen genes by keratinocytes and fibroblasts in culture: application of the polymerase chain reaction for detection of small amounts of messenger RNA.

Authors:  K Nomura; T Sugawara; T Sato; D Sawamura; I Hashimoto; Y Sugita; J Uitto
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

Review 5.  The genetics of human skin disease.

Authors:  Gina M DeStefano; Angela M Christiano
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

6.  Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.

Authors:  David T Woodley; Yingping Hou; Sabrina Martin; Wei Li; Mei Chen
Journal:  J Biol Chem       Date:  2008-04-30       Impact factor: 5.157

7.  Expression of type VII collagen, the major anchoring fibril component, in normal and neoplastic human nervous system.

Authors:  W Paulus; I Baur; U Liszka; M Drlicek; I Leigh; L Bruckner-Tuderman
Journal:  Virchows Arch       Date:  1995       Impact factor: 4.064

8.  Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa.

Authors:  J C Lapiere; D T Woodley; M G Parente; T Iwasaki; K C Wynn; A M Christiano; J Uitto
Journal:  J Clin Invest       Date:  1993-10       Impact factor: 14.808

9.  Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.

Authors:  Takenao Chino; Katsuto Tamai; Takehiko Yamazaki; Satoru Otsuru; Yasushi Kikuchi; Keisuke Nimura; Masayuki Endo; Miki Nagai; Jouni Uitto; Yasuo Kitajima; Yasufumi Kaneda
Journal:  Am J Pathol       Date:  2008-08-07       Impact factor: 4.307

10.  Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.

Authors:  Kei Ito; Daisuke Sawamura; Maki Goto; Hideki Nakamura; Wataru Nishie; Kaori Sakai; Ken Natsuga; Satoru Shinkuma; Akihiko Shibaki; Jouni Uitto; Christopher P Denton; Osamu Nakajima; Masashi Akiyama; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2009-11-05       Impact factor: 4.307

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