Nature Search

Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial

In the phase 3 STAR trial, subretinal administration of the AAV2-based gene therapy timrepigene emparvovec in patients with choroideremia did not lead to a significant difference in the primary endpoint of 15-letter Early Treatment Diabetic Retinopathy Study (ETDRS) improvement in visual acuity from baseline compared to untreated controls.

Robert E. MacLaren
M. Dominik Fischer
Mark E. Pennesi
ResearchOpen Access09 Oct 2023
Nature Medicine

Volume: 29, P: 2464-2472
Geometrie der Kräfte

ROBERT S. BALL
Books & Arts08 Jul 1909
Nature

Volume: 81, P: 34
Re-establishment of visual circuitry after optic nerve regeneration

Robert E MacLaren
Reviews01 May 1999
Eye

Volume: 13, P: 277-284
Transplanted photoreceptor precursors transfer proteins to host photoreceptors by a mechanism of cytoplasmic fusion

Previous studies have used fluorescently labelled cells to demonstrate the incorporation of transplanted photoreceptor precursors into the mouse retina. Here, the authors show that fluorescent proteins are passed between the host and transplanted cells rather than migration of donor cells into the retina.

Mandeep S. Singh
Jasmin Balmer
Robert E. MacLaren
ResearchOpen Access30 Nov 2016
Nature Communications

Volume: 7, P: 1-5
Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration

CRISPR-Cas13 mediated editing of RNA corrects a common mutation in the retinal degeneration gene USH2A, and restores usherin expression in mouse photoreceptors when delivered with adeno-associated viral gene therapy.

Lewis E. Fry
Lauren Major
Robert E. MacLaren
ResearchOpen Access08 Feb 2025
Communications Biology

Volume: 8, P: 1-16
FRA7G extends over a broad region: coincidence of human endogenous retroviral sequences (HERV-H) and small polydispersed circular DNAs (spcDNA) and fragile sites

Haojie Huang
Junqi Qian
David I Smith
Research26 May 1998
Oncogene

Volume: 16, P: 2311-2319
Evidence from mantle xenoliths for an enriched lithospheric keel under the Outer Hebrides

Martin A. Menzies
Alexander N. Halliday
Christopher J. Hawkesworth
Research01 Jan 1987
Nature

Volume: 325, P: 44-47
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Mirtron-mediated RNA knockdown/replacement therapy for the treatment of dominant retinitis pigmentosa

Rhodopsin-related dominant retinitis pigmentosa is a degenerative disease of the retina of the eye for which there is no current treatment. In this study, the authors use a novel form of RNA-interference- artificial mirtrons- to slow retinal degeneration in a mouse model of the disease.

Harry O. Orlans
Michelle E. McClements
Robert E. MacLaren
ResearchOpen Access16 Aug 2021
Nature Communications

Volume: 12, P: 1-13
Effective gene therapy with nonintegrating lentiviral vectors

Rafael J Yáñez-Muñoz
Kamaljit S Balaggan
Adrian J Thrasher
Research19 Feb 2006
Nature Medicine

Volume: 12, P: 348-353
AMINOACIDURIA AS AN INDICATOR OF PHENYLAIANINE AND/OR CALORIC DEFICIENCY IN TREATED PKU PATIENTS

Derrick Lonsdale
Robert Schwartz
Research01 Apr 1974
Pediatric Research

Volume: 8, P: 435
Insulin Responses to Intravenous Glucose and the Hyperglycemic Clamp in Cystic Fibrosis Patients with Different Degrees of Glucose Tolerance

Benjamin Rakotoambinina
Bertrand Delaisi
Jean-Jacques Robert
Research01 Nov 1994
Pediatric Research

Volume: 36, P: 667-671
Outer retinal and choriocapillaris modifications in choroideremia: three differentially impaired retinal regions and the potential diagnostic role of the external limiting membrane

Alessandro Arrigo
Maurizio Battaglia Parodi
Robert E. MacLaren
Research28 Jan 2022
Eye

Volume: 37, P: 338-343
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing.

Paul K. Potter
Michael R. Bowl
Steve D. M. Brown
ResearchOpen Access18 Aug 2016
Nature Communications

Volume: 7, P: 1-13
Stabilisation of Fe₂O₃-rich Perovskite Nanophase in Epitaxial Rare-earth Doped BiFeO₃ Films

Huairuo Zhang
Ian M. Reaney
W. Mark Rainforth
ResearchOpen Access14 Aug 2015
Scientific Reports

Volume: 5, P: 1-9
INSULIN-LIKE GROWTH FACTOR-I (IGF-I) POTENTIATES LH-INDUCED STIMULATION OF ANDROGEN SYNTHESIS BY RAT OVARIAN THECA-INTERSTITIAL (TI) CELLS

Jose F Cara
Robert L Rosenfield
Research01 Apr 1987
Pediatric Research

Volume: 21, P: 245
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Mandeep S. Singh
Suzanne Broadgate
Robert E. MacLaren
ResearchOpen Access09 May 2016
Scientific Reports

Volume: 6, P: 1-5
Potential lifetime quality of life benefits of choroideremia gene therapy: projections from a clinically informed decision model

Celine-Lea Halioua-Haubold
Jasleen K. Jolly
Robert E. MacLaren
Research17 Jul 2019
Eye

Volume: 33, P: 1215-1223
127 Abnormal Adrenal Steroids in Premature Virilization of Children

Peter A Lee
Maria D Urban
Robert Mcvie
Research01 Jun 1985
Pediatric Research

Volume: 19, P: 624
CRISPR targeting of SNPs associated with age-related macular degeneration in ARPE-19 cells: a potential model for manipulating the complement system

Ahmed Salman
Won Kyung Song
Robert E. MacLaren
ResearchOpen Access18 Mar 2025
Gene Therapy

Volume: 32, P: 132-141
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

The long-term follow-up results of a phase 1/2 retinal gene therapy clinical trial for choroideremia (NCT01461213) support the safety and efficacy of the treatment.

Kanmin Xue
Jasleen K Jolly
Robert E. MacLaren
Research08 Oct 2018
Nature Medicine

Volume: 24, P: 1507-1512
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

Early results from a first-in-human retinal gene therapy trial for X-linked retinitis pigmentosa indicate that, at an intermediate dose, AAV8-RPGR is safe and in a subset of patients can lead to gains in visual function.

Jasmina Cehajic-Kapetanovic
Kanmin Xue
Robert E. MacLaren
Research24 Feb 2020
Nature Medicine

Volume: 26, P: 354-359
Function of human pluripotent stem cell-derived photoreceptor progenitors in blind mice

Alona O. Barnea-Cramer
Wei Wang
Robert Lanza
ResearchOpen Access13 Jul 2016
Scientific Reports

Volume: 6, P: 1-15
Bioengineering strategies for restoring vision

This Review discusses the most promising gene therapies, cell therapies and retinal prostheses for the treatment of retinal degeneration, as well as upcoming technologies for enhancing vision restoration.

Jasmina Cehajic-Kapetanovic
Mandeep S. Singh
Robert E. MacLaren
Reviews31 Jan 2022
Nature Biomedical Engineering

Volume: 7, P: 387-404
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Reversal of ocean acidification enhances net coral reef calcification

A manipulative experiment in which a reef is alkalinized in situ shows that calcification rates are likely to be lower already than they were in pre-industrial times because of acidification.

Rebecca Albright
Lilian Caldeira
Ken Caldeira
Research24 Feb 2016
Nature

Volume: 531, P: 362-365
Single-cell transcriptomic analysis of retinal immune regulation and blood-retinal barrier function during experimental autoimmune uveitis

Joel Quinn
Ahmed Salman
Kanmin Xue
ResearchOpen Access28 Aug 2024
Scientific Reports

Volume: 14, P: 1-14
Real-world six-month outcomes in patients switched to faricimab following partial response to anti-VEGF therapy for neovascular age-related macular degeneration and diabetic macular oedema

Grace A. Borchert
Christine A. Kiire
Samantha R. De Silva
ResearchOpen Access11 Oct 2024
Eye

Volume: 38, P: 3569-3577
Functional expression of complement factor I following AAV-mediated gene delivery in the retina of mice and human cells

Anna K. Dreismann
Michelle E. McClements
Robert E. MacLaren
ResearchOpen Access10 Mar 2021
Gene Therapy

Volume: 28, P: 265-276
“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”

Olivia Cundy
Suzanne Broadgate
Susan M. Downes
Research29 Jul 2020
Eye

Volume: 35, P: 1440-1449
Benign idiopathic haemorrhagic retinotherapy

R E MacLaren
Correspondence05 Apr 2002
Eye

Volume: 16, P: 107-108
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Comment on: ‘Sector retinitis pigmentosa caused by mutations of the RHO gene’

Harry O. Orlans
Robert E. MacLaren
Correspondence28 Oct 2019
Eye

Volume: 34, P: 1477-1478
CDHR1-related late-onset macular dystrophy: further insights

Imran H. Yusuf
Robert E. MacLaren
Peter Charbel Issa
Correspondence01 Oct 2020
Eye

Volume: 35, P: 2901-2902
A 2020 vision of ocular gene therapy

Robert E. MacLaren
Comments & Opinion29 Jun 2020
Gene Therapy

Volume: 28, P: 217-219
Robotising vitreoretinal surgeries

Helen Mi
Robert E. MacLaren
Jasmina Cehajic-Kapetanovic
ReviewsOpen Access04 Jul 2024
Eye

Volume: 39, P: 673-682
The power, potential, benefits, and challenges of implementing high-throughput sequencing in food safety systems

Behzad Imanian
John Donaghy
Jason Wan
ReviewsOpen Access16 Aug 2022
npj Science of Food

Volume: 6, P: 1-6
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

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