Zobrazeno 1 - 7
of 7
pro vyhledávání: '"AOPEP"'
Aminopeptidase O Protein mediates the association between Lachnospiraceae and appendicular lean mass
Autor:
Bingjun Gao, Zhonghua Zhou, Junfei Chen, Shengling Zhang, Shaobin Jin, Weiwei Yang, Yinghan Lei, Kunyao Wang, Jinxu Li, Yan Zhuang
Publikováno v:
Frontiers in Microbiology, Vol 15 (2024)
ObjectiveInvestigating the causal relationship between Lachnospiraceae and Appendicular lean mass (ALM) and identifying and quantifying the role of Aminopeptidase O Protein (AOPEP) as a potential mediator.MethodsThe summary statistics data of gut mic
Externí odkaz:
https://doaj.org/article/f32aa7bcd5eb437d9c9df995794f2da9
Akademický článek
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Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Autor:
Aurélie Méneret, Manju A. Kurian, Michael C. Kruer, Alexander P. Drew, Niccolo E. Mencacci, Jean Madeleine de Sainte Agathe, Juliane Winkelmann, Lisa G. Riley, Sylvia Boesch, Saskia Biskup, Pedro Gonzalez-Alegre, Sheng Chih Jin, Janine Reunert, Sophie Reining, Kishore R. Kumar, Matthias Baumann, Riccardo Berutti, Fabienne Clot, Marie Vidailhet, Victor S.C. Fung, Thorsten Marquardt, Steven J. Lubbe, Robert Adam, Somayeh Bakhtiari, Tanya Bardakjian, Nicolas Derive, Ignacio Juan Keller Sarmiento, Michel Tchan, Michael Zech
Publikováno v:
Movement Disorders
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)
BACKGROUND Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene-disease relationships can be challenging. OBJECTIVE We sought to expand the catalogue of monogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8656fdccf99b551bfb684e673c1760a4
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf
Akademický článek
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Autor:
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Reining S; Department of General Paediatrics, University of Münster, Münster, Germany., Reunert J; Department of General Paediatrics, University of Münster, Münster, Germany., Tchan M; Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Riley LG; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, New South Wales, Australia., Drew AP; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Adam RJ; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany., Biskup S; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Keller Sarmiento IJ; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Mencacci NE; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Lubbe SJ; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Clot F; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France., Méneret A; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France., de Sainte Agathe JM; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié-Salpêtrière, Paris, France., Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Vidailhet M; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France., Baumann M; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Marquardt T; Department of General Paediatrics, University of Münster, Münster, Germany., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jan; Vol. 37 (1), pp. 137-147. Date of Electronic Publication: 2021 Oct 01.