BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 30590522)

  • 1. 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]  

  • 2. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
    Montjean R; Aoidi R; Desbois P; Rucci J; Trichet M; Salomon R; Rendu J; Fauré J; Lunardi J; Gacon G; Billuart P; Dorseuil O
    Hum Mol Genet; 2015 Feb; 24(4):994-1006. PubMed ID: 25305077
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.
    Vicinanza M; Di Campli A; Polishchuk E; Santoro M; Di Tullio G; Godi A; Levtchenko E; De Leo MG; Polishchuk R; Sandoval L; Marzolo MP; De Matteis MA
    EMBO J; 2011 Oct; 30(24):4970-85. PubMed ID: 21971085
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease.
    Berquez M; Gadsby JR; Festa BP; Butler R; Jackson SP; Berno V; Luciani A; Devuyst O; Gallop JL
    Kidney Int; 2020 Oct; 98(4):883-896. PubMed ID: 32919786
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
    De Matteis MA; Staiano L; Emma F; Devuyst O
    Nat Rev Nephrol; 2017 Aug; 13(8):455-470. PubMed ID: 28669993
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.
    Wu G; Zhang W; Na T; Jing H; Wu H; Peng JB
    Am J Physiol Cell Physiol; 2012 May; 302(10):C1479-91. PubMed ID: 22378746
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Loss of OCRL increases ciliary PI(4,5)P
    Prosseda PP; Luo N; Wang B; Alvarado JA; Hu Y; Sun Y
    J Cell Sci; 2017 Oct; 130(20):3447-3454. PubMed ID: 28871046
    [TBL] [Abstract][Full Text] [Related]  

  • 10. IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule.
    Oltrabella F; Jackson-Crawford A; Yan G; Rixham S; Starborg T; Lowe M
    Hum Mol Genet; 2022 Apr; 31(8):1183-1196. PubMed ID: 34673953
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
    Pirruccello M; De Camilli P
    Trends Biochem Sci; 2012 Apr; 37(4):134-43. PubMed ID: 22381590
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
    Barnes J; Salas F; Mokhtari R; Dolstra H; Pedrosa E; Lachman HM
    Mol Autism; 2018; 9():44. PubMed ID: 30147856
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
    Zhang X; Hartz PA; Philip E; Racusen LC; Majerus PW
    J Biol Chem; 1998 Jan; 273(3):1574-82. PubMed ID: 9430698
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
    Sakakibara N; Ijuin T; Horinouchi T; Yamamura T; Nagano C; Okada E; Ishiko S; Aoto Y; Rossanti R; Ninchoji T; Awano H; Nagase H; Minamikawa S; Tanaka R; Matsuyama T; Nagatani K; Kamei K; Jinnouchi K; Ohtsuka Y; Oka M; Araki Y; Tanaka T; Harada MS; Igarashi T; Kitahara H; Morisada N; Nakamura SI; Okada T; Iijima K; Nozu K
    Nephrol Dial Transplant; 2022 Jan; 37(2):262-270. PubMed ID: 34586410
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and laboratory features of Macedonian children with OCRL mutations.
    Tasic V; Lozanovski VJ; Korneti P; Ristoska-Bojkovska N; Sabolic-Avramovska V; Gucev Z; Ludwig M
    Pediatr Nephrol; 2011 Apr; 26(4):557-62. PubMed ID: 21249396
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
    Rendu J; Montjean R; Coutton C; Suri M; Chicanne G; Petiot A; Brocard J; Grunwald D; Pietri Rouxel F; Payrastre B; Lunardi J; Dorseuil O; Marty I; Fauré J
    Hum Mutat; 2017 Feb; 38(2):152-159. PubMed ID: 27790796
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The role of the Lowe syndrome protein OCRL in the endocytic pathway.
    Sharma S; Skowronek A; Erdmann KS
    Biol Chem; 2015 Dec; 396(12):1293-300. PubMed ID: 26351914
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
    Suruda C; Tsuji S; Yamanouchi S; Kimata T; Huan NT; Kurosawa H; Hirayama Y; Tsukaguchi H; Saito A; Kaneko K
    Pediatr Nephrol; 2017 Apr; 32(4):621-625. PubMed ID: 27766457
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
    Bockenhauer D; Bokenkamp A; van't Hoff W; Levtchenko E; Kist-van Holthe JE; Tasic V; Ludwig M
    Clin J Am Soc Nephrol; 2008 Sep; 3(5):1430-6. PubMed ID: 18480301
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.