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A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.

作者信息

Takeichi Takuya, Togawa Yaei, Okuno Yusuke, Taniguchi Rieko, Kono Michihiro, Matsue Hiroyuki, Sugiura Kazumitsu, Akiyama Masashi

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Department of Dermatology, Chiba University Graduate School of Medicine, Japan.

出版信息

J Dermatol Sci. 2017 Jan;85(1):58-60. doi: 10.1016/j.jdermsci.2016.10.009. Epub 2016 Oct 18.

DOI:10.1016/j.jdermsci.2016.10.009
PMID:27802907
Abstract
摘要

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A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.在同胞病例中新发现的IL36RN突变完善了我们针对泛发性脓疱型银屑病的IL36RN突变统计数据。
J Dermatol Sci. 2017 Jan;85(1):58-60. doi: 10.1016/j.jdermsci.2016.10.009. Epub 2016 Oct 18.
2
Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN.92 岁男性 IL36RN 纯合无义突变致泛发性脓疱型银屑病
J Dermatol. 2018 Mar;45(3):326-328. doi: 10.1111/1346-8138.14132. Epub 2017 Dec 7.
3
Case of generalized pustular psoriasis with coexisting mutations in IL36RN and CARD14.伴有IL36RN和CARD14基因共存突变的泛发性脓疱型银屑病病例
J Dermatol. 2019 Oct;46(10):e368-e370. doi: 10.1111/1346-8138.14909. Epub 2019 May 7.
4
Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis.日本泛发性脓疱型银屑病早发患者中新型 IL36RN 突变。
J Dermatol. 2013 Sep;40(9):749-51. doi: 10.1111/1346-8138.12227. Epub 2013 Jul 9.
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The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.泛发性脓疱型银屑病的遗传背景:IL36RN突变和CARD14功能获得性变体。
J Dermatol Sci. 2014 Jun;74(3):187-92. doi: 10.1016/j.jdermsci.2014.02.006. Epub 2014 Mar 5.
6
Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.白细胞介素36受体拮抗剂(IL36RN)突变与中国脓疱型银屑病患者不同临床特征的相关性
Arch Dermatol Res. 2016 Jan;308(1):55-63. doi: 10.1007/s00403-015-1611-x. Epub 2015 Nov 21.
7
Gastrointestinal bleeding with severe mucosal involvement in a patient with generalized pustular psoriasis without IL36RN mutation.一位泛发性脓疱型银屑病患者出现严重黏膜累及的胃肠道出血,且无 IL36RN 突变。
J Dermatol. 2019 Jan;46(1):73-75. doi: 10.1111/1346-8138.14711. Epub 2018 Nov 26.
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An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.一名患有泛发性脓疱型银屑病和地图舌的婴儿存在杂合性IL36RN突变及IgG2缺乏。
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Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations.白细胞介素-17A 拮抗剂治疗无 IL36RN 突变的泛发性脓疱型银屑病患者获得成功。
J Dermatol. 2018 Jul;45(7):850-854. doi: 10.1111/1346-8138.14318. Epub 2018 Apr 14.
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Mutation analysis of IL36RN gene in Japanese patients with palmoplantar pustulosis.日本掌跖脓疱病患者IL36RN基因的突变分析。
J Dermatol. 2017 Jan;44(1):80-83. doi: 10.1111/1346-8138.13551. Epub 2016 Aug 20.

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In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex.
通过对 IL36RN 改变的计算机模拟和体外分析,揭示了白细胞介素-36 受体复合物功能的关键残基。
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Int J Mol Med. 2021 Jun;47(6). doi: 10.3892/ijmm.2021.4951. Epub 2021 May 6.
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