Search Results - "Escher, Pascal"

Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.

Authors: Foa, Nastasia Pfau, Maximilian Ansari, Georg et al.

Source: Ophthalmologica. 2025, Vol. 248 Issue 3, p175-184. 10p.

Variability in clinical phenotypes of PRPF8 -linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Authors: Escher, Pascal Passarin, Olga Munier, Francis L. et al.

Source: Ophthalmic Genetics. Jan/Feb2018, Vol. 39 Issue 1, p80-86. 7p.

Endothelial Toll-like receptor 4 is required for microglia activation in the murine retina after systemic lipopolysaccharide exposure.

Authors: Tsioti, Ioanna Steiner, Beatrice L. Escher, Pascal et al.

Source: Journal of Neuroinflammation. 2/4/2023, p1-14. 14p.

Fluorescence Lifetime Patterns of Retinal Pigment Epithelium Atrophy in Patients with Stargardt Disease and Age-Related Macular Degeneration.

Authors: Solberg, Yasmin Dysli, Chantal Escher, Pascal et al.

Source: Ophthalmologica. 2020, Vol. 243 Issue 3, p195-206. 12p.

Systemic Lipopolysaccharide Exposure Exacerbates Choroidal Neovascularization in Mice.

Authors: Tsioti, Ioanna Steiner, Beatrice L. Escher, Pascal et al.

Source: Ocular Immunology & Inflammation. Jan2024, Vol. 32 Issue 1, p19-30. 12p.

Author Correction: In vivo analysis of onset and progression of retinal degeneration in the Nr2e3^rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome.

Authors: Venturini, Giulia Kokona, Despina Steiner, Beatrice L. et al.

Source: Scientific Reports. 10/13/2021, Vol. 11 Issue 1, p1-1. 1p.

Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.

Authors: Escher, Pascal^1,2 (AUTHOR) pascal.escher@insel.ch

Source: Ophthalmic Genetics. Dec2019, Vol. 40 Issue 6, p591-591. 1p.

c.‐61G>A in OVOL2 is a pathogenic variant in posterior polymorphous corneal dystrophy 1—a case report.

Authors: Janeschitz‐Kriegl, Lucas Rivolta, Carlo György, Bence et al.

Source: Acta Ophthalmologica (1755375X). Jan2021 Supplement 1, Vol. 99, pN.PAG-N.PAG. 1p.

Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX.

Authors: Roduit, Raphael Escher, Pascal Schorderet, Daniel F.

Source: PLoS ONE. 2009, Vol. 4 Issue 10, p1-12. 12p. 2 Diagrams, 5 Graphs.

Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.

Authors: Vaclavik, Veronika Naderi, Francine Schaller, André et al.

Source: Ophthalmic Genetics. Feb2020, Vol. 41 Issue 1, p73-78. 6p.

Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease.

Authors: Cruz, Nelly M. Yuan, Yang Leehy, Barrett D. et al.

Source: PLoS ONE. Jan2014, Vol. 9 Issue 1, p1-9. 9p.

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina.

Authors: Mollema, Nissa J. Yuan, Yang Jelcick, Austin S. et al.

Source: PLoS ONE. 2011, Vol. 6 Issue 3, p1-10. 10p.

Colony-stimulating factor 1 receptor inhibition prevents disruption of the blood-retina barrier during chronic inflammation.

Authors: Kokona, Despina Ebneter, Andreas Escher, Pascal et al.

Source: Journal of Neuroinflammation. 12/12/2018, Vol. 15 Issue 1, pN.PAG-N.PAG. 1p.

Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.

Authors: Lorenz, Birgit Tavares, Joana van den Born, L. Ingeborgh et al.

Source: Ophthalmic research Mar2023; Vol. 66 (1).

Journal Info: Publisher: Karger AG ISSN: 0030-3747