527 results on '"Roepman, Ronald"'
Search Results
2. Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
3. DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2
4. Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation
5. Primary cilia sense glutamine availability and respond via asparagine synthetase
6. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
7. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
8. CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
9. Artificial intelligence: A powerful paradigm for scientific research
10. Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
11. A look into retinal organoids: methods, analytical techniques, and applications
12. Moonlighting of mitotic regulators in cilium disassembly
13. Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation
14. A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth
15. Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia
16. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
17. DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2
18. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
19. A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
20. Non-syndromic retinitis pigmentosa
21. Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
22. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations
23. DLG1 functions upstream of SDCCAG3 and IFT20 to control targeting of polycystin-2 to the primary cilium
24. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
25. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
26. Novel GANAB variants associated with polycystic liver disease
27. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
28. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
29. A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome
30. Gene augmentation of LCA5-Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
31. Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
32. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function
33. A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome
34. Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy
35. PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
36. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
37. Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
38. Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry
39. Polycystic liver disease: ductal plate malformation and the primary cilium
40. Protein Networks and Complexes in Photoreceptor Cilia
41. Utilization of automated cilia analysis to characterize novel INPP5Evariants in patients with non-syndromic retinitis pigmentosa
42. Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling
43. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
44. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
45. A defective structural zipper in photoreceptors causes inherited blindness
46. Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
47. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
48. PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion
49. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
50. Human CRB2 Inhibits γ-Secretase Cleavage of Amyloid Precursor Protein by Binding to the Presenilin Complex
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