A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2)

被引：9

作者：

Naqvi, S. Kamran-Ul-Hassan ^{[1
]}

Raza, S. I. ^{[3
]}

N aveed, A. K. ^{[3
]}

John, P. ^{[2
]}

Ahmad, W. ^{[1
]}

机构：

[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 44520, Pakistan

[2] Natl Univ Sci & Technol, Natl Ctr Virol & Immunol, Rawalpindi Cantt, Pakistan

[3] Natl Univ Sci & Technol, Dept Biochem & Mol Biol, Rawalpindi Cantt, Pakistan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2009年 / 160卷 / 01期

关键词：

autosomal recessive hypotrichosis; deletion mutation; LAH2; LIPH gene; PROTEIN-COUPLED RECEPTOR; HUMAN HAIR-GROWTH;

D O I：

10.1111/j.1365-2133.2008.08822.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：194 / 196

页数：3

共 10 条

[1] Alopecia universalis associated with a mutation in the human hairless gene [J].

Ahmad, W ;

Haque, WFU ;

Brancolini, V ;

Tsou, HC ;

Haque, SU ;

Lam, H ;

Aita, VM ;

Owen, J ;

deBlaquiere, M ;

Frank, J ;

Cserhalmi-Friedman, PB ;

Leask, A ;

McGrath, JA ;

Peacocke, M ;

Ahmad, M ;

Ott, J ;

Christiano, AM .

SCIENCE, 1998, 279 (5351) :720-724

[2] A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis [J].

Ali, Ghazanfar ;

Chishti, Muhammad Salman ;

Raza, Syed Irfan ;

John, Peter ;

Ahmad, Wasim .

HUMAN GENETICS, 2007, 121 (3-4) :319-325

[3] A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) [J].

Jelani, M. ;

Wasif, N. ;

Ali, G. ;

Chishti, M. S. ;

Ahmad, W. .

CLINICAL GENETICS, 2008, 74 (02) :184-188

[4] Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH [J].

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. .

SCIENCE, 2006, 314 (5801) :982-985

[5] Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris [J].

Kljuic, A ;

Bazzi, H ;

Sundberg, JP ;

Martinez-Mir, A ;

O'Shaughnessy, R ;

Mahoney, MG ;

Levy, M ;

Montagutelli, X ;

Ahmad, W ;

Alta, VM ;

Gordon, D ;

Uitto, J ;

Whiting, D ;

Ott, J ;

Fischer, S ;

Gilliam, TC ;

Jahoda, CAB ;

Morris, RJ ;

Panteleyev, AA ;

Nguyen, VT ;

Christiano, AM .

CELL, 2003, 113 (02) :249-260

[6] Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin [J].

Levy-Nissenbaum, E ;

Betz, RC ;

Frydman, M ;

Simon, M ;

Lahat, H ;

Bakhan, T ;

Goldman, B ;

Bygum, A ;

Pierick, M ;

Hillmer, AM ;

Jonca, N ;

Toribio, J ;

Kruse, R ;

Dewald, G ;

Cichon, S ;

Kubisch, C ;

Guerrin, M ;

Serre, G ;

Nöthen, MM ;

Pras, E .

NATURE GENETICS, 2003, 34 (02) :151-153

[7]

Maquat LE, 1996, AM J HUM GENET, V59, P279

[8] G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth [J].

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. .

NATURE GENETICS, 2008, 40 (03) :329-334

[9] Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair [J].

Shimomura, Yutaka ;

Wajid, Muhammad ;

Ishii, Yoshiyuki ;

Shapiro, Lawrence ;

Petukhova, Lynn ;

Gordon, Derek ;

Christiano, Angela M. .

NATURE GENETICS, 2008, 40 (03) :335-339

[10] ISOLATION OF A NEW SPECIES OF PHYSARUM LYSOPHOSPHATIDIC ACID, PHYLPA, AND ITS EFFECT ON DNA-POLYMERASE-ACTIVITY [J].

TAKAHASHI, Y ;

SHIMADA, Y ;

SHIODA, M ;

YOSHIDA, S ;

MUROFUSHI, H ;

MURAKAMIMUROFUSHI, K .

CELL STRUCTURE AND FUNCTION, 1993, 18 (03) :135-138

← 1 →