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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing lossIn Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone PhotoreceptorsThe retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Gene therapy for achromatopsia.The glutamic acid-rich protein is a gating inhibitor of cyclic nucleotide-gated channels.AAV Vectors for FRET-Based Analysis of Protein-Protein Interactions in Photoreceptor Outer Segments.Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa.Altered synaptic plasticity and behavioral abnormalities in CNGA3-deficient mice.Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice.Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa.Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa.Physiological roles of cGMP-gated channels: lessons from mouse models and human channelopathies.Disturbed Processing of Contextual Information in HCN3 Channel Deficient Mice.Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.Sick sinus syndrome in HCN1-deficient mice.Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesisPeripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptorsAccessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy
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description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-8801-0649
@en
name
Elvir Becirovic
@ast
Elvir Becirovic
@en
Elvir Becirovic
@es
Elvir Becirovic
@nl
type
label
Elvir Becirovic
@ast
Elvir Becirovic
@en
Elvir Becirovic
@es
Elvir Becirovic
@nl
prefLabel
Elvir Becirovic
@ast
Elvir Becirovic
@en
Elvir Becirovic
@es
Elvir Becirovic
@nl
P106
P31
P496
0000-0001-8801-0649