Results 11 to 20 of about 4,156 (218)

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   +3 more sources

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants [PDF]

Renal Failure
Objective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD.
Xinyi Jiang, Hongzhou Lin, Qifan Zhu, Huihui Chen, Yutong Huang, Xiu-Feng Huang, Dexuan Wang   +6 more
doaj   +3 more sources

Assessment of endocytic traffic and Ocrl function in the developing zebrafish neuroepithelium

Journal of Cell Science, 2022
Endocytosis is a vital process, required during development and for maintenance of tissue homeostasis, that allows cells to internalize a wide range of molecules from their environment as well maintain their plasma membrane composition.
Daniel M. Williams, Lale Gungordu, Anthony Jackson-Crawford, M. Lowe   +3 more
semanticscholar   +4 more sources

OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP‐mediated microtubule anchoring

EMBO reports, 2021
Lysosomal positioning and mTOR (mammalian target of rapamycin) signaling coordinate cellular responses to nutrient levels. Inadequate nutrient sensing can result in growth delays, a hallmark of Lowe syndrome.
Biao Wang, Wei He, Philipp P. Prosseda, Liang Li, Tia J Kowal, J. Alvarado, Qing Wang, Yang Hu, Yang Sun   +8 more
semanticscholar   +3 more sources

dOCRL maintains immune cell quiescence by regulating endosomal traffic. [PDF]

PLoS Genetics, 2017
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL.
Steven J Del Signore, Sarah A Biber, Katherine S Lehmann, Stephanie R Heimler, Benjamin H Rosenfeld, Tania L Eskin, Sean T Sweeney, Avital A Rodal   +7 more
doaj   +4 more sources

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +2 more sources

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Genes, 2021
Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present
Lisa Gianesello, Dorella Del Prete, Giovanna Priante   +2 more
exaly   +2 more sources

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)

Stem Cell Research, 2021
Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.
Rengchen Qian, Long Wang, Huihui Chen, Yinjuan Ding, Dexuan Wang, Congde Chen, Maoping Chu, Xiaoou Shan, Xiaoling Guo   +8 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

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome [PDF]

EMBO Molecular Medicine
Coordination of cellular and physiological development by signaling is required for normal brain structure and function. Mutations in OCRL, a phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2], 5-phosphatase leads to Lowe Syndrome (LS).
Yojet Sharma, Priyanka Bhatia, Gagana Rangappa, Sankhanil Saha, Padinjat Raghu   +4 more
doaj   +3 more sources