Your browser doesn't support javascript.
loading
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Rodrigues Pinto Osorio, Glentino; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothée; Ondruskova, Nina; Simon, Marleen E H; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Christophe; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Linders, Peter T A; van den Bogaart, Geert; van Hijum, Sacha A F T; Rodenburg, Richard; van den Heuvel, Lambertus P; van Spronsen, Francjan; Honzik, Tomas; Foulquier, Francois; van Scherpenzeel, Monique; Lefeber, Dirk J; Mirjam, Wamelink; Han, Brunner; Helen, Mundy; Helen, Michelakakis; Peter, van Hasselt; Jiddeke, van de Kamp; Diego, Martinelli; Lars, Morkrid; Katja, Brocke Holmefjord; Jozef, Hertecant; Majid, Alfadhel; Kevin, Carpenter; Johann, Te Water Naude.
Afiliação
  • Ashikov A; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Abu Bakar N; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Wen XY; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Niemeijer M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Rodrigues Pinto Osorio G; Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael's Hospital, Toronto, ON, Canada.
  • Brand-Arzamendi K; Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada.
  • Hasadsri L; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Hansikova H; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Raymond K; Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael's Hospital, Toronto, ON, Canada.
  • Vicogne D; Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada.
  • Ondruskova N; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Simon MEH; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Pfundt R; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Timal S; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France.
  • Beumers R; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Biot C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Smeets R; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Kersten M; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Huijben K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Linders PTA; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France.
  • van den Bogaart G; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • van Hijum SAFT; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Rodenburg R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • van Spronsen F; Department of Tumor Immunology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Honzik T; Department of Tumor Immunology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Foulquier F; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • van Scherpenzeel M; NIZO, 6710 BA Ede, The Netherlands.
  • Lefeber DJ; Radboud Center for Mitochondrial Disorders, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Mirjam W; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB Groningen, The Netherlands.
  • Han B; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Helen M; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France.
  • Helen M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Peter VH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Jiddeke VK; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Lars M; Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
  • Katja BH; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Jozef H; Centre for Inherited Metabolic Disease, Evelina Children's Hospital, Guys and St Thomas NHS Foundation Trust, London SE1 7EH, UK.
  • Majid A; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • Kevin C; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Johann TWN; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Hum Mol Genet ; 27(17): 3029-3045, 2018 09 01.
Article em En | MEDLINE | ID: mdl-29878199
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Calcificação Fisiológica / Defeitos Congênitos da Glicosilação / Genômica / Transportadores de Ânions Orgânicos Dependentes de Sódio / Simportadores / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Glicômica / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Calcificação Fisiológica / Defeitos Congênitos da Glicosilação / Genômica / Transportadores de Ânions Orgânicos Dependentes de Sódio / Simportadores / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Glicômica / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido