Literature DB >> 32556352

Recurrent KRT10 Variant in Ichthyosis with Confetti.

Takuya Takeichi1, Yasushi Suga, Takashi Mizuno, Yusuke Okuno, Daisuke Ichikawa, Michihiro Kono, John Y W Lee, John A McGrath, Masashi Akiyama.   

Abstract

Entities:  

Keywords:  ichthyosis with confetti; malignant melanoma; epidermolytic ichthyosis

Mesh：

Substances：

Year:  2020        PMID： 32556352      PMCID： PMC9199913          DOI： 10.2340/00015555-3570

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  14 in total

Review 1.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:  Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice Van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Journal:  J Am Acad Dermatol       Date:  2010-10       Impact factor: 11.527

2.  Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.

Authors:  Takuya Takeichi; Kazumitsu Sugiura; Kazuyuki Matsuda; Michihiro Kono; Masashi Akiyama
Journal:  J Dermatol Sci       Date:  2012-11-14       Impact factor: 4.563

3.  Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1.

Authors:  Shotaro Suzuki; Toshifumi Nomura; Toshinari Miyauchi; Masae Takeda; Hideki Nakamura; Satoru Shinkuma; Yasuyuki Fujita; Masashi Akiyama; Hiroshi Shimizu
Journal:  J Invest Dermatol       Date:  2016-06-07       Impact factor: 8.551

4.  Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal:  Science       Date:  2010-08-26       Impact factor: 47.728

5.  Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Peter M Elias; Samir Zaidi; Amy S Paller; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Leonard M Milstone; Richard P Lifton
Journal:  J Clin Invest       Date:  2015-03-16       Impact factor: 14.808

6.  The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.

Authors:  Iris Spoerri; Michela Brena; Julie De Mesmaeker; Nina Schlipf; Judith Fischer; Gianluca Tadini; Peter H Itin; Bettina Burger
Journal:  JAMA Dermatol       Date:  2015-01       Impact factor: 10.282

Review 7.  Inherited ichthyosis: Non-syndromic forms.

Authors:  Takuya Takeichi; Masashi Akiyama
Journal:  J Dermatol       Date:  2016-03       Impact factor: 4.005

8.  Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Authors:  Alrun Hotz; Vinzenz Oji; Emmanuelle Bourrat; Nathalie Jonca; Juliette Mazereeuw-Hautier; Regina C Betz; Ulrike Blume-Peytavi; Karola Stieler; Fanny Morice-Picard; Ines Schönbuchner; Susanne Markus; Nina Schlipf; Judith Fischer
Journal:  Acta Derm Venereol       Date:  2016-05       Impact factor: 4.437

9.  Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Authors:  Patricia Renz; Elias Imahorn; Iris Spoerri; Magomet Aushev; Oliver P March; Hedwig Wariwoda; Sarah Von Arb; Andreas Volz; Peter H Itin; Julia Reichelt; Bettina Burger
Journal:  J Cell Mol Med       Date:  2019-10-22       Impact factor: 5.310

Review 10.  Ichthyosis with confetti: clinics, molecular genetics and management.

Authors:  Liliana Guerra; Andrea Diociaiuti; May El Hachem; Daniele Castiglia; Giovanna Zambruno
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123
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