Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
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Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsTransplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa.EnRICH: Extraction and Ranking using Integration and Criteria HeuristicsshRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosaStrains and stressors: an analysis of touchscreen learning in genetically diverse mouse strains.Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling.Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 miceA novel mutation and phenotypes in phosphodiesterase 6 deficiency.Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).Cellular and molecular origin of circumpapillary dysgenesis of the pigment epithelium.The retinal cGMP phosphodiesterase gamma-subunit - a chameleonPhenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190NFunctional architecture of the retina: development and disease.Lentivirus-mediated expression of cDNA and shRNA slows degeneration in retinitis pigmentosa.Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis).The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.Light-dependent phosphorylation of the gamma subunit of cGMP-phophodiesterase (PDE6gamma) at residue threonine 22 in intact photoreceptor neurons.Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Rod metabolic demand drives progression in retinopathies.Mouse eye enucleation for remote high-throughput phenotyping.Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.Insight into the molecular genetics of myopia.Mechanisms of mutant PDE6 proteins underlying retinal diseases.Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
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P2860
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on March 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Transgenic mice carrying the H ...... al stationary night blindness.
@en
Transgenic mice carrying the H ...... subunit of phosphodiesterase-6
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type
label
Transgenic mice carrying the H ...... al stationary night blindness.
@en
Transgenic mice carrying the H ...... subunit of phosphodiesterase-6
@nl
prefLabel
Transgenic mice carrying the H ...... al stationary night blindness.
@en
Transgenic mice carrying the H ...... subunit of phosphodiesterase-6
@nl
P2093
P2860
P356
P1433
P1476
Transgenic mice carrying the H ...... al stationary night blindness.
@en
P2093
Chyuan-Sheng Lin
Clyde K Yamashita
Debora B Farber
Michael L Woodruff
Michael Larsen
Robert Pedersen
Stephen H Tsang
Stephen P Goff
Steven Nusinowitz
P2860
P304
P356
10.1002/HUMU.20425
P577
2007-03-01T00:00:00Z