Literature DB >> 7522672

Keratin diseases.

E B Lane1.   

Abstract

The recent discovery that epidermal fragility syndromes can be caused by mutations in the genes for keratin intermediate filaments has been a turning point for research into these structural proteins. Clustering of pathogenic mutations implies differential structural sensitivity along the keratin molecule, and implications for filament function require a new look at culture assay systems, plus a reassessment of structural defects in epithelial and other tissues.

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Year:  1994        PMID： 7522672     DOI： 10.1016/0959-437x(94)90030-2

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  10 in total

Review 1.  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

Review 2.  Oncogenic regulation and function of keratins 8 and 18.

Authors:  R G Oshima; H Baribault; C Caulín
Journal:  Cancer Metastasis Rev       Date:  1996-12       Impact factor: 9.264

3.  Hepatocyte cytokeratins are hyperphosphorylated at multiple sites in human alcoholic hepatitis and in a mallory body mouse model.

Authors:  C Stumptner; M B Omary; P Fickert; H Denk; K Zatloukal
Journal:  Am J Pathol       Date:  2000-01       Impact factor: 4.307

4.  A new mutation Rim3 resembling Re(den) is mapped close to retinoic acid receptor alpha (Rara) gene on mouse chromosome 11.

Authors:  H Sato; T Koide; H Masuya; S Wakana; T Sagai; A Umezawa; S Ishiguro; M Tamai; T Shiroishi; M Tama
Journal:  Mamm Genome       Date:  1998-01       Impact factor: 2.957

5.  Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

Authors:  K Nishida; Y Honma; A Dota; S Kawasaki; W Adachi; T Nakamura; A J Quantock; H Hosotani; S Yamamoto; M Okada; Y Shimomura; S Kinoshita
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

Authors:  H Hassan; C Thaung; N D Ebenezer; G Larkin; A J Hardcastle; S J Tuft
Journal:  Eye (Lond)       Date:  2012-12-07       Impact factor: 3.775

7.  Altered distribution of keratinization markers in epidermolytic hyperkeratosis.

Authors:  A Ishida-Yamamoto; H Iizuka; M Manabe; W M O'Guin; D Hohl; T Kartasova; T Kuroki; D R Roop; R A Eady
Journal:  Arch Dermatol Res       Date:  1995       Impact factor: 3.017

8.  Novel function of keratins 5 and 14 in proliferation and differentiation of stratified epithelial cells.

Authors:  Hunain Alam; Lalit Sehgal; Samrat T Kundu; Sorab N Dalal; Milind M Vaidya
Journal:  Mol Biol Cell       Date:  2011-09-07       Impact factor: 4.138

9.  Detrimental Effects of IFN-γ on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti-IFN-γ Monoclonal Antibody.

Authors:  Cedric Badowski; Tong San Tan; Teimur Aliev; David Trudil; Maria Larina; Viсtoria Argentova; Muhammad Jasrie Firdaus; Paula Benny; Vivien S T Woo; E Birgitte Lane
Journal:  JID Innov       Date:  2022-01-13

10.  Keratin 14 is a novel interaction partner of keratinocyte differentiation regulator: receptor-interacting protein kinase 4.

Authors:  Ceren Sümer; Asiye Büşra Boz Er; Tuba Dinçer
Journal:  Turk J Biol       Date:  2019-08-05
  10 in total

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