Results 31 to 40 of about 1,383 (138)

Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene

Sri Lanka Journal of Child Health, 2017
Sri Lanka Journal of Child Health, 2017; 46(3): 280 ...
Grace Angeline Malarnangai Kularatnam, Vindya Subasinghe, Dilanthi Hewa Warawitage, Kandana Liyanage Subhashinie Jayasena, Florian Recker, Eresha Anandanie Jasinge, Samantha Waidyanatha, Michael Ludwig   +7 more
openaire   +2 more sources

A Path-Based Analysis of Infected Cell Line and COVID-19 Patient Transcriptome Reveals Novel Potential Targets and Drugs Against SARS-CoV-2

Frontiers in Immunology, 2022
Most transcriptomic studies of SARS-CoV-2 infection have focused on differentially expressed genes, which do not necessarily reveal the genes mediating the transcriptomic changes.
Piyush Agrawal, Narmada Sambaturu, Gulden Olgun, Sridhar Hannenhalli   +3 more
doaj   +1 more source

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, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo   +6 more
doaj   +1 more source

Lowe syndrome: case report

Zdravniški Vestnik, 2018
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular
Eva Bahor, Rina Rus
doaj   +1 more source

Genome-wide identification of loci associated with growth in rainbow trout

BMC Genomics, 2020
Background Growth is a major economic production trait in aquaculture. Improvements in growth performance will reduce time and cost for fish to reach market size. However, genes underlying growth have not been fully explored in rainbow trout.
Ali Ali, Rafet Al-Tobasei, Daniela Lourenco, Tim Leeds, Brett Kenney, Mohamed Salem   +5 more
doaj   +1 more source

Functional Characterization and Rescue of a Deep Intronic Mutation inOCRLGene Responsible for Lowe Syndrome

Human Mutation, 2016
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia.
Rendu, John, Montjean, Rodrick, Coutton, Charles, Suri, Mohnish, Chicanne, Gaetan, Petiot, Anne, Brocard, Julie, Grunwald, Didier, Piétri‐rouxel, France, Payrastre, Bernard, Lunardi, Joel, Dorseuil, Olivier, Marty, Isabelle, Fauré, Julien   +13 more
openaire   +4 more sources

Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome

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, Wenzhe Zhang, Leyi Wang, Wenhui Liu, Hui Guo   +4 more
doaj   +1 more source

The Polymorphism of OCRL Gene in Kidney Stones and Kidney Failure Patients

Iraqi Journal of Science
Kidney disease is a kidney injury or disease that affects many people globally. The study aims to evaluate the effect of Phosphatidyl Inositol (4,5) Bisphosphate, 5-Phosphatase (PIP2) enzyme on calcium (Ca2+) levels and its relationship to oculocerebrorenal gene variations in kidney stone and kidney failure patients.
Shatha Shakir Ahmed, Luma Hassan Alwan Al Obaidy   +1 more
openaire   +1 more source

Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report

Frontiers in Pediatrics, 2020
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure ...
Martin Bezdíčka, Jan Langer, Jaromír Háček, Jakub Zieg   +3 more
doaj   +1 more source

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +5 more
doaj   +1 more source