King's College London

Research portal

Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

Research output: Contribution to journalArticle

Standard

Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. / Abdul-Wahab, A; Takeichi, T; Liu, L; Lomas, D; Hughes, B; Akiyama, M; McGrath, J A; Mellerio, J E.

In: British Journal of Dermatology, 12.11.2015.

Research output: Contribution to journalArticle

Harvard

Abdul-Wahab, A, Takeichi, T, Liu, L, Lomas, D, Hughes, B, Akiyama, M, McGrath, JA & Mellerio, JE 2015, 'Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5', British Journal of Dermatology. https://doi.org/10.1111/bjd.13931

APA

Abdul-Wahab, A., Takeichi, T., Liu, L., Lomas, D., Hughes, B., Akiyama, M., McGrath, J. A., & Mellerio, J. E. (2015). Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. British Journal of Dermatology. https://doi.org/10.1111/bjd.13931

Vancouver

Abdul-Wahab A, Takeichi T, Liu L, Lomas D, Hughes B, Akiyama M et al. Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. British Journal of Dermatology. 2015 Nov 12. https://doi.org/10.1111/bjd.13931

Author

Abdul-Wahab, A ; Takeichi, T ; Liu, L ; Lomas, D ; Hughes, B ; Akiyama, M ; McGrath, J A ; Mellerio, J E. / Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. In: British Journal of Dermatology. 2015.

Bibtex Download

@article{4ec6d933370c465db44d0fd5b12ee150,
title = "Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5",
abstract = "Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) is a clinically and genetically heterogeneous disorder, one form of which is associated with a whitish spongy appearance upon immersion in water (MIM 600231). Using linkage data in combination with whole-exome sequencing in families with NEPPK, heterozygosity for 5 different missense mutations in AQP5 (encoding aquaporin-5) was identified recently in affected members of 7 Swedish families, 3 British families, and a Scottish family.(1,2) All the mutations segregated with disease in the respective families and were not found in the dbSNP or 1000 Genomes Project databases. A further gain-of-function mutation in AQP5 was subsequently reported in a large NEPPK pedigree of Chinese Han descent.(3) This article is protected by copyright. All rights reserved.",
author = "A Abdul-Wahab and T Takeichi and L Liu and D Lomas and B Hughes and M Akiyama and McGrath, {J A} and Mellerio, {J E}",
note = "This article is protected by copyright. All rights reserved.",
year = "2015",
month = nov,
day = "12",
doi = "10.1111/bjd.13931",
language = "English",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "John Wiley & Sons, Ltd (10.1111)",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

AU - Abdul-Wahab, A

AU - Takeichi, T

AU - Liu, L

AU - Lomas, D

AU - Hughes, B

AU - Akiyama, M

AU - McGrath, J A

AU - Mellerio, J E

N1 - This article is protected by copyright. All rights reserved.

PY - 2015/11/12

Y1 - 2015/11/12

N2 - Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) is a clinically and genetically heterogeneous disorder, one form of which is associated with a whitish spongy appearance upon immersion in water (MIM 600231). Using linkage data in combination with whole-exome sequencing in families with NEPPK, heterozygosity for 5 different missense mutations in AQP5 (encoding aquaporin-5) was identified recently in affected members of 7 Swedish families, 3 British families, and a Scottish family.(1,2) All the mutations segregated with disease in the respective families and were not found in the dbSNP or 1000 Genomes Project databases. A further gain-of-function mutation in AQP5 was subsequently reported in a large NEPPK pedigree of Chinese Han descent.(3) This article is protected by copyright. All rights reserved.

AB - Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) is a clinically and genetically heterogeneous disorder, one form of which is associated with a whitish spongy appearance upon immersion in water (MIM 600231). Using linkage data in combination with whole-exome sequencing in families with NEPPK, heterozygosity for 5 different missense mutations in AQP5 (encoding aquaporin-5) was identified recently in affected members of 7 Swedish families, 3 British families, and a Scottish family.(1,2) All the mutations segregated with disease in the respective families and were not found in the dbSNP or 1000 Genomes Project databases. A further gain-of-function mutation in AQP5 was subsequently reported in a large NEPPK pedigree of Chinese Han descent.(3) This article is protected by copyright. All rights reserved.

U2 - 10.1111/bjd.13931

DO - 10.1111/bjd.13931

M3 - Article

C2 - 26032342

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

ER -

View graph of relations

© 2018 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454