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260 results on '"Cyclic Nucleotide Phosphodiesterases, Type 6 genetics"'

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1. GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

2. Metabolic plasticity in a Pde6b STOP/STOP retinitis pigmentosa mouse model following rescue.

3. Proteomics identifies multiple retinitis pigmentosa associated proteins involved in retinal degeneration in a mouse model bearing a Pde6b mutation.

4. A New Mouse Model for Usher Syndrome Crossing Kunming Mice with CBA/J Mice.

5. Phenotypic characteristics of Danish patients with achromatopsia.

6. Analysis of PDE6G mutations in a patient with retinitis pigmentosa.

7. THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

8. A combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models.

9. Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.

10. Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

11. Establishment and visual analysis of CBA/J-Pde6b Y347Y/Y347X and C3H/HeJ-Pde6b Y347Y/Y347X mice.

12. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

13. The m 6 A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B.

14. Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function.

15. Prenylation is essential for the enrichment of cone phosphodiesterase-6 (PDE6) in outer segments and efficient cone phototransduction.

16. Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.

17. A new mutation in the PDE6C gene in achromatopsia.

18. Chromatic Pupillometry as a Putative Screening Tool for Heritable Retinal Disease in Rhesus Macaques.

19. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

20. HSP90α is needed for the survival of rod photoreceptors and regulates the expression of rod PDE6 subunits.

21. Characterization of a novel Pde6b-deficient rat model of retinal degeneration and treatment with adeno-associated virus (AAV) gene therapy.

22. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

23. A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

24. Elevated retinal cGMP is not associated with elevated circulating cGMP levels in a canine model of retinitis pigmentosa.

25. Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.

26. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.

27. Integrative RNA-seq and ATAC-seq analyses of phosphodiesterase 6 mutation-induced retinitis pigmentosa.

28. An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas.

29. Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.

30. Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects.

31. Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model.

32. Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

33. Exogenous PDE5 Expression Rescues Photoreceptors in RD1 Mice.

34. Functional Availability of ON-Bipolar Cells in the Degenerated Retina: Timing and Longevity of an Optogenetic Gene Therapy.

35. PDE6B Mutation-associated Inherited Retinal Disease.

36. Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa.

37. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.

38. Knockout of Ca V 1.3 L-type calcium channels in a mouse model of retinitis pigmentosa.

39. Large-scale phenotypic drug screen identifies neuroprotectants in zebrafish and mouse models of retinitis pigmentosa.

40. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

41. Functional modulation of phosphodiesterase-6 by calcium in mouse rod photoreceptors.

42. The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.

43. P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.

44. Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.

45. Metabolic Analysis of Vitreous/Lens and Retina in Wild Type and Retinal Degeneration Mice.

46. Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.

47. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.

48. Short prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration.

49. Two novel PDE6C gene mutations in Chinese family with achromatopsia.

50. An open platform system based on SNP type genetic markers for discrimination between Alectoris rufa and Alectoris chukar.

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