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REEP6 gene
Known as:
DELETED IN POLYPOSIS 1-LIKE 1
, receptor accessory protein 6
, FLJ25383
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National Institutes of Health
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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†
D. Devlin
,
S. Zaneveld
,
+6 authors
Rui Chen
Biology of Reproduction
2020
Corpus ID: 211523783
Abstract Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified…
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2019
2019
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Carla Fuster-García
,
G. García-García
,
+6 authors
J. Millán
Investigative Ophthalmology and Visual Science
2019
Corpus ID: 208018917
Purpose Usher syndrome (USH) is a rare disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss…
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2019
2019
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
S. Zaneveld
,
A. Eblimit
,
+8 authors
Rui Chen
Human Gene Therapy
2019
Corpus ID: 51966467
Hereditary retinal dystrophy is clinically defined as a broad group of chronic and progressive disorders that affect visual…
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2018
2018
A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case
C. Méjécase
,
S. Mohand-Saïd
,
+8 authors
C. Zeitz
Clinical Genetics
2018
Corpus ID: 3586692
Rod‐cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders…
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2017
2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
S. Agrawal
,
T. Burgoyne
,
+13 authors
M. Cheetham
Human Molecular Genetics
2017
Corpus ID: 3543529
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
Shobi Veleri
,
J. Nellissery
,
+17 authors
A. Swaroop
Human Molecular Genetics
2017
Corpus ID: 13441355
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
G. Arno
,
S. Agrawal
,
+53 authors
Rui Chen
American Journal of Human Genetics
2016
Corpus ID: 21770669
2016
2016
The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression
Cho Rong Park
,
Dong‐Joo You
,
+8 authors
Jong-Ik Hwang
Scientific Reports
2016
Corpus ID: 9194972
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
M. Rayborn
,
D. Bacherini
,
+14 authors
S. Rizzo
2016
Corpus ID: 17075531
Program Number: 6585 Poster Board Number: D0356 Presentation Time: 11:00 AM–12:45 PM Novel RS1 Mutation in an Irish X-Linked…
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2005
2005
Deleted in polyposis 1-like 1 gene (Dp1l1): a novel gene richly expressed in retinal ganglion cells.
Hajime Sato
,
H. Tomita
,
T. Nakazawa
,
S. Wakana
,
M. Tamai
Investigative Ophthalmology and Visual Science
2005
Corpus ID: 23803224
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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