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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Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]
Clin Kidney J, 2015 There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not ...
Butani L.
europepmc +3 more sources
Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature [PDF]
Journal of Medical Case Reports, 2019 Background Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans ...
P. Tatsi +6 more
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Lowe syndrome: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global ...
Hyun-Kyung Kim +6 more
doaj +2 more sources
Barriers to care and the need for dental educational materials for the Lowe syndrome community: a survey of dentists [PDF]
PeerJBackground This study aimed to assess dentists’ experience in treating individuals with Lowe syndrome (LS), reasons they may be unable to provide dental care for individuals with LS, and perceptions of the need for educational materials tailored to the ...
Adam Lowenstein +6 more
doaj +3 more sources
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. [PDF]
PLoS Genetics, 2015 Lowe syndrome and Dent-2 disease are caused by mutation of the inositol 5-phosphatase OCRL1. Despite our increased understanding of the cellular functions of OCRL1, the underlying basis for the renal tubulopathy seen in both human disorders, of which a ...
Francesca Oltrabella +7 more
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Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract ...
Bixia Zheng +8 more
doaj +2 more sources
A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy. [PDF]
Int J Mol Sci, 2021 Naik S +9 more
europepmc +2 more sources