117 results on '"Roepman, Ronald"'
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2. Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
3. Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation
4. A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth
5. DLG1 functions upstream of SDCCAG3 and IFT20 to control targeting of polycystin-2 to the primary cilium
6. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
7. CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
8. Gene augmentation of LCA5-Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
9. Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
10. Primary cilia sense glutamine availability and respond via asparagine synthetase
11. A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome
12. Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy
13. PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
14. A defective structural zipper in photoreceptors causes inherited blindness
15. PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion
16. Artificial intelligence: A powerful paradigm for scientific research
17. A look into retinal organoids: methods, analytical techniques, and applications
18. Leber congenital amaurosis and other non-syndromic retinal ciliopathies
19. Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
20. Moonlighting of mitotic regulators in cilium disassembly
21. Tandem Affinity Purification of Ciliopathy-Associated Protein Complexes
22. Versatile Screening for Binary Protein-Protein Interactions by Yeast Two-Hybrid Mating
23. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
24. Novel GANAB variants associated with polycystic liver disease
25. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
26. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
27. [45] Isolation of retinal proteins that interact with retinitis pigmentosa gtpase regulator by interaction trap screen in yeast
28. Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia
29. ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability
30. A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
31. Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease
32. CiliaCarta: An integrated and validated compendium of ciliary genes
33. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
34. Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction
35. Non-syndromic retinitis pigmentosa
36. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
37. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
38. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium
39. Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
40. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
41. Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
42. Functional analyses of Pericentrin and Syne-2/Nesprin-2 interaction in ciliogenesis
43. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
44. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
45. Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling
46. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
47. Missense mutations in the WD40 domain ofAHI1cause non-syndromic retinitis pigmentosa
48. CiliaCarta: an integrated and validated compendium of ciliary genes
49. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
50. Fluid shear stress increases transepithelial transport of Ca 2+ in ciliated distal convoluted and connecting tubule cells
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