Literature DB >> 16614722

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping, Jürgen Kohlhase, Leena Bruckner-Tuderman.   

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Year:  2006        PMID： 16614722     DOI： 10.1038/sj.jid.5700312

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


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  5 in total

1.  Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.

Authors:  Maija Kiuru; Mazen Kurban; Munenari Itoh; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Angela M Christiano
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

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.  Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Authors:  Jennie Lugassy; Peter Itin; Akemi Ishida-Yamamoto; Kristen Holland; Susan Huson; Dan Geiger; Hans Christian Hennies; Margarita Indelman; Dani Bercovich; Jouni Uitto; Reuven Bergman; John A McGrath; Gabriele Richard; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2006-08-25       Impact factor: 11.025

Review 4.  The molecular basis of human keratin disorders.

Authors:  Meral Julia Arin
Journal:  Hum Genet       Date:  2009-02-27       Impact factor: 4.132

Review 5.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27
  5 in total

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