Literature DB >> 18704110

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.

Annamária Glász-Bóna, Márta Medvecz, Rachel Sajó, Réka Lepesi-Benko, Zsolt Tulassay, Mária Katona, Zsófia Hatvani, Antal Blazsek, Sarolta Kárpáti.   

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Year:  2008        PMID： 18704110     DOI： 10.1038/jid.2008.223

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


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  6 in total

1.  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 2.  Keratin gene mutations in disorders of human skin and its appendages.

Authors:  Jean Christopher Chamcheu; Imtiaz A Siddiqui; Deeba N Syed; Vaqar M Adhami; Mirjana Liovic; Hasan Mukhtar
Journal:  Arch Biochem Biophys       Date:  2010-12-19       Impact factor: 4.013

3.  Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Authors:  K Wertheim-Tysarowska; M Ołdak; A Giza; A Kutkowska-Kaźmierczak; J Sota; D Przybylska; K Woźniak; D Śniegórska; K Niepokój; A Sobczyńska-Tomaszewska; A M Rygiel; R Płoski; J Bal; C Kowalewski
Journal:  J Appl Genet       Date:  2015-10-02       Impact factor: 3.240

4.  Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Authors:  Tamilselvi Elango; Jingying Sun; Caihong Zhu; Fusheng Zhou; Yaohua Zhang; Liangdan Sun; Sen Yang; Xuejun Zhang
Journal:  Hum Genomics       Date:  2018-05-21       Impact factor: 4.639

5.  A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

Authors:  Xin Jiang; Yingyu Zhu; Huihui Sun; Feng Gu
Journal:  Ann Dermatol       Date:  2020-12-30       Impact factor: 1.444

6.  Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases.

Authors:  Thomas Kocher; Patricia Peking; Alfred Klausegger; Eva Maria Murauer; Josefina Piñón Hofbauer; Verena Wally; Thomas Lettner; Stefan Hainzl; Michael Ablinger; Johann Wolfgang Bauer; Julia Reichelt; Ulrich Koller
Journal:  Mol Ther       Date:  2017-08-24       Impact factor: 11.454
  6 in total

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