Results 41 to 50 of about 4,156 (218)
Molecular Biology of the Cell, 2019 Mutations of the inositol 5-phosphatase OCRL cause Lowe Syndrome (LS), characterized by congenital cataract, low IQ and defective kidney proximal tubule resorption.
A. Luscher +13 more
semanticscholar +5 more sources
Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study [PDF]
BMC Pregnancy and ChildbirthBackground With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected.
Jianlong Zhuang +6 more
doaj +2 more sources
Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome
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
doaj +1 more source
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
core +4 more sources
Journal of Cell Science, 2021 Rab5 is required for macropinosome formation, but its site and mode of action remain unknown. We report that Rab5 acts at the plasma membrane, downstream of ruffling, to promote macropinosome sealing and scission.
Michelle E. Maxson +4 more
semanticscholar +1 more source
Chronic renal failure revealing a Lowe’s syndrome. First case report from an Algerian family. [PDF]
Batna Journal of Medical Sciences, 2023 The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1.
Ghalia Khellaf +4 more
doaj +1 more source
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL [PDF]
Trends in Biochemical Sciences, 2012 The precise regulation of phosphoinositide lipids in cellular membranes is crucial for cellular survival and function. Inositol 5-phosphatases have been implicated in a variety of disorders, including various cancers, obesity, type 2 diabetes, neurodegenerative diseases and rare genetic conditions. Despite the obvious impact on human health, relatively
Michelle, Pirruccello +1 more
openaire +2 more sources
eLife, 2014 Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular ...
Ramiro Nández +9 more
doaj +1 more source
X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice [PDF]
Mammalian Genome, 2010 Mutations in the human OCRL gene, which encodes a phosphatidylinositol(4,5)bisphosphate 5-phosphatase, result in the X-linked oculocerebrorenal syndrome of Lowe. Mice with a targeted disruption of Ocrl have no phenotypic abnormalities. Targeted disruption of its closest paralog, Inpp5b, causes male infertility in the 129S6 background.
Bernard, David J., Nussbaum, Robert L.
openaire +4 more sources
Living on soup:Macropinocytic feeding in amoebae [PDF]
, 2019 Macropinocytosis is used by a variety of amoebae for feeding on liquid medium. The amoebae project cups and ruffles from their plasma membrane, driven by actin polymerization, and eventually fuse these back to the membrane, entrapping droplets of medium ...
Kay, Robert R. +4 more
core +2 more sources