Literature DB >> 19892526

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

Yutaka Shimomura, Masaaki Ito, Angela M Christiano.   

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Year:  2009        PMID： 19892526      PMCID： PMC4296314          DOI： 10.1016/j.jdermsci.2009.08.005

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  10 in total

1.  A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Authors:  Ghazanfar Ali; Muhammad Salman Chishti; Syed Irfan Raza; Peter John; Wasim Ahmad
Journal:  Hum Genet       Date:  2007-02-27       Impact factor: 4.132

2.  Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.

Authors:  Anastasiya Kazantseva; Andrey Goltsov; Rena Zinchenko; Anastasia P Grigorenko; Anna V Abrukova; Yuri K Moliaka; Alexander G Kirillov; Zhiru Guo; Stephen Lyle; Evgeny K Ginter; Evgeny I Rogaev
Journal:  Science       Date:  2006-11-10       Impact factor: 47.728

3.  Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

Authors:  Yutaka Shimomura; Muhammad Wajid; Yoshiyuki Ishii; Lawrence Shapiro; Lynn Petukhova; Derek Gordon; Angela M Christiano
Journal:  Nat Genet       Date:  2008-02-24       Impact factor: 38.330

4.  Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6.

Authors:  Keisuke Yanagida; Kayo Masago; Hiroki Nakanishi; Yasuyuki Kihara; Fumie Hamano; Yoko Tajima; Ryo Taguchi; Takao Shimizu; Satoshi Ishii
Journal:  J Biol Chem       Date:  2009-04-22       Impact factor: 5.157

5.  In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Authors:  Sandra M Pasternack; Ivar von Kügelgen; Melanie Müller; Vinzenz Oji; Heiko Traupe; Eli Sprecher; Markus M Nöthen; Andreas R Janecke; Regina C Betz
Journal:  J Invest Dermatol       Date:  2009-06-18       Impact factor: 8.551

6.  Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

Authors:  Yutaka Shimomura; Muhammad Wajid; Abraham Zlotogorski; Young-Jin Lee; Robert H Rice; Angela M Christiano
Journal:  J Invest Dermatol       Date:  2009-03-05       Impact factor: 8.551

7.  Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Authors:  Yutaka Shimomura; Muhammad Wajid; Lynn Petukhova; Lawrence Shapiro; Angela M Christiano
Journal:  J Invest Dermatol       Date:  2008-10-02       Impact factor: 8.551

8.  The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Authors:  Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Prakash Gorroochurn; Susan E Hodge; Angela M Christiano
Journal:  Hum Hered       Date:  2009-04-09       Impact factor: 0.444

9.  Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Authors:  Gul Naz; Bushra Khan; Ghazanfar Ali; Zahid Azeem; Abdul Wali; Muhammad Ansar; Wasim Ahmad
Journal:  J Dermatol Sci       Date:  2009-01-23       Impact factor: 4.563

10.  A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid.

Authors:  Hirofumi Sonoda; Junken Aoki; Tatsufumi Hiramatsu; Mayuko Ishida; Koji Bandoh; Yuki Nagai; Ryo Taguchi; Keizo Inoue; Hiroyuki Arai
Journal:  J Biol Chem       Date:  2002-06-12       Impact factor: 5.157
  10 in total
  5 in total

1.  A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Authors:  Muhammad Ansar; Syed Irfan Raza; Kwanghyuk Lee; Shamim Shahi; Anushree Acharya; Hang Dai; Joshua D Smith; Jay Shendure; Michael J Bamshad; Deborah A Nickerson; Regie Lyn P Santos-Cortez; Wasim Ahmad; Suzanne M Leal
Journal:  J Med Genet       Date:  2015-07-09       Impact factor: 6.318

2.  A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus).

Authors:  Mathieu Diribarne; Xavier Mata; Céline Chantry-Darmon; Anne Vaiman; Gérard Auvinet; Stéphan Bouet; Séverine Deretz; Edmond-Paul Cribiu; Hubert de Rochambeau; Daniel Allain; Gérard Guérin
Journal:  PLoS One       Date:  2011-04-28       Impact factor: 3.240

3.  In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

Authors:  Syed Irfan Raza; Dost Muhammad; Abid Jan; Raja Hussain Ali; Mubashir Hassan; Wasim Ahmad; Sajid Rashid
Journal:  PLoS One       Date:  2014-08-13       Impact factor: 3.240

4.  A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.

Authors:  Naoko Matsuno; Makoto Kunisada; Haruhisa Kanki; Yutaka Simomura; Chikako Nishigori
Journal:  Case Rep Dermatol       Date:  2013-12-07

5.  Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.

Authors:  Kana Tanahashi; Kazumitsu Sugiura; Michihiro Kono; Hiromichi Takama; Nobuyuki Hamajima; Masashi Akiyama
Journal:  PLoS One       Date:  2014-02-19       Impact factor: 3.240
  5 in total

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