Literature DB >> 23867895

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Xu Cao1, Jinghua Yin2, Huijun Wang2, Jiahui Zhao2, Jie Zhang2, Lanlan Dai3, Jianguo Zhang3, Hui Jiang3, Zhimiao Lin4, Yong Yang1.   

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Year:  2013        PMID： 23867895     DOI： 10.1038/jid.2013.302

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  13 in total

1.  Immunolocalization of aquaporin-5 in normal human skin and hypohidrotic skin diseases.

Authors:  Takashi Iizuka; Takao Suzuki; Kiyoko Nakano; Hirohiko Sueki
Journal:  J Dermatol       Date:  2011-09-28       Impact factor: 4.005

2.  Identification and characterization of a novel human vanilloid receptor-like protein, VRL-2.

Authors:  N S Delany; M Hurle; P Facer; T Alnadaf; C Plumpton; I Kinghorn; C G See; M Costigan; P Anand; C J Woolf; D Crowther; P Sanseau; S N Tate
Journal:  Physiol Genomics       Date:  2001-01-19       Impact factor: 3.107

3.  The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

Authors:  L Lind; A Lundström; P A Hofer; G Holmgren
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

4.  A role for AQP5 in activation of TRPV4 by hypotonicity: concerted involvement of AQP5 and TRPV4 in regulation of cell volume recovery.

Authors:  Xibao Liu; Bidhan C Bandyopadhyay; Bidhan Bandyopadhyay; Tetsuji Nakamoto; Brij Singh; Wolfgang Liedtke; James E Melvin; Indu Ambudkar
Journal:  J Biol Chem       Date:  2006-03-29       Impact factor: 5.157

5.  Localization of aquaporin-5 in sweat glands and functional analysis using knockout mice.

Authors:  Yuanlin Song; Nitin Sonawane; A S Verkman
Journal:  J Physiol       Date:  2002-06-01       Impact factor: 5.182

6.  Functional requirement of aquaporin-5 in plasma membranes of sweat glands.

Authors:  Lene N Nejsum; Tae-Hwan Kwon; Uffe B Jensen; Ornella Fumagalli; Jørgen Frøkiaer; Carissa M Krane; Anil G Menon; Landon S King; Peter C Agre; Søren Nielsen
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

7.  A TRPV4 channel C-terminal folding recognition domain critical for trafficking and function.

Authors:  Lei Lei; Xu Cao; Fan Yang; Di-Jing Shi; Yi-Quan Tang; Jie Zheng; KeWei Wang
Journal:  J Biol Chem       Date:  2013-03-02       Impact factor: 5.157

8.  Aberrant aquaporin 5 expression in the sweat gland in aquagenic wrinkling of the palms.

Authors:  Kenji Kabashima; Takatoshi Shimauchi; Miwa Kobayashi; Shoko Fukamachi; Chika Kawakami; Makiko Ogata; Rieko Kabashima; Tomoko Mori; Tomoko Ota; Satoshi Fukushima; Mariko Hara-Chikuma; Yoshiki Tokura
Journal:  J Am Acad Dermatol       Date:  2008-08       Impact factor: 11.527

9.  Topiramate reduced sweat secretion and aquaporin-5 expression in sweat glands of mice.

Authors:  Lei Ma; Yuan-Gui Huang; Yan-Chun Deng; Ji-Yu Tian; Zhi-Ren Rao; Hong-Lei Che; Hai-Feng Zhang; Gang Zhao
Journal:  Life Sci       Date:  2007-04-29       Impact factor: 5.037

10.  Heat-evoked activation of the ion channel, TRPV4.

Authors:  Ali Deniz Güler; Hyosang Lee; Tohko Iida; Isao Shimizu; Makoto Tominaga; Michael Caterina
Journal:  J Neurosci       Date:  2002-08-01       Impact factor: 6.167
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  10 in total

1.  Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Authors:  Akiharu Kubo; Aiko Shiohama; Takashi Sasaki; Kazuhiko Nakabayashi; Hiroshi Kawasaki; Toru Atsugi; Showbu Sato; Atsushi Shimizu; Shuji Mikami; Hideaki Tanizaki; Masaki Uchiyama; Tatsuo Maeda; Taisuke Ito; Jun-ichi Sakabe; Toshio Heike; Torayuki Okuyama; Rika Kosaki; Kenjiro Kosaki; Jun Kudoh; Kenichiro Hata; Akihiro Umezawa; Yoshiki Tokura; Akira Ishiko; Hironori Niizeki; Kenji Kabashima; Yoshihiko Mitsuhashi; Masayuki Amagai
Journal:  Am J Hum Genet       Date:  2013-10-24       Impact factor: 11.025

Review 2.  Defective channels lead to an impaired skin barrier.

Authors:  Diana C Blaydon; David P Kelsell
Journal:  J Cell Sci       Date:  2014-09-01       Impact factor: 5.285

Review 3.  Aquaporins: important but elusive drug targets.

Authors:  Alan S Verkman; Marc O Anderson; Marios C Papadopoulos
Journal:  Nat Rev Drug Discov       Date:  2014-03-14       Impact factor: 84.694

Review 4.  Physiological role of aquaporin 5 in salivary glands.

Authors:  Kazuo Hosoi
Journal:  Pflugers Arch       Date:  2015-11-05       Impact factor: 3.657

Review 5.  Aquaporin-5: from structure to function and dysfunction in cancer.

Authors:  Inês Direito; Ana Madeira; Maria Alexandra Brito; Graça Soveral
Journal:  Cell Mol Life Sci       Date:  2016-02-02       Impact factor: 9.261

6.  Regulation of the perilymphatic-endolymphatic water shunt in the cochlea by membrane translocation of aquaporin-5.

Authors:  A Eckhard; A Dos Santos; W Liu; M Bassiouni; H Arnold; C Gleiser; B Hirt; C Harteneck; M Müller; H Rask-Andersen; H Löwenheim
Journal:  Pflugers Arch       Date:  2015-07-25       Impact factor: 3.657

Review 7.  Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.

Authors:  Chao Huang; Yali Yang; Xingyu Huang; Zongke Zhou
Journal:  Biomed Res Int       Date:  2021-01-27       Impact factor: 3.411

8.  Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Authors:  Olga Shchagina; Valeriy Fedotov; Tatiana Markova; Olga Shatokhina; Oksana Ryzhkova; Tatiana Fedotova; Aleksander Polyakov
Journal:  Int J Mol Sci       Date:  2022-08-24       Impact factor: 6.208

Review 9.  Physiological Cooperation between Aquaporin 5 and TRPV4.

Authors:  Kata Kira Kemény; Eszter Ducza
Journal:  Int J Mol Sci       Date:  2022-10-01       Impact factor: 6.208

10.  The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.

Authors:  Anne Bruun Krøigård; Liv Eline Hetland; Ole Clemmensen; Diana C Blaydon; Jens Michael Hertz; Anette Bygum
Journal:  BMC Dermatol       Date:  2016-06-03
  10 in total

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