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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 …
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.
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 …
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 …
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 …
The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.
de Sa A, Li G, Byrne C, Lowe M. de Sa A, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2025 Aug;1870(6):159660. doi: 10.1016/j.bbalip.2025.159660. Epub 2025 Jul 4. Biochim Biophys Acta Mol Cell Biol Lipids. 2025. PMID: 40618840 Free article. Review.
We also discuss the mechanisms underlying Lowe syndrome and Dent-2 disease, and the possible influence of INPP5B in dictating final phenotypic outcome. The knowledge gained studying OCRL and INPP5B has improved understanding of how cells function and will inform the …
We also discuss the mechanisms underlying Lowe syndrome and Dent-2 disease, and the possible influence of INPP5B in dictating …
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 …
Dental needs and conditions of individuals with Lowe syndrome: An observational study.
Lowenstein A, Swee G, Finkelman MD, Tesini D, Loo CY. Lowenstein A, et al. Spec Care Dentist. 2024 Mar-Apr;44(2):502-512. doi: 10.1111/scd.12870. Epub 2023 May 2. Spec Care Dentist. 2024. PMID: 37128874
INTRODUCTION: Lowe syndrome (LS) is an uncommon condition that affects the brain, kidneys, nervous system, and eyes, predominantly in males. ...METHODS: Surveys assessing dental conditions, dental treatments, and access and/or barriers to care were administered to f …
INTRODUCTION: Lowe syndrome (LS) is an uncommon condition that affects the brain, kidneys, nervous system, and eyes, predomina …
68 results