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REEP6 gene

Known as: DELETED IN POLYPOSIS 1-LIKE 1, receptor accessory protein 6, FLJ25383 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†
Abstract Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified… 
2019
2019
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Purpose Usher syndrome (USH) is a rare disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss… 
2019
2019
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
Hereditary retinal dystrophy is clinically defined as a broad group of chronic and progressive disorders that affect visual… 
2018
2018
A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case
Rod‐cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders… 
2017
2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
Abstract Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in… 
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2017
2017
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival
Abstract In retinal photoreceptors, vectorial transport of cargo is critical for transduction of visual signals, and defects in… 
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Highly Cited
2016
Highly Cited
2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes… 
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2016
2016
The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression
Some G-protein-coupled receptors have been reported to require accessory proteins with specificity for proper functional… 
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2016
2016
Novel RS 1 Mutation in an Irish X-Linked Retinoschisis Cohort
Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked… 
2005
2005
Deleted in polyposis 1-like 1 gene (Dp1l1): a novel gene richly expressed in retinal ganglion cells.
PURPOSE To characterize a novel gene, deleted in polyposis 1-like 1 (Dp1l1), which is expressed in the retina. METHODS A… 
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