Literature DB >> 1381721

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

J Uitto1, A M Christiano.   

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Year:  1992        PMID: 1381721      PMCID: PMC329917          DOI: 10.1172/JCI115938

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


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  37 in total

Review 1.  Pemphigus and pemphigoid as paradigms of organ-specific, autoantibody-mediated diseases.

Authors:  J R Stanley
Journal:  J Clin Invest       Date:  1989-05       Impact factor: 14.808

2.  Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.

Authors:  J M Bonifas; A L Rothman; E H Epstein
Journal:  Science       Date:  1991-11-22       Impact factor: 47.728

3.  Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Authors:  M Ryynänen; R G Knowlton; J Uitto
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

Review 4.  Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.

Authors:  D J Prockop
Journal:  N Engl J Med       Date:  1992-02-20       Impact factor: 91.245

5.  Collagenase in recessive dystrophic epidermolysis bullosa.

Authors:  E A Bauer
Journal:  Ann N Y Acad Sci       Date:  1985       Impact factor: 5.691

6.  The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid.

Authors:  P Verrando; A Pisani; J P Ortonne
Journal:  Biochim Biophys Acta       Date:  1988-07-07

7.  Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains.

Authors:  D Sawamura; K Li; M L Chu; J Uitto
Journal:  J Biol Chem       Date:  1991-09-25       Impact factor: 5.157

8.  Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Authors:  P A Coulombe; M E Hutton; A Letai; A Hebert; A S Paller; E Fuchs
Journal:  Cell       Date:  1991-09-20       Impact factor: 41.582

9.  Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease.

Authors:  R Vassar; P A Coulombe; L Degenstein; K Albers; E Fuchs
Journal:  Cell       Date:  1991-01-25       Impact factor: 41.582

10.  Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium.

Authors:  K H Li; D Sawamura; G J Giudice; L A Diaz; M G Mattei; M L Chu; J Uitto
Journal:  J Biol Chem       Date:  1991-12-15       Impact factor: 5.157

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  30 in total

1.  Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.

Authors:  Jon Cogan; Jacqueline Weinstein; Xinyi Wang; Yingping Hou; Sabrina Martin; Andrew P South; David T Woodley; Mei Chen
Journal:  Mol Ther       Date:  2014-07-23       Impact factor: 11.454

Review 2.  Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.

Authors:  R A Eady; M G Dunnill
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

3.  Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

Authors:  L Pulkkinen; D U Kim; J Uitto
Journal:  Am J Pathol       Date:  1998-01       Impact factor: 4.307

4.  Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

Authors:  A M Christiano; S LaForgia; A S Paller; J McGuire; H Shimizu; J Uitto
Journal:  Mol Med       Date:  1996-01       Impact factor: 6.354

5.  Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

Authors:  B Gatalica; L Pulkkinen; K Li; K Kuokkanen; M Ryynänen; J A McGrath; J Uitto
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

6.  Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.

Authors:  J L Arbiser; J D Fine; D Murrell; A Paller; S Connors; K Keough; E Marsh; J Folkman
Journal:  Mol Med       Date:  1998-03       Impact factor: 6.354

7.  Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.

Authors:  Jakub Tolar; Akemi Ishida-Yamamoto; Megan Riddle; Ron T McElmurry; Mark Osborn; Lily Xia; Troy Lund; Catherine Slattery; Jouni Uitto; Angela M Christiano; John E Wagner; Bruce R Blazar
Journal:  Blood       Date:  2008-10-27       Impact factor: 22.113

8.  Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

Authors:  A M Christiano; M Ryynänen; J Uitto
Journal:  Proc Natl Acad Sci U S A       Date:  1994-04-26       Impact factor: 11.205

9.  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

10.  Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure.

Authors:  Xinyi Wang; Pedram Ghasri; Mahsa Amir; Brian Hwang; Yingpin Hou; Michael Khalili; Michael Khilili; Andrew Lin; Douglas Keene; Jouni Uitto; David T Woodley; Mei Chen
Journal:  Mol Ther       Date:  2013-05-14       Impact factor: 11.454

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