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The oculocerebrorenal syndrome of Lowe: an update. [PDF]

Pediatr Nephrol, 2016
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete ...
Bökenkamp A, Ludwig M.
europepmc   +9 more sources

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe. [PDF]

J Radiol Case Rep, 2014
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented.
Allmendinger AM, Desai NS, Burke AT, Viswanadhan N, Prabhu S.   +4 more
europepmc   +5 more sources

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review [PDF]

BMC Medical Genomics, 2021
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou   +6 more
doaj   +2 more sources

Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases [PDF]

Brazilian Journal of Nephrology, 2010
INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi. OBJETIVO:
Marta Liliane de Almeida Maia, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani, Fernanda Alves Thomaz Fernandes, Maria Cristina de Andrade, João Tomás de Abreu Carvalhaes   +5 more
doaj   +4 more sources

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, Teodora Karamfilova, Mariya Levkova, Mariya Gaydarova, Sonya Galcheva, Dimitrichka Bliznakova   +5 more
doaj   +2 more sources

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis [PDF]

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +2 more sources

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management. [PDF]

Eur J Ophthalmol, 2020
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 patients.
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y, Sun Y.   +8 more
europepmc   +4 more sources

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. [PDF]

PLoS ONE, 2013
Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents ...
Na Luo, Akhilesh Kumar, Michael Conwell, Robert N Weinreb, Ryan Anderson, Yang Sun   +5 more
doaj   +2 more sources

Loss of OCRL increases ciliary PI(4,5)P₂ in Lowe oculocerebrorenal syndrome. [PDF]

J Cell Sci, 2017
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2,
Prosseda PP, Luo N, Wang B, Alvarado JA, Hu Y, Sun Y.   +5 more
europepmc   +3 more sources

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions [PDF]

Kidney International Reports
Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in
Rini Rossanti, Eri Okada, Nana Sakakibara, Ryota Suzuki, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu   +15 more
doaj   +2 more sources