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OCRL gene

Known as: OCRL, OCRL1, oculocerebrorenal syndrome of Lowe 
National Institutes of Health

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Oculocerebrorenal Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome
Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys… 
2016
2016
Can the cargo control the car? Mitochondrial DNA as a stimulator of TLR9-mediated autophagosome–lysosome fusion
Can the cargo control the car? Mitochondrial DNA as a stimulator of TLR9-mediated autophagosome–lysosome fusion 
Review
2015
Review
2015
The role of the Lowe syndrome protein OCRL in the endocytic pathway
Abstract Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders… 
Review
2013
Review
2013
Novel OCRL mutations in Chinese children with Lowe syndrome
BackgroundLowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an… 
2012
2012
A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL
Abstract Background: The oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder characterized by the triad of… 
2012
2012
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome
Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated… 
2012
2012
2012 Landes Bioscience. Do not distribute. The unexpected role of Drosophila OCRL during cytokinesis
2011
2011
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts
BackgroundOculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy… 
2000
2000
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome
The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X‐linked multisystem disorder affecting the lens, kidney and brain. The… 
2000
2000
Unusual renal features of Lowe syndrome in a mildly affected boy.
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, mental retardation… 
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