Andrew J. McDonald

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells

Rossella Valenzano, Xuefei Lu, Andrew J. McDonald, Ioannis Moustakas et autres

Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of …

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Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells

Rossella Valenzano, Xuefei Lu, Andrew J. McDonald, Ioannis Moustakas et autres

Pathological USH2A mutations cause Usher Syndrome type II, characterized by progres-sive retinitis pigmentosa and hearing and balance impairment. This study aims to inves-tigate the cellular mechanisms underlying USH2A-related retinal degeneration using hu-man induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of …

Conventional and Tropism-Modified High-Capacity Adenoviral Vectors Exhibit Similar Transduction Profiles in Human iPSC-Derived Retinal Organoids

Andrew J. McDonald, Carmen Gallego, Charlotte A. Andriessen, M A Orlova et autres

Viral vector delivery of gene therapy represents a promising approach for the treatment of numerous retinal diseases. Adeno-associated viral vectors (AAV) constitute the primary gene delivery platform; however, their limited cargo capacity restricts the delivery of several clinically relevant retinal genes. In …

nl (code pays fourni par la source)

Conventional and Tropism-Modified High-Capacity Adenoviral Vectors Exhibit Similar Transduction Profiles in Human iPSC-Derived Retinal Organoids

Andrew J. McDonald, Carmen Gallego, Charlotte A. Andriessen, M A Orlova et autres

Viral vector delivery of gene therapy represents a promising approach for the treatment of numerous retinal diseases. Adeno-associated viral vectors (AAV) constitute the primary gene delivery platform; however, their limited cargo capacity restricts the delivery of several clinically relevant retinal genes. In …

Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models

Andrew J. McDonald, Jan Wijnholds

The human photoreceptor function is dependent on a highly specialised cilium. Perturbation of cilial function can often lead to death of the photoreceptor and loss of vision. Retinal ciliopathies are a genetically diverse range of inherited retinal disorders affecting aspects of the …

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Interpretation and reporting of mixed DNA profiles by seven forensic laboratories in the UK and Ireland

Ben Mallinder, S.J.A. Pope, J. A. Thomson, L A Beck et autres

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A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder

Eileen G. Daniels, Marielle M. Alders, Marco Lezzerini, Andrew J. McDonald et autres

Uniparental isodisomy (UPiD) is a rare genetic event that occurs when two identical copies of a single chromosome are inherited from one parent. Here we report a patient with a severe, multisystem metabolic disorder who inherited two copies of Chromosome 12 from …

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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Floor A.M. Duijkers, Andrew J. McDonald, Georges E. Janssens, Marco Lezzerini et autres

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Targeting mitochondrial hexokinases increases efficacy of histone deacetylase inhibitors in solid tumor models

Andrew J. McDonald, Katherine M. Curt, Ruchi P. Patel, Hanna Kozlowski et autres

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A casework study comparing success rates and expectations of detecting male DNA using two different Y-STR multiplexes on vaginal swabs in sexual assault investigations where no semen has been detected

Rachel Owers, Andrew J. McDonald, H Montgomerie, Carol A. Morse

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Time since intercourse (TSI) data from a large-scale casework study of penile–vaginal penetration allegations using Sperm Elution™

Rachel Owers, Geraldine Davidson, Andrew J. McDonald, Robert J. Morgan et autres

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UK and Irish Y-STR population data—A catalogue of variant alleles

Anastasia Aliferi, J. A. Thomson, Andrew J. McDonald, Vanessa Molin Paynter et autres

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