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Journal Abstract Search

164 related items for PubMed ID: 15746149

  • 1. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
    Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G.
    Hum Mol Genet; 2005 Apr 15; 14(8):1019-27. PubMed ID: 15746149
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  • 2. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
    Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH.
    Hum Mol Genet; 2013 Aug 15; 22(16):3259-68. PubMed ID: 23595882
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  • 6. A novel signal transduction cascade involving direct physical interaction of the renin/prorenin receptor with the transcription factor promyelocytic zinc finger protein.
    Schefe JH, Menk M, Reinemund J, Effertz K, Hobbs RM, Pandolfi PP, Ruiz P, Unger T, Funke-Kaiser H.
    Circ Res; 2006 Dec 08; 99(12):1355-66. PubMed ID: 17082479
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  • 8. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
    Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N.
    Eur J Hum Genet; 2008 Nov 08; 16(11):1358-63. PubMed ID: 18523455
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  • 9. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
    Troester MM, Trachtenberg T, Narayanan V.
    J Child Neurol; 2007 Jun 08; 22(6):744-8. PubMed ID: 17641262
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  • 10. AGTR2 mutations in X-linked mental retardation.
    Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK.
    Science; 2002 Jun 28; 296(5577):2401-3. PubMed ID: 12089445
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  • 14. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
    de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.
    J Med Genet; 2008 Aug 28; 45(8):539-43. PubMed ID: 18550699
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  • 15. [(Pro)renin receptor /ATP6AP2 and cell death].
    Kinouchi K, Ichihara A, Ito H.
    Nihon Jinzo Gakkai Shi; 2011 Aug 28; 53(7):996-9. PubMed ID: 22073862
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  • 16. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
    Shao L, Liu L, Miao Z, Ren H, Wang W, Lang Y, Yue S, Chen N.
    Am J Nephrol; 2008 Aug 28; 28(6):900-7. PubMed ID: 18580052
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  • 17. Inhibition of renin: an updated review of the development of renin inhibitors.
    Li YC.
    Curr Opin Investig Drugs; 2007 Sep 28; 8(9):750-7. PubMed ID: 17729187
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  • 18. (Pro)renin receptor and V-ATPase: from Drosophila to humans.
    Rousselle A, Sihn G, Rotteveel M, Bader M.
    Clin Sci (Lond); 2014 Apr 28; 126(8):529-36. PubMed ID: 24400720
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