These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 22821049)

  • 21. The cellular and physiological functions of the Lowe syndrome protein OCRL1.
    Mehta ZB; Pietka G; Lowe M
    Traffic; 2014 May; 15(5):471-87. PubMed ID: 24499450
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
    Gao Y; Jiang F; Ou ZY
    World J Pediatr; 2016 Nov; 12(4):484-488. PubMed ID: 27059748
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.
    Pasternack SM; Böckenhauer D; Refke M; Tasic V; Draaken M; Conrad C; Born M; Betz RC; Reutter H; Ludwig M
    Klin Padiatr; 2013 Jan; 225(1):29-33. PubMed ID: 22915452
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].
    Chabaâ L; Monnier N; Dahri S; Jorio M; Lunardi J; Chabraoui L
    Ann Biol Clin (Paris); 2006; 64(1):53-9. PubMed ID: 16420990
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome.
    Hou JW
    J Formos Med Assoc; 2009 Sep; 108(9):730-5. PubMed ID: 19773212
    [TBL] [Abstract][Full Text] [Related]  

  • 32. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
    Monnier N; Satre V; Lerouge E; Berthoin F; Lunardi J
    Hum Mutat; 2000; 16(2):157-65. PubMed ID: 10923037
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
    Egot M; Lasne D; Poirault-Chassac S; Mirault T; Pidard D; Dreano E; Elie C; Gandrille S; Marchelli A; Baruch D; Rendu J; Fauré J; Flaujac C; Gratacap MP; Sié P; Gaussem P; Salomon R; Baujat G; Bachelot-Loza C
    Br J Haematol; 2021 Mar; 192(5):909-921. PubMed ID: 33528045
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
    Satre V; Monnier N; Berthoin F; Ayuso C; Joannard A; Jouk PS; Lopez-Pajares I; Megabarne A; Philippe HJ; Plauchu H; Torres ML; Lunardi J
    Am J Hum Genet; 1999 Jul; 65(1):68-76. PubMed ID: 10364518
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
    Yuksel A; Karaca E; Albayram MS
    J Child Neurol; 2009 Jan; 24(1):93-6. PubMed ID: 19168822
    [TBL] [Abstract][Full Text] [Related]  

  • 37. First report of prenatal biochemical diagnosis of Lowe syndrome.
    Suchy SF; Lin T; Horwitz JA; O'Brien WE; Nussbaum RL
    Prenat Diagn; 1998 Nov; 18(11):1117-21. PubMed ID: 9854717
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
    Shrimpton AE; Hoopes RR; Knohl SJ; Hueber P; Reed AA; Christie PT; Igarashi T; Lee P; Lehman A; White C; Milford DV; Sanchez MR; Unwin R; Wrong OM; Thakker RV; Scheinman SJ
    Nephron Physiol; 2009; 112(2):p27-36. PubMed ID: 19390221
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in OCRL1 gene in Indian children with Lowe syndrome.
    Sethi SK; Bagga A; Gulati A; Hari P; Gupta N; Lunardi J
    Clin Exp Nephrol; 2008 Oct; 12(5):358-362. PubMed ID: 18500547
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.