Literature DB >> 1281858

Genetic skin disorders of keratin.

E Fuchs1.   

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Year:  1992        PMID： 1281858     DOI： 10.1111/1523-1747.ep12613737

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  10 in total

1.  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

Review 2.  Intermediate filaments as dynamic structures.

Authors:  M W Klymkowsky
Journal:  Cancer Metastasis Rev       Date:  1996-12       Impact factor: 9.264

3.  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

Review 4.  Cultivation of human keratinocyte stem cells: current and future clinical applications.

Authors:  G Pellegrini; S Bondanza; L Guerra; M De Luca
Journal:  Med Biol Eng Comput       Date:  1998-11       Impact factor: 2.602

5.  Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

Authors:  J A McGrath; B Gatalica; K Li; M G Dunnill; J R McMillan; A M Christiano; R A Eady; J Uitto
Journal:  Am J Pathol       Date:  1996-06       Impact factor: 4.307

6.  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

7.  Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Authors:  H C Hennies; D Zehender; J Kunze; W Küster; A Reis
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

8.  Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

Authors:  A M Christiano; Y Suga; D S Greenspan; H Ogawa; J Uitto
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

9.  Genetic differences among ethnic groups.

Authors:  Tao Huang; Yang Shu; Yu-Dong Cai
Journal:  BMC Genomics       Date:  2015-12-21       Impact factor: 3.969

10.  Growth, lifetime, directional movement and myosin-dependent motility of mutant keratin granules in cultured cells.

Authors:  S M Lehmann; R E Leube; R Windoffer
Journal:  Sci Rep       Date:  2021-01-27       Impact factor: 4.379
  10 in total

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