248 related articles for article (PubMed ID: 21183592)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:
Gianesello L; Arroyo J; Del Prete D; Priante G; Ceol M; Harris PC; Lieske JC; Anglani F
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680992
[TBL] [Abstract][Full Text] [Related]
15. Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Gliozzi ML; Espiritu EB; Shipman KE; Rbaibi Y; Long KR; Roy N; Duncan AW; Lazzara MJ; Hukriede NA; Baty CJ; Weisz OA
J Am Soc Nephrol; 2020 Jan; 31(1):67-83. PubMed ID: 31676724
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Luo N; West CC; Murga-Zamalloa CA; Sun L; Anderson RM; Wells CD; Weinreb RN; Travers JB; Khanna H; Sun Y
Hum Mol Genet; 2012 Aug; 21(15):3333-44. PubMed ID: 22543976
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
