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Volumn 2, Issue , 2012, Pages

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Author keywords

[No Author keywords available]

Indexed keywords

LIPH PROTEIN, HUMAN; MICROSATELLITE DNA; TRIACYLGLYCEROL LIPASE;

EID: 84868268189     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep00730     Document Type: Article
Times cited : (10)

References (13)
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    • A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
    • DOI 10.1007/s00439-007-0344-0
    • Ali, G., Chishti, M. S., Raza, S. I., John, P. & Ahmad, W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet 121, 319-25 (2007). (Pubitemid 46554668)
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    • Ali, G.1    Chishti, M.S.2    Raza, S.I.3    John, P.4    Ahmad, W.5
  • 5
    • 80054938937 scopus 로고    scopus 로고
    • LPA-producing enzyme PA-PLAalpha regulates hair follicle development by modulating EGFR signalling
    • Inoue, A. et al. LPA-producing enzyme PA-PLAalpha regulates hair follicle development by modulating EGFR signalling. EMBO J 30, 4248-60 (2011).
    • (2011) EMBO J , vol.30 , pp. 4248-4260
    • Inoue, A.1
  • 6
    • 69049105281 scopus 로고    scopus 로고
    • Novel mutationsinthe P2RY5 geneinone Turkish and two Indian patients presenting with hypotrichosis and woolly hair
    • Pasternack, S. M. et al. Novel mutationsinthe P2RY5 geneinone Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Arch Dermatol Res 301, 621-4 (2009).
    • (2009) Arch Dermatol Res , vol.301 , pp. 621-624
    • Pasternack, S.M.1
  • 7
    • 47149102931 scopus 로고    scopus 로고
    • A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
    • DOI 10.1111/j.1399-0004.2008.01011.x
    • Jelani, M., Wasif, N., Ali, G., Chishti, M. & Ahmad, W. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). Clin Genet 74, 184-8 (2008). (Pubitemid 351974280)
    • (2008) Clinical Genetics , vol.74 , Issue.2 , pp. 184-188
    • Jelani, M.1    Wasif, N.2    Ali, G.3    Chishti, M.S.4    Ahmad, W.5
  • 9
    • 64149110508 scopus 로고    scopus 로고
    • The effect of inbreeding on the distribution of compound heterozygotes: A lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
    • Petukhova, L. et al. The effect of inbreeding on the distribution of compound heterozygotes: A lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered 68, 117-30 (2009).
    • (2009) Hum Hered , vol.68 , pp. 117-130
    • Petukhova, L.1
  • 10
    • 79960580136 scopus 로고    scopus 로고
    • Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
    • Khan, S. et al. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin Exp Dermatol 36, 652-4 (2011).
    • (2011) Clin Exp Dermatol , vol.36 , pp. 652-654
    • Khan, S.1
  • 11
    • 74749085366 scopus 로고    scopus 로고
    • A missense mutationin the P2RY5 gene leadingto autosomal recessive woolly hair inaSyrian patient
    • Kurban, M., Ghosn, S., Abbas, O., Shimomura, Y. & Christiano, A. A missense mutationin the P2RY5 gene leadingto autosomal recessive woolly hair inaSyrian patient. J Dermatol Sci 57, 132-4 (2010).
    • (2010) J Dermatol Sci , vol.57 , pp. 132-134
    • Kurban, M.1    Ghosn, S.2    Abbas, O.3    Shimomura, Y.4    Christiano, A.5
  • 12
    • 77953189968 scopus 로고    scopus 로고
    • A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis
    • Horev, L., Saad-Edin, B., Ingber, A. & Zlotogorski, A. A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis. J Eur Acad Dermatol Venereol 24, 858-9 (2010).
    • (2010) J Eur Acad Dermatol Venereol , vol.24 , pp. 858-859
    • Horev, L.1    Saad-Edin, B.2    Ingber, A.3    Zlotogorski, A.4
  • 13
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    • Lathrop, G. M. & Lalouel, J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36, 460-5 (1984). (Pubitemid 14173577)
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    • Lathrop, G.M.1    Lalouel, J.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.