Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Autor: Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France.; Inserm UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France., Beetz C; Centogene GmbH, Rostock, Germany., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Conway GS; Institute for Women's Health, University College London, London, United Kingdom., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Azzouz H; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Ben Chehida A; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, APHP, Paris, France., Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., O' Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Carrera S; Genome Editing Unit, The University of Manchester, Manchester, M13 9PT, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.; Genomics England, London, UK., Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, The University of Manchester, Manchester, UK., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21.

Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial.

Autor: Morgan RD; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom.; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Clamp AR; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom.; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., White DJ; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., Price M; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Burghel GJ; North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Ryder WDJ; Manchester Clinical Trials Unit, University of Manchester, Manchester, United Kingdom., Mahmood RD; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Murphy AD; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Hasan J; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Mitchell CL; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Salih Z; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Wheeler C; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Buckley E; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Truelove J; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom., King G; Manchester Clinical Trials Unit, University of Manchester, Manchester, United Kingdom., Ainaoui Y; Manchester Clinical Trials Unit, University of Manchester, Manchester, United Kingdom., Bhaskar SS; North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Shaw J; Department of Histopathology, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Evans DGR; North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Kilerci B; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., Pearce SP; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., Brady G; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., Dive C; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., O'Connor JPB; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Department of Radiology, The Christie NHS Foundation Trust, Manchester, United Kingdom., Wallace AJ; North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Rothwell DG; Cancer Biomarker Centre, Cancer Research UK Manchester Institute, Manchester, United Kingdom., Edmondson RJ; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Department of Gynaecological Surgery, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Jayson GC; Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, United Kingdom.; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

Publikováno v: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2023 Jul 14; Vol. 29 (14), pp. 2602-2611.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

Autor: Hochberg I; Institute of Endocrinology, Diabetes, and Metabolism, Rambam Health Care Campus, Haifa 3109601, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Demain LAM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Thompson K; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Urquhart JE; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Rea A; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Pagarkar W; Royal National ENT and Eastman Dental Hospital, University College London Hospitals, London WC1E 6DG, UK., Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Barcelona, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, and Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution for Research and Advanced Studies, 08010 Barcelona, Spain., Quijada-Fraile P; Unit of Mitochondrial and Inherited Metabolic Diseases, Pediatric Department, University Hospital 12 de Octubre, National Reference Center, European Reference Network for Hereditary Metabolic Disorders, 28041 Madrid, Spain., Amberger A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Deutschmann AJ; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Demetz S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Gillespie M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., McMillan HJ; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Beaman GM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Motha R; The Royal London Hospital, Whitechapel Road, Whitechapel, London E1 1FR, UK., Ng KY; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., O'Sullivan J; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Williams SG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Lawrence IR; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Jenkinson EM; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Zambonin JL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Blumenfeld Z; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3109601, Israel., Yalonetsky S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa 3109601, Israel., Oerum S; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Rossmanith W; Center for Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria., Yue WW; Newcastle MX Structural Biology Laboratory, Newcastle University, Medical School, NUBI Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Munro KJ; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Battersby BJ; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., O'Keefe RT; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK. Electronic address: rokeefe@manchester.ac.uk., Newman WG; Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2195-2204. Date of Electronic Publication: 2021 Oct 28.

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

Autor: Furuta, Yutaka^1,2 (AUTHOR) yutaka.furuta@vumc.org, Tinker, Rory J.¹ (AUTHOR), Hamid, Rizwan¹ (AUTHOR), Cogan, Joy D.^1,2 (AUTHOR), Ezell, Kimberly M.¹ (AUTHOR), Oglesbee, Devin³ (AUTHOR), DeBerardinis, Ralph J.^2,4 (AUTHOR), Phillips III, John A.¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 11/14/2024, Vol. 19 Issue 1, p1-11. 11p.

The RNA-binding proteins regulate innate antiviral immune signaling by modulating pattern recognition receptors.

Autor: Li, Jianguo^1,2,3 (AUTHOR), Yu, Jingge^1,4 (AUTHOR), Shen, Ao^1,3 (AUTHOR), Lai, Suwen¹ (AUTHOR), Liu, Zhiping^1,2 (AUTHOR) Zhiping.Liu@gmu.edu.cn, He, Tian-Sheng^1,2 (AUTHOR) hetiansheng361@163.com

Publikováno v: Virology Journal. 9/20/2024, Vol. 21 Issue 1, p1-13. 13p.