Literature DB >> 7506606

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

M A Chen1, J M Bonifas, K Matsumura, A Blumenfeld, E H Epstein.   

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Year:  1993        PMID： 7506606     DOI： 10.1093/hmg/2.11.1971

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

Review 1.  Diseases of epidermal keratins and their linker proteins.

Authors:  Jouni Uitto; Gabriele Richard; John A McGrath
Journal:  Exp Cell Res       Date:  2007-04-24       Impact factor: 3.905

2.  Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Authors:  Haris Mirza; Anil Kumar; Brittany G Craiglow; Jing Zhou; Corey Saraceni; Richard Torbeck; Bruce Ragsdale; Paul Rehder; Annamari Ranki; Keith A Choate
Journal:  J Invest Dermatol       Date:  2015-06-15       Impact factor: 8.551

Review 3.  Keratin gene mutations in human skin disease.

Authors:  H P Stevens; M H Rustin
Journal:  Postgrad Med J       Date:  1994-11       Impact factor: 2.401

4.  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

Review 5.  Defective protein degradation in genetic disorders.

Authors:  Pau Castel
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2022-02-11       Impact factor: 5.187

Review 6.  The molecular basis for inherited bullous diseases.

Authors:  B P Korge; T Krieg
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599

7.  A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

Authors:  M K Yoon; J F Warren; D S Holsclaw; D C Gritz; T P Margolis
Journal:  Br J Ophthalmol       Date:  2004-06       Impact factor: 4.638

Review 8.  Intermediate filaments and disease: mutations that cripple cell strength.

Authors:  E Fuchs
Journal:  J Cell Biol       Date:  1994-05       Impact factor: 10.539

9.  A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Authors:  Lori S Sullivan; Eric B Baylin; Ramon Font; Stephen P Daiger; Jay S Pepose; Thomas E Clinch; Hisashi Nakamura; Xinping C Zhao; Richard W Yee
Journal:  Mol Vis       Date:  2007-06-21       Impact factor: 2.367
  9 in total

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