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Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Baxley, Ryan M; Leung, Wendy; Schmit, Megan M; Matson, Jacob Peter; Yin, Lulu; Oram, Marissa K; Wang, Liangjun; Taylor, John; Hedberg, Jack; Rogers, Colette B; Harvey, Adam J; Basu, Debashree; Taylor, Jenny C; Pagnamenta, Alistair T; Dreau, Helene; Craft, Jude; Ormondroyd, Elizabeth; Watkins, Hugh; Hendrickson, Eric A; Mace, Emily M; Orange, Jordan S; Aihara, Hideki; Stewart, Grant S; Blair, Edward; Cook, Jeanette Gowen; Bielinsky, Anja-Katrin.
Afiliação
  • Baxley RM; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Leung W; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Schmit MM; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Matson JP; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Yin L; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Oram MK; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Wang L; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Taylor J; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Hedberg J; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Rogers CB; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Harvey AJ; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Basu D; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Taylor JC; Wellcome Centre Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
  • Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN, UK.
  • Dreau H; Wellcome Centre Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
  • Craft J; Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN, UK.
  • Ormondroyd E; Department of Haematology, University of Oxford, Oxford, OX3 7BN, UK.
  • Watkins H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Hendrickson EA; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Mace EM; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Orange JS; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Aihara H; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.
  • Stewart GS; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.
  • Blair E; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Cook JG; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
  • Bielinsky AK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Nat Commun ; 12(1): 1626, 2021 03 12.
Article em En | MEDLINE | ID: mdl-33712616
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Encurtamento do Telômero / Proteínas de Manutenção de Minicromossomo / Cardiomiopatias Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Encurtamento do Telômero / Proteínas de Manutenção de Minicromossomo / Cardiomiopatias Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos