Results 31 to 40 of about 1,632 (161)

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractDisturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking
Richard J, Schroer, Arthur L, Beaudet, Marwan, Shinawi, Trilochan, Sahoo, Ankita, Patel, Qin, Sun, Cindy, Skinner, Roger E, Stevenson   +7 more
openaire   +2 more sources

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, Pietro, De Camilli   +1 more
openaire   +2 more sources

Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

Saudi Journal of Kidney Diseases and Transplantation, 2020
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal   +5 more
doaj   +1 more source

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Heliyon, 2022
Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at ...
Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems   +9 more
doaj   +1 more source

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy [PDF]

Journal of the American Society of Nephrology, 2016
Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its ...
Kazunori, Inoue, Daniel M, Balkin, Lijuan, Liu, Ramiro, Nandez, Yumei, Wu, Xuefei, Tian, Tong, Wang, Robert, Nussbaum, Pietro, De Camilli, Shuta, Ishibe   +9 more
openaire   +2 more sources

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

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   +1 more source

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene [PDF]

Journal of Child Science, 2021
AbstractLowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection,
Akanksha C. Parikh, Pradnya Gadgil
openaire   +1 more source

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   +1 more source

A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway [PDF]

Developmental Cell, 2007
Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retardation and renal Fanconi syndrome. OCRL has been implicated in membrane trafficking, but disease mechanisms remain unclear. We show that OCRL visits late-stage, endocytic clathrin-coated pits and binds the Rab5 effector APPL1 on ...
Erdmann, Kai S., Mao, Yuxin, McCrea, Heather J., Zoncu, Roberto, Lee, Sangyoon, Paradise, Summer, Modregger, Jan, Biemesderfer, Daniel, Toomre, Derek, De Camilli, Pietro   +9 more
openaire   +2 more sources

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells

Molecular Autism, 2018
Background Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase.
Jesse Barnes, Franklin Salas, Ryan Mokhtari, Hedwig Dolstra, Erika Pedrosa, Herbert M. Lachman   +5 more
doaj   +1 more source