227 related articles for article (PubMed ID: 12428211)
1. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
Suchy SF; Nussbaum RL
Am J Hum Genet; 2002 Dec; 71(6):1420-7. PubMed ID: 12428211
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.
Faucherre A; Desbois P; Nagano F; Satre V; Lunardi J; Gacon G; Dorseuil O
Hum Mol Genet; 2005 Jun; 14(11):1441-8. PubMed ID: 15829501
[TBL] [Abstract][Full Text] [Related]
8. Role of Ocrl1 in primary cilia assembly.
Madhivanan K; Ramadesikan S; Aguilar RC
Int Rev Cell Mol Biol; 2015; 317():331-47. PubMed ID: 26008789
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E; Luo N; Alvarado JA; Lim M; Walnuss C; Neely D; Spandau D; Ghaffarieh A; Sun Y
Sci Rep; 2017 May; 7(1):1442. PubMed ID: 28473699
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.
Suchy SF; Cronin JC; Nussbaum RL
J Inherit Metab Dis; 2009 Apr; 32(2):280-8. PubMed ID: 19172411
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.
Sethi S; Sethi N; Mehta S; Kaur S; Makkar V; Sohal PM
Saudi J Kidney Dis Transpl; 2020; 31(1):285-288. PubMed ID: 32129227
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
