Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5-Reference-Cited by-同舟云学术

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Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5

Published:2018-08-25 Issue:3 Volume:46 Page:e104-e106
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Wada Yoshihiro¹,Kusakabe Minori¹,Nagai Makoto¹,Imai Yasutomo¹^ORCID,Yamanishi Kiyofumi¹^ORCID

Affiliation:

1. Department of Dermatology; Hyogo College of Medicine; Nishinomiya Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/am-pdf/10.1111%2F1346-8138.14621

Reference5 articles.

1. Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT;Itoh;J Dermatol,2015

2. The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13;Lind;Hum Mol Genet,1994

3. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma;Blaydon;Am J Hum Genet,2013

4. Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type;Cao;J Invest Dermatol,2014

5. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features;Rogers;Bioinformatics,2018

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Case of Palmoplantar Keratoderma, Bothnian Type with <i>AQP5 </i>Mutation;The Nishinihon Journal of Dermatology;2024-02-01

2. Aquaporin-5 Dynamic Regulation;International Journal of Molecular Sciences;2023-01-18

3. Aquaporins in Skin;Advances in Experimental Medicine and Biology;2023

4. Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype;Genes;2022-12-14

5. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases;International Journal of Molecular Sciences;2022-08-24

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