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The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). ...In this review, we provide an update on clinical and molecular genetic findings in Lowe …
OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype cla …
Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading.
Bura A, de Matteis MA, Bender M, Swinkels M, Versluis J, Jansen AJG, Jurak Begonja A. Bura A, et al. Br J Haematol. 2023 Jan;200(1):87-99. doi: 10.1111/bjh.18478. Epub 2022 Sep 29. Br J Haematol. 2023. PMID: 36176266
Lowe syndrome (LS) is a rare, X-linked disorder characterised by numerous symptoms affecting the brain, the eyes, and the kidneys. ...
Lowe syndrome (LS) is a rare, X-linked disorder characterised by numerous symptoms affecting the brain, the eyes, and the kidn …
Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y. Ma X, et al. Eur J Ophthalmol. 2020 Sep;30(5):966-973. doi: 10.1177/1120672120920544. Epub 2020 Apr 27. Eur J Ophthalmol. 2020. PMID: 32340490 Free PMC article.
BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patie …
BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congeni …
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
Sena C, Iannello G, Skowronski AA, Dannheim K, Cheung L, Agrawal PB, Hirschhorn JN, Zeitler P, LeDuc CA, Stratigopoulos G, Thaker VV. Sena C, et al. J Med Genet. 2022 Dec;59(12):1171-1178. doi: 10.1136/jmedgenet-2022-108490. Epub 2022 Jul 8. J Med Genet. 2022. PMID: 35803701 Free PMC article.
BACKGROUND: Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximately 1 in 500 000 children. ...METHODS: This study is a retrospective review of clinical features reported by family based survey conducted by …
BACKGROUND: Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximatel …
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. Song E, et al. Sci Rep. 2017 May 4;7(1):1442. doi: 10.1038/s41598-017-01447-3. Sci Rep. 2017. PMID: 28473699 Free PMC article.
We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2. ...In conclusion, we report novel OCRL1 mutatio …
We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutati …
Corneal Keloid in Lowe Syndrome.
Martin GC, Putterman M, Dureau P. Martin GC, et al. Ophthalmology. 2022 Jun;129(6):625. doi: 10.1016/j.ophtha.2021.12.006. Ophthalmology. 2022. PMID: 35598901 No abstract available.
Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
Zhang Y, Deng L, Chen X, Hu Y, Chen Y, Chen K, Zhou J. Zhang Y, et al. BMC Med Genomics. 2021 Sep 6;14(1):219. doi: 10.1186/s12920-021-01069-9. BMC Med Genomics. 2021. PMID: 34488756 Free PMC article. Review.
CASE PRESENTATION: We identified two novel OCRL mutations in two unrelated Chinese boys, each with a severe phenotype of Lowe syndrome. A novel de novo deletion (hemizygous c.659_662delAGGG, p.E220Vfs*29) was present in patient 1 and a novel splicing mutation (hemiz …
CASE PRESENTATION: We identified two novel OCRL mutations in two unrelated Chinese boys, each with a severe phenotype of Lowe synd …
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
De Matteis MA, Staiano L, Emma F, Devuyst O. De Matteis MA, et al. Nat Rev Nephrol. 2017 Aug;13(8):455-470. doi: 10.1038/nrneph.2017.83. Epub 2017 Jul 3. Nat Rev Nephrol. 2017. PMID: 28669993 Review.
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. ...We discuss how studies of OCRL have led to important discoveries about the basic mechanisms of membrane traf …
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability …
The role of the Lowe syndrome protein OCRL in the endocytic pathway.
Sharma S, Skowronek A, Erdmann KS. Sharma S, et al. Biol Chem. 2015 Dec;396(12):1293-300. doi: 10.1515/hsz-2015-0180. Biol Chem. 2015. PMID: 26351914 Review.
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous sy …
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characte …
71 results