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.
238 related articles for article (PubMed ID: 28803024)
1. A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. Nakanishi K; Nozu K; Hiramoto R; Minamikawa S; Yamamura T; Fujimura J; Horinouchi T; Ninchoji T; Kaito H; Morisada N; Ishimori S; Nakanishi K; Morioka I; Awano H; Matsuo M; Iijima K Eur J Med Genet; 2017 Dec; 60(12):631-634. PubMed ID: 28803024 [TBL] [Abstract][Full Text] [Related]
2. Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome. Sun J; Zhou Z; Weng C; Wang C; Chen J; Feng X; Yu P; Qi M Clin Exp Nephrol; 2020 Aug; 24(8):657-665. PubMed ID: 32394213 [TBL] [Abstract][Full Text] [Related]
3. Onset mechanism of a female patient with Dent disease 2. Okamoto T; Sakakibara N; Nozu K; Takahashi T; Hayashi A; Sato Y; Nagano C; Matsuo M; Iijima K; Manabe A Clin Exp Nephrol; 2020 Oct; 24(10):946-954. PubMed ID: 32666344 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders. Zhang X; Qiu W; Liu H; Ye X; Sun Y; Fan Y; Yu Y Ann Hum Genet; 2020 Nov; 84(6):456-462. PubMed ID: 32776513 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients. Chou YY; Chao SC; Chiou YY; Lin SJ Acta Paediatr Taiwan; 2005; 46(4):226-9. PubMed ID: 16381338 [TBL] [Abstract][Full Text] [Related]
12. 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]
14. Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction. Dumic KK; Anticevic D; Petrinovic-Doresic J; Zigman T; Zarković K; Rokic F; Vugrek O Eur J Med Genet; 2020 Oct; 63(10):104022. PubMed ID: 32712215 [TBL] [Abstract][Full Text] [Related]
15. [Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe]. Shi RM; Bian XH; Li LM; Liu XH Zhongguo Dang Dai Er Ke Za Zhi; 2014 Apr; 16(4):366-9. PubMed ID: 24750831 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Analysis of OCRL gene mutation in a male infant with Lowe syndrome]. Chen S; Zhang X; Chen L; Tian Q; Jiang W Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):223-7. PubMed ID: 24711037 [TBL] [Abstract][Full Text] [Related]
18. Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome. Zheng B; Chen Q; Wang C; Zhou W; Chen Y; Ding G; Jia Z; Zhang A; Huang S Mol Genet Genomic Med; 2019 Sep; 7(9):e876. PubMed ID: 31376231 [TBL] [Abstract][Full Text] [Related]
19. [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]
20. 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] [Next] [New Search]