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Mutations in IL36RN in patients with generalized pustular psoriasis.

作者信息

Körber Andreas, Mössner Rotraut, Renner Regina, Sticht Heinrich, Wilsmann-Theis Dagmar, Schulz Peter, Sticherling Michael, Traupe Heiko, Hüffmeier Ulrike

机构信息

Department of Dermatology, University of Essen, Essen, Germany.

Department of Dermatology, University of Göttingen, Göttingen, Germany.

出版信息

J Invest Dermatol. 2013 Nov;133(11):2634-2637. doi: 10.1038/jid.2013.214. Epub 2013 May 6.

DOI:10.1038/jid.2013.214
PMID:23648549
Abstract
摘要

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Mutations in IL36RN in patients with generalized pustular psoriasis.泛发性脓疱型银屑病患者IL36RN基因的突变
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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
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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。
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Association of IL36RN mutations with clinical features, therapeutic response to acitretin, and frequency of recurrence in patients with generalized pustular psoriasis.IL36RN突变与泛发性脓疱型银屑病患者的临床特征、阿维A治疗反应及复发频率的相关性
Eur J Dermatol. 2018 Apr 1;28(2):217-224. doi: 10.1684/ejd.2018.3245.
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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.
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The genetic basis for most patients with pustular skin disease remains elusive.大多数脓疱性皮肤病患者的遗传基础仍难以捉摸。
Br J Dermatol. 2018 Mar;178(3):740-748. doi: 10.1111/bjd.15867. Epub 2018 Jan 22.
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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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IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.IL36RN突变影响蛋白质表达和功能：脓疱性疾病中基因型-表型相关性的基础。
J Invest Dermatol. 2016 Sep;136(9):1811-1819. doi: 10.1016/j.jid.2016.04.038. Epub 2016 May 21.
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IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis.两名日本泛发性脓疱型银屑病患者的IL36RN基因分析
Int J Dermatol. 2015 Feb;54(2):e60-2. doi: 10.1111/ijd.12657.
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Homozygous missense mutation in IL36RN in generalized pustular dermatosis with intraoral involvement compatible with both AGEP and generalized pustular psoriasis.伴有口腔受累的泛发性脓疱性皮肤病中IL36RN的纯合错义突变，该疾病与中毒性表皮坏死松解症和泛发性脓疱型银屑病均相符。
JAMA Dermatol. 2015 Apr;151(4):452-3. doi: 10.1001/jamadermatol.2014.3848.

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Genes (Basel). 2023 Jun 20;14(6):1297. doi: 10.3390/genes14061297.
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JID Innov. 2022 Dec 16;3(2):100176. doi: 10.1016/j.xjidi.2022.100176. eCollection 2023 Mar.
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