Literature DB >> 27283508

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

Shotaro Suzuki1, Toshifumi Nomura2, Toshinari Miyauchi1, Masae Takeda1, Hideki Nakamura1, Satoru Shinkuma1, Yasuyuki Fujita1, Masashi Akiyama3, Hiroshi Shimizu1.   

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Year:  2016        PMID： 27283508     DOI： 10.1016/j.jid.2016.05.109

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


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  10 in total

Review 1.  Mosaicism in Cutaneous Disorders.

Authors:  Young H Lim; Zoe Moscato; Keith A Choate
Journal:  Annu Rev Genet       Date:  2017-11-27       Impact factor: 16.830

2.  Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

Authors:  Toshifumi Nomura; Shotaro Suzuki; Toshinari Miyauchi; Masae Takeda; Satoru Shinkuma; Yasuyuki Fujita; Wataru Nishie; Masashi Akiyama; Hiroshi Shimizu
Journal:  JCI Insight       Date:  2018-03-22

Review 3.  Revertant mosaicism in genodermatoses.

Authors:  Young H Lim; Jonathan M Fisher; Keith A Choate
Journal:  Cell Mol Life Sci       Date:  2017-02-06       Impact factor: 9.261

4.  Expanding the Mutation Spectrum of Ichthyosis with Confetti.

Authors:  Young H Lim; Keith A Choate
Journal:  J Invest Dermatol       Date:  2016-10       Impact factor: 8.551

5.  Recurrent KRT10 Variant in Ichthyosis with Confetti.

Authors:  Takuya Takeichi; Yasushi Suga; Takashi Mizuno; Yusuke Okuno; Daisuke Ichikawa; Michihiro Kono; John Y W Lee; John A McGrath; Masashi Akiyama
Journal:  Acta Derm Venereol       Date:  2020-07-02       Impact factor: 3.875

6.  Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Authors:  Shotaro Suzuki; Toshifumi Nomura; Toshinari Miyauchi; Masae Takeda; Yasuyuki Fujita; Wataru Nishie; Masashi Akiyama; Akemi Ishida-Yamamoto; Hiroshi Shimizu
Journal:  Life Sci Alliance       Date:  2019-02-04

7.  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 8.  Epigenetic and metabolic regulation of epidermal homeostasis.

Authors:  Roland N Wagner; Josefina Piñón Hofbauer; Verena Wally; Barbara Kofler; Matthias Schmuth; Laura De Rosa; Michele De Luca; Johann W Bauer
Journal:  Exp Dermatol       Date:  2021-03-10       Impact factor: 3.960

Review 9.  A six-attribute classification of genetic mosaicism.

Authors:  Luis A Pérez-Jurado; Víctor L Ruiz Pérez; Antonio Torrelo; Nancy B Spinner; Rudolf Happle; Leslie G Biesecker; Pablo Lapunzina; Víctor Martínez-Glez; Jair Tenorio; Julián Nevado; Gema Gordo; Lara Rodríguez-Laguna; Marta Feito; Raúl de Lucas
Journal:  Genet Med       Date:  2020-07-14       Impact factor: 8.864

Review 10.  Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.

Authors:  Tobias Welponer; Christine Prodinger; Josefina Pinon-Hofbauer; Arno Hintersteininger; Hannelore Breitenbach-Koller; Johann W Bauer; Martin Laimer
Journal:  Dermatol Ther (Heidelb)       Date:  2021-06-10
  10 in total

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