Clinical variation in Lowe syndrome: what and how? [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells.
Eileen D. Brewer
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Modelling Lowe syndrome and Dent-2 disease using zebrafish [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. The phenotype manifests in the eyes, brain and kidney, with the extra-renal features milder in the case of Dent-2 disease.
Martin Lowe
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Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract [PDF]
Heliyon, 2022 Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at ...
Flavien Rouxel +9 more
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Management of cataract surgery in Lowe syndrome [PDF]
International Journal of Ophthalmology, 2022 AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens removal, the development and management of secondary glaucoma.
Katharina Eibenberger +4 more
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Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome [PDF]
Frontiers in Medicine, 2022 We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development.
Chen Wang +4 more
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Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome [PDF]
Children, 2023 Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
Violeta Iotova +5 more
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Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome [PDF]
Frontiers in Cell and Developmental Biology, 2022 Megalin/LRP2 is the primary multiligand receptor for the re-absorption of low molecular weight proteins in the proximal renal tubule. Its function is significantly dependent on its endosomal trafficking.
Lisette Sandoval +3 more
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A human stem cell resource to decipher the biochemical and cellular basis of neurodevelopmental defects in Lowe syndrome [PDF]
Biology Open, 2022 Human brain development is a complex process where multiple cellular and developmental events are coordinated to generate normal structure and function.
Bilal M. Akhtar +8 more
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Novel mutation in OCRL leading to a severe form of Lowe syndrome [PDF]
International Journal of Ophthalmology, 2019 AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral
Feng-Qi Zhou +7 more
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Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome (LS) is a rare genetic disorder leading to significant physical and cognitive impairments. Recognizing the need to bridge the gap between researchers and the LS community, a collaborative patient and public involvement (PPI) project, Lowe ...
Theresa Haugen +5 more
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