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11 p, 1.2 MB |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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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) ;
GOSgene (UCL Great Ormond Street Institute of Child Health) ;
Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ;
Jobling, Rebekah (The Hospital for Sick Children, Toronto) ;
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 Center. Department of Genetics) ;
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)
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
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23 p, 4.0 MB |
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
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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)
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