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The alternative androgen receptor isoform A mitigates toxicity of polyglutamine-elongated mutant androgen receptor in spinal and bulbar muscular atrophy

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Published 2026

Brain

Università degli Studi di Milano, University of Padova, Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, University of Pittsburgh Medical Center

Chierichetti M, Andreotti R, Tedesco B, Ferrari V, Cornaggia L, Pramaggiore P, Cozzi M, Mohamed A, Magdalena R, Piccolella M, Boarolo G, Crippa V, Rusmini P, Galbiati M, Rinaldi C, Anderson EN, Pandey UB, Pennuto M, Cristofani R, Poletti A,

10.1016/j.jare.2026.01.051

Chierichetti M, Andreotti R, Tedesco B, Ferrari V, Corna, et al,J Adv Res. 2026 Oct;88:959-976. doi: 10.1016/j.jare.2026.01.051. Epub 2026 Jan 19. PMID: 41564929.

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Reference genomes and fossils revise bat family phylogeny and biogeography

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Published 2026

Genomics

Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, University of Montpellier-CNRS-IRD, The City College of New York

Morales AE, Liang Y, Thomas WR, Leushkin EV, Castellanos FX, Larkin DM, Brown T, Fromm B, Hand SJ, Huang Z, Hughes GM, Jones MF, Lim BK, Mai M, Myers EW, Pippel M, Puechmaille SJ, Simmons NB, Abueg LAL, Ahituv N, AlAbdulsalam ZA, et al

10.1038/s41586-026-11007-3

Morales AE, Liang Y, Thomas WR, Leushkin EV, et al. Nature. 2026 Oct;658(8134):141-152. doi: 10.1038/s41586-026-11007-3. Epub 2026 Sep 23. PMID: 42778608; PMCID: PMC13626947.

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Functional analysis of TTN uORFs reveals context-dependent translational regulation

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Published 2026

Genomics

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford Organoid Hub, Sherrington Building, University of Oxford, Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford

Kirk RB, Sparrow AJ, Moya-Jódar M, Roberts TC, Toepfer CN, Watkins H.,

10.1016/j.omtn.2026.103077

Kirk RB, Sparrow AJ, Moya-Jódar M, Roberts TC, Toepfer CN, Watkins H., Mol Ther Nucleic Acids. 2026 Aug 28;37(4):103077. doi: 10.1016/j.omtn.2026.103077. PMID: 42761362; P

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Perivascular Astrocytic Gliosis Induced by Retinal Gene Therapy

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Published 2026

Eye

AAV2-CAG-REP1, EGFR/STAT3, FOXO3

Oxford Eye Hospital, Nuffield Department of Clinical Neuroscience, University of Oxford, University of Tübingen

Abdalla Elsayed MEA, Seitz IP, Fischer MD, MacLaren RE.

10.1177/10430342261469741

Abdalla Elsayed MEA, Seitz IP, Fischer MD, MacLaren RE, Hum Gene Ther. 2026 Nov;37(21-22):1019-1026. doi: 10.1177/10430342261469741. Epub 2026 Aug 18. PMID: 42610332.

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Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

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Published 2026

Genomics

AUTS2, DLX5/6, FN1

University of Edinburgh, Centre for Human Genetics, University of Oxford, Royal Devon University Healthcare NHS Foundation Trust, North of Scotland Medical Genetic Service, NHS Grampian, Queen Elizabeth University Hospital

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert et al

10.1038/s41431-026-02210-x

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert et al, Eur J Hum Genet. 2026 Oct;34(10):1513-1523. doi: 10.1038/s41431-026-02210-x. Epub 2026 Aug 5. PMID: 42557338; PMCID: PMC13634035.

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