由KRT1移码突变引起的带有五彩纸屑样改变的鱼鳞病中的回复嵌合体现象。 - Suppr

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

作者信息

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

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

J Invest Dermatol. 2016 Oct;136(10):2093-2095. doi: 10.1016/j.jid.2016.05.109. Epub 2016 Jun 7.

DOI:10.1016/j.jid.2016.05.109

PMID:27283508

Abstract

摘要

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

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

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引用本文的文献

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Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.

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

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Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

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

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

作者信息

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

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

J Invest Dermatol. 2016 Oct;136(10):2093-2095. doi: 10.1016/j.jid.2016.05.109. Epub 2016 Jun 7.

DOI:10.1016/j.jid.2016.05.109

PMID:27283508

Abstract

摘要

相似文献

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

J Invest Dermatol. 2016 Oct;136(10):2093-2095. doi: 10.1016/j.jid.2016.05.109. Epub 2016 Jun 7.

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16.

Expanding the Mutation Spectrum of Ichthyosis with Confetti.

J Invest Dermatol. 2016 Oct;136(10):1941-1943. doi: 10.1016/j.jid.2016.07.005.

Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.

Br J Dermatol. 2024 Aug 14;191(3):397-404. doi: 10.1093/bjd/ljae193.

A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Clin Exp Dermatol. 2020 Aug;45(6):719-721. doi: 10.1111/ced.14193. Epub 2020 Apr 10.

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

Br J Dermatol. 2013 Feb;168(2):456-8. doi: 10.1111/j.1365-2133.2012.11181.x.

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.

J Dermatol Sci. 2020 Apr;98(1):35-40. doi: 10.1016/j.jdermsci.2020.02.005. Epub 2020 Feb 21.

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

Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

Br J Dermatol. 2016 Dec;175(6):1372-1375. doi: 10.1111/bjd.14969. Epub 2016 Oct 23.

Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.

Acta Derm Venereol. 2017 Mar 10;97(3):387-388. doi: 10.2340/00015555-2542.

引用本文的文献

Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.

Biomedicines. 2022 Aug 29;10(9):2118. doi: 10.3390/biomedicines10092118.

Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.

Dermatol Ther (Heidelb). 2021 Aug;11(4):1175-1197. doi: 10.1007/s13555-021-00561-5. Epub 2021 Jun 10.

Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.

Am J Hum Genet. 2021 Jun 3;108(6):1026-1039. doi: 10.1016/j.ajhg.2021.04.021. Epub 2021 May 17.

Epigenetic and metabolic regulation of epidermal homeostasis.

Exp Dermatol. 2021 Aug;30(8):1009-1022. doi: 10.1111/exd.14305. Epub 2021 Mar 10.

A six-attribute classification of genetic mosaicism.

Genet Med. 2020 Nov;22(11):1743-1757. doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14.

Recurrent KRT10 Variant in Ichthyosis with Confetti.

Acta Derm Venereol. 2020 Jul 2;100(14):adv00209. doi: 10.2340/00015555-3570.

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

J Cell Mol Med. 2019 Dec;23(12):8442-8452. doi: 10.1111/jcmm.14727. Epub 2019 Oct 22.

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Life Sci Alliance. 2019 Feb 4;2(1). doi: 10.26508/lsa.201800284. Print 2019 Feb.

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

JCI Insight. 2018 Mar 22;3(6):97595. doi: 10.1172/jci.insight.97595.

Mosaicism in Cutaneous Disorders.

Annu Rev Genet. 2017 Nov 27;51:123-141. doi: 10.1146/annurev-genet-121415-121955.

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

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

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