189 related articles for article (PubMed ID: 24711037)
21. 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]
22. 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]
23. 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]
24. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
Topaloğlu R; Ludwig M; Çelebi Tayfur A
Turk J Pediatr; 2013; 55(3):331-4. PubMed ID: 24217083
[TBL] [Abstract][Full Text] [Related]
25. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Addis M; Meloni C; Congiu R; Santaniello S; Emma F; Zuffardi O; Ciccone R; Cao A; Melis MA; Cau M
Eur J Med Genet; 2007; 50(1):79-84. PubMed ID: 17142121
[TBL] [Abstract][Full Text] [Related]
26. Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
Nakano E; Yoshida A; Miyama Y; Yabuuchi T; Kajiho Y; Kanda S; Miura K; Oka A; Harita Y
J Hum Genet; 2020 Oct; 65(10):831-839. PubMed ID: 32427950
[TBL] [Abstract][Full Text] [Related]
27. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].
Keilhauer CN; Gal A; Sold JE; Zimmermann J; Netzer KO; Schramm L
Klin Monbl Augenheilkd; 2007 Mar; 224(3):207-9. PubMed ID: 17385124
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Du R; Zhou C; Chen S; Li T; Lin Y; Xu A; Huang Y; Mei H; Huang X; Tan D; Zheng R; Liang C; Cai Y; Shao Y; Zhang W; Liu L; Zeng C
Pediatr Nephrol; 2024 Aug; 39(8):2377-2391. PubMed ID: 38589698
[TBL] [Abstract][Full Text] [Related]
31. [Genetic testing in a Chinese pedigree with Lowe syndrome].
Hua R; Yang W; Sun NH; Zhang X
Zhonghua Yan Ke Za Zhi; 2011 Sep; 47(9):801-5. PubMed ID: 22177125
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.
Lasne D; Baujat G; Mirault T; Lunardi J; Grelac F; Egot M; Salomon R; Bachelot-Loza C
Br J Haematol; 2010 Sep; 150(6):685-8. PubMed ID: 20629659
[TBL] [Abstract][Full Text] [Related]
35. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
Lin T; Orrison BM; Suchy SF; Lewis RA; Nussbaum RL
Mol Genet Metab; 1998 May; 64(1):58-61. PubMed ID: 9682219
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. 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]
40. 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]
[Previous] [Next] [New Search]