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Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
Gu, Xiangchen; Yang, Hongliu; Sheng, Xin; Ko, Yi-An; Qiu, Chengxiang; Park, Jihwan; Huang, Shizheng; Kember, Rachel; Judy, Renae L; Park, Joseph; Damrauer, Scott M; Nadkarni, Girish; Loos, Ruth J F; My, Vy Thi Ha; Chaudhary, Kumardeep; Bottinger, Erwin P; Paranjpe, Ishan; Saha, Aparna; Brown, Christopher; Akilesh, Shreeram; Hung, Adriana M; Palmer, Matthew; Baras, Aris; Overton, John D; Reid, Jeffrey; Ritchie, Marylyn; Rader, Daniel J; Susztak, Katalin.
Afiliação
  • Gu X; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Yang H; Division of Nephrology, Yueyang Hospital of Integrative Traditional Chinese and Western Medicine, Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China.
  • Sheng X; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Ko YA; Division of Nephrology, West China Hospital of Sichuan University, Chengdu 610041, China.
  • Qiu C; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Park J; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Huang S; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kember R; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Judy RL; Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Park J; Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Damrauer SM; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Nadkarni G; Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Loos RJF; Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • My VTH; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Chaudhary K; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.
  • Bottinger EP; Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Paranjpe I; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Saha A; The Hasso Plattner Institute of Digital Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Brown C; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Akilesh S; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Hung AM; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Palmer M; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Baras A; The Hasso Plattner Institute of Digital Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Overton JD; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Reid J; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Ritchie M; Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Rader DJ; Department of Pathology, University of Washington, Seattle, WA 98195, USA.
  • Susztak K; Nashville VA Medical Center, Nashville, TN 37212, USA.
Sci Transl Med ; 13(576)2021 01 13.
Article em En | MEDLINE | ID: mdl-33441424

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Beta-Manosidase / Nefropatias Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Beta-Manosidase / Nefropatias Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article