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Articles, 3 records found
Articles 3 records found  
1.
10 p, 1.3 MB Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations / Hochberg, Irit (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ; Demain, Leigh A. M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Richer, Julie (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ; Thompson, Kyle (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ; Urquhart, Jill E. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Rea, Alessandro (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Pagarkar, Waheeda (Royal National ENT and Eastman Dental Hospital, University College London Hospitals) ; Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ; Verdura, Edgard (Institut d'Investigació Biomèdica de Bellvitge) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ; Amberger, Albert (Institute of Human Genetics, Medical University Innsbruck) ; Deutschmann, Andrea J. (Institute of Human Genetics, Medical University Innsbruck) ; Demetz, Sandra (Institute of Human Genetics, Medical University Innsbruck) ; Gillespie, Meredith (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ; Belyantseva, Inna A. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ; McMillan, Hugh J. (Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa) ; Barzik, Melanie (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ; Beaman, Glenda M. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Motha, Reeya (The Royal London Hospital) ; Ng, Kah Ying (Institute of Biotechnology, University of Helsinki) ; O'Sullivan, James (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Williams, Simon G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Bhaskar, Sanjeev S. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust) ; Lawrence, Isabella R. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ; Jenkinson, Emma M. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ; Zambonin, Jessica L. (Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa) ; Blumenfeld, Zeev (Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa) ; Yalonetsky, Sergey (Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa) ; Oerum, Stephanie (Newcastle MX Structural Biology Laboratory, Newcastle University) ; Rossmanith, Walter (Center for Anatomy and Cell Biology, Medical University of Vienna) ; Yue, Wyatt W. (Newcastle MX Structural Biology Laboratory, Newcastle University) ; Zschocke, Johannes (Institute of Human Genetics, Medical University Innsbruck) ; Munro, Kevin J. (Manchester University NHS Foundation Trust) ; Battersby, Brendan J. (Institute of Biotechnology, University of Helsinki) ; Friedman, Thomas B. (Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD) ; Taylor, Robert W. (Wellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University) ; O'Keefe, Raymond T. (Division of Evolution, Infection, and Genomics, School of Biological Sciences, University of Manchester) ; Newman, William G. (Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust)
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. [...]
2021 - 10.1016/j.ajhg.2021.10.002
American Journal of Human Genetics, Vol. 108 (november 2021) , p. 2195-2204  
2.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  
3.
23 p, 4.0 MB MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria / Dalla Rosa, Ilaria (MRC Mill Hill Laboratory, London, United Kingdom) ; Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Durigon, Romina (MRC Mill Hill Laboratory) ; Moss, Chloe F. (MRC Mill Hill Laboratory) ; Vidoni, Sara (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Akman, Gokhan (MRC Mill Hill Laboratory) ; Hunt, Lilian (MRC Mill Hill Laboratory) ; Johnson, Mark A. (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Grocott, Sarah (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom) ; Wang, Liya (Department of Anatomy, Physiology and Biochemistry, The Swedish University of Agricultural Sciences, Biomedical Center) ; Thorburn, David R. (Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital) ; Hirano, Michio (Department of Neurology, Columbia University Medical Center, New York, New York, United States of America) ; Poulton, Joanna (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital) ; Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, The Medical School, Newcastle upon Tyne) ; Elgar, Greg (MRC Mill Hill Laboratory) ; Martí, Ramon A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Voshol, Peter (Institute of Metabolic Science, University of Cambridge) ; Holt, Ian J. (MRC Mill Hill Laboratory, London) ; Spinazzola, Antonella (MRC Mill Hill Laboratory) ; Universitat Autònoma de Barcelona
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic instability; therefore, we determined DNA copy number and dNTP levels in mitochondria of two models of MPV17 deficiency. [...]
2016 - 10.1371/journal.pgen.1005779
PLoS Genetics, Vol. 12 (january 2016)  

See also: similar author names
1 Taylor, R.
3 Taylor, R. P.
1 Taylor, Rachel A.
2 Taylor, Ruth
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