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Visual Psychophysics and Physiological Optics November 2021

Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus

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Julien Fars; Francesca Pasutto; Jan Kremers; Cord Huchzermeyer
TAGS: contrast sensitivity, mandibulofacial dysostosis, photoreceptors, retinal cone, rod photoreceptors, stargardt's disease, scanning laser ophthalmoscopy
Invest. Ophthalmol. Vis. Sci.. 2021; 62(14):24. doi: https://doi.org/10.1167/iovs.62.14.24

ARVO Annual Meeting Abstract June 2020

Analysis of genetically determined gene expression suggest role of inflammatory processes in etiology of exfoliation syndrome

Jibril Hirbo; Francesca Pasutto; Julia Sealock; Patrick Evans; Priyanka Pawar; Ran Tao; Peter Straub; Max Breyer; Daniel Berner; Andre Reis; Ursula Schlötzer-Schrehardt; CC Khor; Eric Gamazon; Milam A Brantley; Karen M Joos; Nancy Cox

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1255. doi:

ARVO Annual Meeting Abstract July 2019

Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1

Daniel Berner; Ursula Hoja; Matthias Zenkel; Francesca Pasutto; Mei Chin Lee; Tin Aung; Chiea Chuen Khor; André Reis; Friedrich E Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1612. doi:

ARVO Annual Meeting Abstract July 2019

A potential role for impaired retinoic acid signaling in the pathophysiology of pseudoexfoliation syndrome/glaucoma

Matthias Zenkel; Daniel Berner; Ursula Hoja; Francesca Pasutto; Friedrich E Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5666. doi:

ARVO Annual Meeting Abstract July 2019

Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene Expression

Jibril Hirbo; Francesca Pasutto; Priyanka Pawar; Julia Sealock; Patrick Evans; Eric Gamazon; Ran Tao; André Reis; Daniel Berner; Ursula Schlotzer-Schrehardt; Milam A Brantley; Chiea Chuen Khor; Nancy Cox; Karen M Joos

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6072. doi:

ARVO Annual Meeting Abstract July 2018

RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects

Francesca Pasutto; Matthias Zenkel; Daniel Berner; Steffen Uebe; Arif Ekici; Friedrich E Kruse; Andre Reis; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3019. doi:

ARVO Annual Meeting Abstract July 2018

Nutritional and hormonal regulation of lysyl oxidase-like 1 and elastic proteins involved in pseudoexfoliation syndrome/glaucoma

Matthias Zenkel; Daniel Berner; Ursula Hoja; Francesca Pasutto; Friedrich E Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3513. doi:

ARVO Annual Meeting Abstract July 2018

Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1

Daniel Berner; Francesca Pasutto; Ursula Hoja; Matthias Zenkel; Mineo Ozaki; Susan Williams; Michele Ramsay; Trevor R Carmichael; Friedrich E Kruse; Tin Aung; Chiea Chuen Khor; Andre Reis; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3515. doi:

Glaucoma November 2017

Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response

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Daniel Berner; Matthias Zenkel; Francesca Pasutto; Ursula Hoja; Panah Liravi; Gabriele C. Gusek-Schneider; Friedrich E. Kruse; Johannes Schödel; Andre Reis; Ursula Schlötzer-Schrehardt
TAGS: alternative splicing, body tissue, regulation, rna, messenger, stress response, caffeine, syndrome, western blotting, proteins, stress
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5930-5940. doi: https://doi.org/10.1167/iovs.17-22963

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

L- and M-cone driven temporal contrast sensitivity is reduced at low frequencies in patients with Stargardt’s disease

Cord R H Huchzermeyer; Francesca Pasutto; André Reis; Jan J Kremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4299. doi:

ARVO Annual Meeting Abstract June 2017

Dysregulated expression of POMP and TMEM136 may contribute to impaired proteasome function and endothelial dysfunction in eyes with pseudoexfoliation syndrome/glaucoma

Matthias Zenkel; Ursula Schlotzer-Schrehardt; Daniel Berner; Friedrich E Kruse; André Reis; Chiea Chuen Khor; Tin Aung; Francesca Pasutto

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4902. doi:

ARVO Annual Meeting Abstract June 2017

Alternative splicing and nonsense-mediated mRNA decay contribute to regulation of LOXL1 expression in response to cellular stress in pseudoexfoliation

Daniel Berner; Matthias Zenkel; Francesca Pasutto; Johannes Schödel; André Reis; Friedrich E Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4909. doi:

ARVO Annual Meeting Abstract September 2016

World-wide genome-wide association study for exfoliation syndrome identifies 4 novel genetic loci.

Tin Aung; Mineo Ozaki; Francesca Pasutto; Rand R Allingham; Unnur Thorsteinsdottir; Jamie E Craig; Fotis Topouzis; Yuri Astakhov; Periasamy Sundaresan; Chiea-Chuen Khor

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.

Mineo Ozaki; Francesca Pasutto; Takanori Mizoguchi; Michael A Hauser; Fotis Topouzis; Michael Dubina; Deepak P Edward; Ningli Wang; Tin Aung; Chiea Chuen Khor

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):788. doi:

ARVO Annual Meeting Abstract September 2016

LOXL1 intronic variants influence LOXL1 expression through differential transcription factor binding in pseudoexfoliation syndrome/glaucoma

Ursula Schlötzer-Schrehardt; Matthias Zenkel; Ursula Hoja; Mineo Ozaki; Tin Aung; Chiea-Chuen Khor; Friedrich E Kruse; Andre Reis; Francesca Pasutto

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):789. doi:

ARVO Annual Meeting Abstract September 2016

Expression of CACNA1A in Patients with Pseudoexfoliation Syndrome

Matthias Zenkel; Francesca Pasutto; Antonio Bergua; Panah Liravi; Steffen Uebe; Fulvia Ortolani; Friedrich E Kruse; Ursula Schlötzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5997. doi:

ARVO Annual Meeting Abstract September 2016

Mutations in a new gene cause glaucoma with variable onset

Stuart W. J. Tompson; Tomokazu Souma; Owen M. Siggs; Sebastian Maurer-Stroh; Kristina N. Whisenhunt; Janey L Wiggs; Francesca Pasutto; Jamie E Craig; Susan E. Quaggin; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):799. doi:

ARVO Annual Meeting Abstract September 2016

Loss of function variants in a new gene increase risk for primary congenital glaucoma with variable expressivity

Terri L Young; Stuart W. J. Tompson; Benjamin R. Thomson; Owen M. Siggs; Vachiranee Limviphuvadh; Kristina N. Whisenhunt; Janey L Wiggs; Jamie E Craig; Susan E. Quaggin; Francesca Pasutto

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):800. doi:

ARVO Annual Meeting Abstract June 2015

Functional regulatory variants of LOXL1 contribute to dysregulated expression of lysyl oxidase-like 1 in pseudoexfoliation syndrome/glaucoma

Matthias Zenkel; Francesca Pasutto; Panah Liravi; Steffen Uebe; Friedrich E Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4381. doi:

ARVO Annual Meeting Abstract June 2013

Candidate regulatory lysyl oxidase-like 1 (LOXL1) variants in pseudoexfoliation syndrome/glaucoma are associated with differential LOXL1 expression

Matthias Zenkel; Francesca Pasutto; Jasmine Onderka; Anita Krysta; Angelika Moessner; Friedrich Kruse; Ursula Schlotzer-Schrehardt

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):6243. doi:

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Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus

Analysis of genetically determined gene expression suggest role of inflammatory processes in etiology of exfoliation syndrome

Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1

A potential role for impaired retinoic acid signaling in the pathophysiology of pseudoexfoliation syndrome/glaucoma

Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene Expression

RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects

Nutritional and hormonal regulation of lysyl oxidase-like 1 and elastic proteins involved in pseudoexfoliation syndrome/glaucoma

Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1

Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response

L- and M-cone driven temporal contrast sensitivity is reduced at low frequencies in patients with Stargardt’s disease

Dysregulated expression of POMP and TMEM136 may contribute to impaired proteasome function and endothelial dysfunction in eyes with pseudoexfoliation syndrome/glaucoma

Alternative splicing and nonsense-mediated mRNA decay contribute to regulation of LOXL1 expression in response to cellular stress in pseudoexfoliation

World-wide genome-wide association study for exfoliation syndrome identifies 4 novel genetic loci.

Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.

LOXL1 intronic variants influence LOXL1 expression through differential transcription factor binding in pseudoexfoliation syndrome/glaucoma

Expression of CACNA1A in Patients with Pseudoexfoliation Syndrome

Mutations in a new gene cause glaucoma with variable onset

Loss of function variants in a new gene increase risk for primary congenital glaucoma with variable expressivity

Functional regulatory variants of LOXL1 contribute to dysregulated expression of lysyl oxidase-like 1 in pseudoexfoliation syndrome/glaucoma

Candidate regulatory lysyl oxidase-like 1 (LOXL1) variants in pseudoexfoliation syndrome/glaucoma are associated with differential LOXL1 expression

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