A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.

Hdl Handle:
http://hdl.handle.net/10147/620577
Title:
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Authors:
Carrigan, Matthew; Duignan, Emma; Humphries, Pete; Palfi, Arpad; Kenna, Paul F; Farrar, G Jane
Citation:
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. 2016, 100 (4):495-500 Br J Ophthalmol
Journal:
The British journal of ophthalmology
Issue Date:
Apr-2016
URI:
http://hdl.handle.net/10147/620577
DOI:
10.1136/bjophthalmol-2015-306939
PubMed ID:
26472407
Additional Links:
http://bjo.bmj.com/content/100/4/495.long
Abstract:
The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa.
Item Type:
Article
Language:
en
Keywords:
GENETICS; EYE; OPHTHALMOLOGY
MeSH:
Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Base Sequence; Codon, Nonsense; DNA; Electroretinography; Eye Diseases, Hereditary; Eye Proteins; Female; Genetic Diseases, X-Linked; Heterotrimeric GTP-Binding Proteins; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Molecular Sequence Data; Myopia; Night Blindness; Retina; Retinitis Pigmentosa; Siblings; Tomography, Optical Coherence
ISSN:
1468-2079
Sponsors:
The authors would like to acknowledge grant awards from Fighting Blindness Ireland, The Health Research Board, The Medical Research Charities Group and Science Foundation Ireland.

Full metadata record

DC FieldValue Language
dc.contributor.authorCarrigan, Matthewen
dc.contributor.authorDuignan, Emmaen
dc.contributor.authorHumphries, Peteen
dc.contributor.authorPalfi, Arpaden
dc.contributor.authorKenna, Paul Fen
dc.contributor.authorFarrar, G Janeen
dc.date.accessioned2016-09-20T13:30:24Z-
dc.date.available2016-09-20T13:30:24Z-
dc.date.issued2016-04-
dc.identifier.citationA novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. 2016, 100 (4):495-500 Br J Ophthalmolen
dc.identifier.issn1468-2079-
dc.identifier.pmid26472407-
dc.identifier.doi10.1136/bjophthalmol-2015-306939-
dc.identifier.urihttp://hdl.handle.net/10147/620577-
dc.description.abstractThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa.en
dc.description.sponsorshipThe authors would like to acknowledge grant awards from Fighting Blindness Ireland, The Health Research Board, The Medical Research Charities Group and Science Foundation Ireland.en
dc.language.isoenen
dc.relation.urlhttp://bjo.bmj.com/content/100/4/495.longen
dc.rightsArchived with thanks to The British journal of ophthalmologyen
dc.subjectGENETICSen
dc.subjectEYEen
dc.subjectOPHTHALMOLOGYen
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshAged, 80 and over-
dc.subject.meshAmino Acid Sequence-
dc.subject.meshBase Sequence-
dc.subject.meshCodon, Nonsense-
dc.subject.meshDNA-
dc.subject.meshElectroretinography-
dc.subject.meshEye Diseases, Hereditary-
dc.subject.meshEye Proteins-
dc.subject.meshFemale-
dc.subject.meshGenetic Diseases, X-Linked-
dc.subject.meshHeterotrimeric GTP-Binding Proteins-
dc.subject.meshHigh-Throughput Nucleotide Sequencing-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshMolecular Sequence Data-
dc.subject.meshMyopia-
dc.subject.meshNight Blindness-
dc.subject.meshRetina-
dc.subject.meshRetinitis Pigmentosa-
dc.subject.meshSiblings-
dc.subject.meshTomography, Optical Coherence-
dc.titleA novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.en
dc.typeArticleen
dc.identifier.journalThe British journal of ophthalmologyen
dc.description.fundingOtheren
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen

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