Literature DB >> 18795921

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.

G Grimberg1, I Hausser, F B Müller, K Wodecki, C Schaffrath, T Krieg, V Oji, H Traupe, M J Arin.   

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Year:  2008        PMID： 18795921     DOI： 10.1111/j.1365-2133.2008.08831.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  5 in total

1.  Human keratin 1/10-1B tetramer structures reveal a knob-pocket mechanism in intermediate filament assembly.

Authors:  Sherif A Eldirany; Minh Ho; Alexander J Hinbest; Ivan B Lomakin; Christopher G Bunick
Journal:  EMBO J       Date:  2019-04-29       Impact factor: 11.598

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

Review 3.  The molecular basis of human keratin disorders.

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

4.  In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.

Authors:  Santasree Banerjee; Qian Wu; Yuyi Ying; Yanni Li; Matsuyuki Shirota; Dante Neculai; Chen Li
Journal:  Oncotarget       Date:  2016-08-16

5.  Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.

Authors:  Alexander J Hinbest; Sherif A Eldirany; Minh Ho; Christopher G Bunick
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923
  5 in total

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