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Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions.

作者信息

Hashimoto T, Teye K, Numata S, Suga Y, Hamada T, Ishii N

机构信息

Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011, Japan.

Department of Dermatology and Allergology, Juntendo University Urayasu Hospital, Urayasu, Chiba, Japan.

出版信息

Clin Exp Dermatol. 2017 Apr;42(3):342-345. doi: 10.1111/ced.13059. Epub 2017 Feb 16.

DOI:10.1111/ced.13059
PMID:28211129
Abstract
摘要

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Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions.SERPINB7突变的检测可将长岛型掌跖角化病与其他伴有掌跖皮损的角化病区分开来。
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Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.长岛型掌跖角化病:一种由丝氨酸蛋白酶抑制剂B7缺乏引起的常见亚洲型疾病。
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Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in .一名中国患者发生进行性长岛型掌跖角化病,伴有反复出现的c.796C>T突变 。 (原文此处不完整,可能缺失了某个基因名称等关键信息)
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Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
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A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.一例由SERPINB7基因突变引起的长岛型掌跖角化病散发病例。
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Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7.由SERPINB7基因复合杂合突变引起的长岛型掌跖角化病。
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Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.
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Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q.
J Dermatol. 2020 Dec;47(12):e453-e454. doi: 10.1111/1346-8138.15603. Epub 2020 Sep 6.

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SERPINB7 Expression Predicts Poor Pancreatic Cancer Survival Upon Gemcitabine Treatment.丝氨酸蛋白酶抑制剂B7(SERPINB7)的表达预示着吉西他滨治疗后胰腺癌患者的生存率较低。
Transl Oncol. 2019 Jan;12(1):15-23. doi: 10.1016/j.tranon.2018.08.019. Epub 2018 Sep 20.