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Journal Abstract Search

258 related items for PubMed ID: 19529952

  • 1. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
    Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC.
    Arch Dermatol Res; 2009 Sep; 301(8):621-4. PubMed ID: 19529952
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  • 2. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
    Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A.
    J Am Acad Dermatol; 2009 Nov; 61(5):813-8. PubMed ID: 19766349
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  • 3. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
    Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.
    Br J Dermatol; 2009 May; 160(5):1006-10. PubMed ID: 19292720
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  • 4. 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.
    J Eur Acad Dermatol Venereol; 2010 Jul; 24(7):858-9. PubMed ID: 20015179
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  • 5. 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, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.
    Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374
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  • 8. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
    Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM.
    Exp Dermatol; 2009 Mar; 18(3):218-21. PubMed ID: 18803659
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  • 9. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
    Jelani M, Wasif N, Ali G, Chishti M, Ahmad W.
    Clin Genet; 2008 Aug; 74(2):184-8. PubMed ID: 18445047
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  • 10. Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.
    Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC.
    Exp Dermatol; 2012 Jun; 21(6):469-71. PubMed ID: 22621192
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  • 11. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
    Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM.
    Nat Genet; 2008 Mar; 40(3):335-9. PubMed ID: 18297072
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  • 12. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
    Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E.
    Arch Dermatol Res; 2009 Jun; 301(5):391-3. PubMed ID: 18820939
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  • 14. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
    Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H.
    Hum Mutat; 2010 May; 31(5):602-10. PubMed ID: 20213768
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  • 16. Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
    Petukhova L, Sousa EC, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM.
    Genomics; 2008 Nov; 92(5):273-8. PubMed ID: 18692127
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  • 18. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
    Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM.
    J Invest Dermatol; 2009 Aug; 129(8):1927-34. PubMed ID: 19262606
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