Results 21 to 30 of about 1,383 (138)

Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer’s Disease: Implications for Autophagy Dysfunction [PDF]

International Journal of Molecular Sciences
Jean-Pierre Brion, Karelle Leroy, Katia Coulonval   +2 more
exaly   +2 more sources

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

Stem Cell Research, 2021
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated.
Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo   +6 more
doaj   +1 more source

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes [PDF]

European Journal of Human Genetics, 2012
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations.
Maria Addis, Cristiana Meloni, TOSETTO, ENRICA, CEOL, MONICA, CRISTOFARO, ROSALBA, Maria Antonietta Melis, Paolo Vercelloni, DEL PRETE, DORELLA, Giuseppina Marra, ANGLANI, FRANCA   +9 more
openaire   +4 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

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

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   +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

Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis [PDF]

International Journal of Ophthalmology, 2023
AIM: To explore the hotspots and frontiers of genetic research on pediatric cataracts. METHODS: Global publications from 2013 to 2022 related to genes in pediatric cataracts were extracted from the Web of Science Core Collection, and were analyzed in ...
Yuan Tan, Wei Jiang, Le-Yi Hu, Yan-Yu Shen, Hui Chen, Ying-Shi Zou, Li-Xia Luo, Guang-Ming Jin, Zhen-Zhen Liu   +8 more
doaj   +1 more source

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

A Splicing Variant in OCRL Gene Might Explain the Second Case of Lowe Syndrome in Iran

Journal of Human Genetics and Genomics, 2020
: Lowe syndrome is a condition that primarily affects eyes, brain, and kidneys. This disorder follows X-linked recessive mode of inheritance and it occurs in males mainly. Mutations in OCRL (located at Xq25) gene can cause accumulation of phosphatidylinositol bisphosphate and disturbed actin cytoskeleton remodeling. There are 268 mutations in OCRL gene
Massoud Houshmand, Gholamreza Babamohammadi, Hamidreza Moazzeni, Ahmad Reza Salehi Chaleshtori, Mohammad taghi Akbari   +4 more
openaire   +2 more sources

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

Journal of Neurodevelopmental Disorders, 2020
Background Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization.
Hequn Liu, Jesse Barnes, Erika Pedrosa, Nathaniel S. Herman, Franklin Salas, Ping Wang, Deyou Zheng, Herbert M. Lachman   +7 more
doaj   +1 more source