BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 9593760)

  • 1. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
    Jänne PA; Suchy SF; Bernard D; MacDonald M; Crawley J; Grinberg A; Wynshaw-Boris A; Westphal H; Nussbaum RL
    J Clin Invest; 1998 May; 101(10):2042-53. PubMed ID: 9593760
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
    Bothwell SP; Farber LW; Hoagland A; Nussbaum RL
    Mamm Genome; 2010 Oct; 21(9-10):458-66. PubMed ID: 20872266
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.
    Sugimoto K; Nishi H; Miyazawa T; Fujita S; Okada M; Takemura T
    Tohoku J Exp Med; 2014 Mar; 232(3):163-6. PubMed ID: 24614960
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
    Coon BG; Mukherjee D; Hanna CB; Riese DJ; Lowe M; Aguilar RC
    Hum Mol Genet; 2009 Dec; 18(23):4478-91. PubMed ID: 19700499
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
    Faucherre A; Desbois P; Satre V; Lunardi J; Dorseuil O; Gacon G
    Hum Mol Genet; 2003 Oct; 12(19):2449-56. PubMed ID: 12915445
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structure and function of the Lowe syndrome protein OCRL1.
    Lowe M
    Traffic; 2005 Sep; 6(9):711-9. PubMed ID: 16101675
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
    Lin T; Orrison BM; Leahey AM; Suchy SF; Bernard DJ; Lewis RA; Nussbaum RL
    Am J Hum Genet; 1997 Jun; 60(6):1384-8. PubMed ID: 9199559
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
    Bothwell SP; Chan E; Bernardini IM; Kuo YM; Gahl WA; Nussbaum RL
    J Am Soc Nephrol; 2011 Mar; 22(3):443-8. PubMed ID: 21183592
    [TBL] [Abstract][Full Text] [Related]  

  • 9. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
    Festa BP; Berquez M; Gassama A; Amrein I; Ismail HM; Samardzija M; Staiano L; Luciani A; Grimm C; Nussbaum RL; De Matteis MA; Dorchies OM; Scapozza L; Wolfer DP; Devuyst O
    Hum Mol Genet; 2019 Jun; 28(12):1931-1946. PubMed ID: 30590522
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Kidney Tubular Ablation of
    Inoue K; Balkin DM; Liu L; Nandez R; Wu Y; Tian X; Wang T; Nussbaum R; De Camilli P; Ishibe S
    J Am Soc Nephrol; 2017 May; 28(5):1399-1407. PubMed ID: 27895154
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
    Kanık A; Kasap-Demir B; Ateşli R; Eliaçık K; Yavaşcan O; Helvacı M
    Turk J Pediatr; 2013; 55(1):82-5. PubMed ID: 23692838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
    Röschinger W; Muntau AC; Rudolph G; Roscher AA; Kammerer S
    Mol Genet Metab; 2000 Mar; 69(3):213-22. PubMed ID: 10767176
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
    Chou YY; Chao SC; Chiou YY; Lin SJ
    Acta Paediatr Taiwan; 2005; 46(4):226-9. PubMed ID: 16381338
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
    Kubota T; Sakurai A; Arakawa K; Shimazu M; Wakui K; Furihata K; Fukushima Y
    Clin Genet; 1998 Sep; 54(3):199-202. PubMed ID: 9788721
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
    Luo N; Kumar A; Conwell M; Weinreb RN; Anderson R; Sun Y
    PLoS One; 2013; 8(6):e66727. PubMed ID: 23805271
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
    Suchy SF; Olivos-Glander IM; Nussabaum RL
    Hum Mol Genet; 1995 Dec; 4(12):2245-50. PubMed ID: 8634694
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel OCRL1 mutations in patients with the phenotype of Dent disease.
    Utsch B; Bökenkamp A; Benz MR; Besbas N; Dötsch J; Franke I; Fründ S; Gok F; Hoppe B; Karle S; Kuwertz-Bröking E; Laube G; Neb M; Nuutinen M; Ozaltin F; Rascher W; Ring T; Tasic V; van Wijk JA; Ludwig M
    Am J Kidney Dis; 2006 Dec; 48(6):942.e1-14. PubMed ID: 17162149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
    Lichter-Konecki U; Farber LW; Cronin JS; Suchy SF; Nussbaum RL
    Mol Genet Metab; 2006; 89(1-2):121-8. PubMed ID: 16777452
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
    Kawano T; Indo Y; Nakazato H; Shimadzu M; Matsuda I
    Am J Med Genet; 1998 Jun; 77(5):348-55. PubMed ID: 9632163
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.
    Peces R; Peces C; de Sousa E; Vega C; Selgas R; Nevado J
    Int Urol Nephrol; 2013 Dec; 45(6):1767-71. PubMed ID: 22821049
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.