Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

被引：8
作者：
Takeichi, T. [1 ]
Tanahashi, K. [1 ]
Taki, T. [1 ]
Kono, M. [1 ]
Sugiura, K. [2 ]
Akiyama, M. [1 ]
机构：
[1] Nagoya Univ, Dept Dermatol, Grad Sch Med, Nagoya, Aichi, Japan
[2] Fujita Hlth Univ, Dept Dermatol, Sch Med, Toyoake, Aichi, Japan
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2017年 / 177卷 / 01期
基金：
日本学术振兴会;
关键词：
C.736T-GREATER-THAN-A; HAIR/HYPOTRICHOSIS; GROWTH; P2Y5;
D O I：
10.1111/bjd.15070
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：290 / 292
页数：3
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  • [1] Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
    Kazantseva, Anastasiya
    Goltsov, Andrey
    Zinchenko, Rena
    Grigorenko, Anastasia P.
    Abrukova, Anna V.
    Moliaka, Yuri K.
    Kirillov, Alexander G.
    Guo, Zhiru
    Lyle, Stephen
    Ginter, Evgeny K.
    [J]. SCIENCE, 2006, 314 (5801) : 982 - 985
  • [2] Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
    Khan, S.
    Habib, R.
    Mir, H.
    Umm-e-Kalsoom
    Naz, G.
    Ayub, M.
    Shafique, S.
    Yamin, T.
    Ali, N.
    Basit, S.
    Wasif, N.
    Naqvi, S. Kamran-ul-Hassan
    Ali, G.
    Wali, A.
    Ansar, M.
    Ahmad, W.
    [J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2011, 36 (06) : 652 - 654
  • [3] Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation
    Kinoshita-Ise, M.
    Kubo, A.
    Sasaki, T.
    Umegaki-Arao, N.
    Amagai, M.
    Ohyama, M.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2017, 176 (01) : 138 - 144
  • [4] G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
    Pasternack, Sandra M.
    von Kuegelgen, Ivar
    Al Aboud, Khalid
    Lee, Young-Ae
    Rueschendorf, Franz
    Voss, Katrin
    Hillmer, Axel M.
    Molderings, Gerhard J.
    Franz, Thomas
    Ramirez, Alfredo
    Nuernberg, Peter
    Noethen, Markus M.
    Betz, Regina C.
    [J]. NATURE GENETICS, 2008, 40 (03) : 329 - 334
  • [5] Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis
    Shimomura, Yutaka
    Wajid, Muhammad
    Petukhova, Lynn
    Shapiro, Lawrence
    Christiano, Angela M.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (03) : 622 - 628
  • [6] Prevalent LIPH Founder Mutations Lead to Loss of P2Y5 Activation Ability of PA-PLA1α in Autosomal Recessive Hypotrichosis
    Shinkuma, Satoru
    Akiyama, Masashi
    Inoue, Asuka
    Aoki, Junken
    Natsuga, Ken
    Nomura, Toshifumi
    Arita, Ken
    Abe, Riichiro
    Ito, Kei
    Nakamura, Hideki
    Ujiie, Hideyuki
    Shibaki, Akihiko
    Suga, Hiraku
    Tsunemi, Yuichiro
    Nishie, Wataru
    Shimizu, Hiroshi
    [J]. HUMAN MUTATION, 2010, 31 (05) : 602 - 610
  • [7] Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations
    Tanahashi, K.
    Sugiura, K.
    Akiyama, M.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 (03) : 865 - 866
  • [8] Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
    Tanahashi, K.
    Sugiura, K.
    Takeichi, T.
    Takama, H.
    Shinkuma, S.
    Shimizu, H.
    Akiyama, M.
    [J]. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2013, 27 (09) : 1182 - 1184
  • [9] Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
    Tanahashi, Kana
    Sugiura, Kazumitsu
    Kono, Michihiro
    Takama, Hiromichi
    Hamajima, Nobuyuki
    Akiyama, Masashi
    [J]. PLOS ONE, 2014, 9 (02):
  • [10] Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
    Zernov, Nikolay V.
    Skoblov, Mikhail Y.
    Marakhonov, Andrey V.
    Shimomura, Yutaka
    Vasilyeva, Tatyana A.
    Konovalov, Fedor A.
    Abrukova, Anna V.
    Zinchenko, Rena A.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (06) : 1097 - 1105
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