Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1-Reference-Cited by-同舟云学术

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

Published:2016-10 Issue:10 Volume:136 Page:2093-2095
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Suzuki Shotaro,Nomura Toshifumi,Miyauchi Toshinari,Takeda Masae,Nakamura Hideki,Shinkuma Satoru,Fujita Yasuyuki,Akiyama Masashi,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference4 articles.

1. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10;Choate;Science,2010

2. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti;Choate;J Clin Invest,2015

3. Ichthyosis with confetti: clinics, molecular genetics and management;Guerra;Orphanet J Rare Dis,2015

4. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan;Nomura;J Invest Dermatol,2008

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1. Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin;British Journal of Dermatology;2024-05-13

2. Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes;Biomedicines;2022-08-29

3. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03

4. Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa;Dermatology and Therapy;2021-06-10

5. Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism;The American Journal of Human Genetics;2021-06

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