Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

scientific article

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode1993PNAS...90.3968S
P356DOI10.1073/PNAS.90.9.3968
P932PMC publication ID46427
P698PubMed publication ID8387203
P5875ResearchGate publication ID14812510

P2093author name stringW Baehr
C M Craft
R H Lee
R L Hurwitz
V Holcombe
S J Pittler
N Qin
R N Lolley
G C Wright
M L Suber
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Rhodopsin mutations in autosomal dominant retinitis pigmentosaQ24564252
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3Q24628626
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosaQ24669855
In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunitsQ28208628
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosaQ28252073
Posttranslational modification of proteins by isoprenoids in mammalian cellsQ28303329
In vivo farnesylation of rat rhodopsin kinaseQ28568707
Degenerations of the dog retina. II. Generalized progressive atrophy of hereditary originQ34246871
Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene productQ34333966
The molecular genetics of retinal photoreceptor proteins involved in cGMP metabolismQ34530072
Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouseQ37596482
Multiple isozymes of cyclic nucleotide phosphodiesteraseQ39315132
A review of the role of cyclic GMP in neurological mutants with photoreceptor dysplasiaQ39495889
Rod-Cone Dysplasia in Irish Setters: A Defect in Cyclic GMP Metabolism in Visual CellsQ40168119
Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segmentsQ40267759
Random-primed cDNA synthesis facilitates the isolation of multiple 5'-cDNA ends by RACE.Q40505475
Retinal degenerations in the dog. I. Rod dysplasiaQ43693064
The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1Q46168845
Involvement of cyclic GMP phosphodiesterase activator in an hereditary retinal degenerationQ47982265
Mouse opsin. Gene structure and molecular basis of multiple transcriptsQ48247850
Phosphodiesterase-probes show distinct defects in rd mice and Irish setter dog disorders.Q48442820
In vitro isoprenylation and membrane association of mouse rod photoreceptor cGMP phosphodiesterase alpha and beta subunits expressed in bacteria.Q48491507
Retinal degenerations in the dog III abnormal cyclic nucleotide metabolism in rod-cone dysplasiaQ67255562
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosaQ67482922
Activation and solubilization of the retinal cGMP-specific phosphodiesterase by limited proteolysis. Role of the C-terminal domain of the beta-subunitQ68244704
cGMP phosphodiesterase in rod and cone outer segments of the retinaQ70077153
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)3968-3972
P577publication date1993-05-01
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleIrish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene
P478volume90

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cites work (P2860)
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