Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
about
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosaAssociation of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic diseaseLinkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humansMüller glia activation in response to inherited retinal degeneration is highly varied and disease-specificRestoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophyReview: the history and role of naturally occurring mouse models with Pde6b mutationsCharacterization of TbPDE2A, a novel cyclic nucleotide-specific phosphodiesterase from the protozoan parasite Trypanosoma brucei.A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa.Transcriptional activation of the human rod cGMP-phosphodiesterase beta-subunit gene is mediated by an upstream AP-1 element.Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation.A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse.Therapeutic margins in a novel preclinical model of retinitis pigmentosa.Reprogramming Müller glia via in vivo cell fusion regenerates murine photoreceptors.Novel mutations in PDE6B causing human retinitis pigmentosaNon-invasive gene transfer by iontophoresis for therapy of an inherited retinal degenerationFunctional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.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.Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase.Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingAAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6β-deficient Dogs.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer.Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration.Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
P2860
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P2860
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
description
1995 nî lūn-bûn
@nan
1995 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@ast
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@en
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@nl
type
label
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@ast
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@en
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@nl
prefLabel
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@ast
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@en
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@nl
P2093
P356
P1433
P1476
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
@en
P2093
P356
10.1006/GENO.1995.0001
P407
P577
1995-11-01T00:00:00Z