Results 81 to 90 of about 93,897 (194)
Kidney International ReportsIntroduction: 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 +15 more
doaj +1 more source
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
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
doaj +1 more source
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. [PDF]
Pediatr Nephrol, 2020 Beara-Lasic L +13 more
europepmc +2 more sources
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.
Lei Wei +8 more
doaj +1 more source
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification
Human Mutation, 2018 Dent disease is an X‐linked recessive renal tubular disorder characterized by low‐molecular‐weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Yohan Bignon +7 more
semanticscholar +1 more source
Advanced Functional Materials, EarlyView.A unidirectional cerebral organoid–organoid neural circuit is established using a microfluidic platform, enabling controlled directional propagation of electrical signals, neuroinflammatory cues, and neurodegenerative disease–related proteins between spatially separated organoids.
Kyeong Seob Hwang +9 more
wiley +1 more source
Severity of leaf diseases in maize inbred lines with different kernel hardness in two sowing seasons
Semina: Ciências Agrárias, 2018 Resistance of maize inbred lines to major leaf diseases should be characterized for the development of new hybrids in breeding programs. Thus, this study aimed to assess the severity of leaf diseases in maize inbredlines with different kernel hardnessand
Cecília Aparecida Spada +7 more
doaj +1 more source
Cell Communication and Signaling, 2023 Background This study aimed to identify an orcl1 mutation in a patient with Dent-2 Disease and investigate the underlying mechanisms. Methods The ocrl1 mutation was identified through exome sequencing.
Limin Huang +4 more
doaj +1 more source
Generating Cell Surface Nucleated Hydrogels with an Artificial Membrane‐Binding Transglutaminase
Advanced Functional Materials, EarlyView.Cell‐based therapies require advanced strategies to enhance cell delivery and bioactivity. Cell membrane engineering offers an avenue to impart new functions to delivered cells to boost their viability and function. Here, an artificial membrane‐binding transglutaminase is generated and biophysically characterized.
Rosalia Cuahtecontzi Delint +6 more
wiley +1 more source