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Genetics July 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

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Kristyna Brejchova; Lubica Dudakova; Pavlina Skalicka; Robert Dobrovolny; Petr Masek; Martina Putzova; Mariya Moosajee; Stephen J. Tuft; Alice E. Davidson; Petra Liskova
TAGS: biological models, cornea, endothelium, heterogeneous nuclear rna, rna splicing, proband, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3084-3090. doi: 10.1167/iovs.19-26930

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

Adam M Dubis; Andreas Mitsios; Maria Toms; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1564. doi:

ARVO Annual Meeting Abstract July 2018

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Mariya Moosajee; Rose Richardson; Andreas Mitsios; Alessandro Abbouda; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4492. doi:

ARVO Annual Meeting Abstract July 2018

Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

Maria Toms; Matthew Hayes; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4968. doi:

ARVO Annual Meeting Abstract July 2018

Combined nonsense mediated decay inhibition and suppression as a treatment approach for choroideremia

Mohamed Ali; Dhani Tracey-White; Matthew Smart; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5314. doi:

ARVO Annual Meeting Abstract June 2017

Comparison of zebrafish retinal proteins during experimental degeneration and regeneration using quantitative proteomics

Karen Eastlake; Wendy Heywood; Dhani C Tracey-White; Erika Aquino; Emily Bliss; Gerardo Vasta; Kevin Mills; Peng Tee Khaw; Mariya Moosajee; G. Astrid Limb

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):365. doi:

ARVO Annual Meeting Abstract June 2017

COMPREHENSIVE ANALYSIS OF PTC-124 THERAPY FOR CHOROIDEREMIA

Simona Torriano; Nejla Erkilic; David Baux; Valerie de Luca; Nicholas Cereso; Mariya Moosajee; Christian P Hamel; Anne-Francoise Roux; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):622. doi:

ARVO Annual Meeting Abstract September 2016

Comparative analysis of small molecule drugs for nonsense suppression therapy in Choroideremia

Mariya Moosajee; Dhani Tracey-White; Matthew Smart; Carmen Bertoni; Timor Baasov; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1105. doi:

ARVO Annual Meeting Abstract September 2016

Comparative proteomic analysis between the degenerated human and zebrafish retina

Karen Eastlake; Wendy Heywood; Dhani Tracey-White; Mariya Moosajee; Kevin Mills; Philip Banerjee; David G Charteris; Peng Tee Khaw; G. Astrid Limb

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2249. doi:

ARVO Annual Meeting Abstract September 2016

Longitudinal phenotypic analysis of the early onset retinal degeneration in the homozygous kcnj13 -/- zebrafish model

Dhakshi Muhundhakumar; Maria Toms; Dhani Tracey-White; Rose Richardson; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2263. doi:

ARVO Annual Meeting Abstract September 2016

KCNJ13 -related energy crisis: Mitochondrial dynamics in the retinal degeneration zebrafish model.

Dhani Tracey-White; Maria Toms; Dhakshi Muhundhakumar; Matthew Smart; Thomas Burgoyne; Glen Jeffery; Clare Futter; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2743. doi:

Genetics March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

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Sarah Hull; Nicholas Owen; Farrah Islam; Dhani Tracey-White; Vincent Plagnol; Graham E. Holder; Michel Michaelides; Keren Carss; F. Lucy Raymond; Jean-Michel Rozet; Simon C. Ramsden; Graeme C. M. Black; Isabelle Perrault; Ajoy Sarkar; Mariya Moosajee; Andrew R. Webster; Gavin Arno; Anthony T. Moore
TAGS: mutation, biological transport, family, genes, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1053-1062. doi: 10.1167/iovs.15-17976

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Spectrum of CHM mutations, structural retinal features and their progression in choroideremia patients within the UK

Mariya Moosajee; Simon C Ramsden; Graeme C Black; Anthony T Moore; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6431. doi:

ARVO Annual Meeting Abstract April 2014

Translational bypass therapy using ataluren to treat nonsense-mediated choroideremia

Dhani Tracey-White; Valerie De Luca; Clare Futter; Anthony T Moore; Andrew Webster; Miguel C Seabra; Christian P Hamel; Vasiliki Kalatzis; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3302. doi:

ARVO Annual Meeting Abstract March 2012

The Development of Non-Viral Vectors for Choroideremia

Richard P. Harbottle; Elham Ostad-Saffari; Mariya Moosajee; Suet Ping Wong; Dhani Tracey-White; Tanya Tolmachova; Miguel Seabra

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1922. doi:

ARVO Annual Meeting Abstract April 2011

Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime

Mariya Moosajee; Dhani Tracey-White; Richard P. Harbottle; Veronica Ferguson

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1983. doi:

Retinal Cell Biology June 2009

Single choroideremia Gene in Nonmammalian Vertebrates Explains Early Embryonic Lethality of the Zebrafish Model of Choroideremia

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Mariya Moosajee; Merrin Tulloch; Rudi A. Baron; Cheryl Y. Gregory-Evans; José B. Pereira-Leal; Miguel C. Seabra
TAGS: phenotype, choroideremia, embryo, genes, vertebrates, zebrafish, proteins
Invest. Ophthalmol. Vis. Sci.. 2009; 50(6):3009-3016. doi: 10.1167/iovs.08-2755

Biochemistry and Molecular Biology November 2003

Transcriptional Regulation and Expression of the Dominant Drusen Gene FBLN3 ( EFEMP1 ) in Mammalian Retina

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James Blackburn; Emma E. Tarttelin; Cheryl Y. Gregory-Evans; Mariya Moosajee; Kevin Gregory-Evans
TAGS: estrogen, drusen, exons, genes, genome, luciferases, mammals, reverse transcriptase polymerase chain reaction, body tissue, mice, proteins, retina, transcriptional control, fibulin
Invest. Ophthalmol. Vis. Sci.. 2003; 44(11):4613-4621. doi: 10.1167/iovs.03-0112

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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

Combined nonsense mediated decay inhibition and suppression as a treatment approach for choroideremia

Comparison of zebrafish retinal proteins during experimental degeneration and regeneration using quantitative proteomics

COMPREHENSIVE ANALYSIS OF PTC-124 THERAPY FOR CHOROIDEREMIA

Comparative analysis of small molecule drugs for nonsense suppression therapy in Choroideremia

Comparative proteomic analysis between the degenerated human and zebrafish retina

Longitudinal phenotypic analysis of the early onset retinal degeneration in the homozygous kcnj13 -/- zebrafish model

KCNJ13 -related energy crisis: Mitochondrial dynamics in the retinal degeneration zebrafish model.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

Spectrum of CHM mutations, structural retinal features and their progression in choroideremia patients within the UK

Translational bypass therapy using ataluren to treat nonsense-mediated choroideremia

The Development of Non-Viral Vectors for Choroideremia

Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime

Single choroideremia Gene in Nonmammalian Vertebrates Explains Early Embryonic Lethality of the Zebrafish Model of Choroideremia

Transcriptional Regulation and Expression of the Dominant Drusen Gene FBLN3 ( EFEMP1 ) in Mammalian Retina

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