Punctate palmoplantar keratoderma type 1 with a novelAAGABframeshift mutation: intrafamilial phenotype variation due to ageing-Reference-Cited by-同舟云学术

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Punctate palmoplantar keratoderma type 1 with a novelAAGABframeshift mutation: intrafamilial phenotype variation due to ageing

Published:2016-09-12 Issue:3 Volume:31 Page:e175-e176
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Kono M.¹,Fukai K.²,Shimizu N.²,Nagao J.³,Takeichi T.¹,Tsuruta D.²,Sugiura K.¹,Akiyama M.¹

Affiliation:

1. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan

2. Department of Dermatology; Osaka City University Graduate School of Medicine; Osaka Japan

3. Division of Dermatology; Izumiotsu Municipal Hospital; Izumiotsu Japan

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13906/fullpdf

Reference6 articles.

1. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma;Pohler;Nat Genet,2012

2. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer;Giehl;Am J Hum Genet,2012

3. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability;Giehl;Acta Derm Venereol,2016

4. Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: case report and review of the published work;Nomura;J Dermatol,2015

5. Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA;Akasaka;J Dermatol Sci,2015

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. Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly;Proceedings of the National Academy of Sciences;2023-01-04

2. Oligomer-to-Monomer Transition Underlies the Chaperone Function of AAGAB in AP1/AP2 Assembly;2022-03-12

3. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03

4. AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors;Journal of Cell Science;2021-10-01

5. Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations;The Journal of Dermatology;2021-09-17

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