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8 p, 667.2 KB |
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia
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Philtjens, Stéphanie (University of Antwerp) ;
Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ;
Van der Zee, Julie (University of Antwerp) ;
Wauters, Eline (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Ivanoiu, Adrian (Université Catholique de Louvain) ;
Sieben, Anne (Universitair Ziekenhuis Gent) ;
Willems, Christiana (Jessa Hospital) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Diez-Fairen, Monica (Instituto de Salud Carlos III) ;
Aguilar, Miquel (Instituto de Salud Carlos III) ;
de Mendonça, Alexandre (University of Lisbon) ;
Miltenberger-Miltényi, Gabriel (University of Lisbon) ;
Hernández, Isabel (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Boada, M. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Ruiz, A. (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Nacmias, B. (University of Florence) ;
Sorbi, S. (IRCCS Don Gnocchi) ;
Almeida, M.Rosario (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Frisoni, Giovanni B. (IRCCS Fatebenefratelli) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Van den Broeck, Marleen (University of Antwerp) ;
Peeters, Karin (University of Antwerp) ;
Cras, Patrick (Antwerp University Hospital (UZA)) ;
De Deyn, Peter P. (Middelheim and Hoge Beuken) ;
Engelborghs, Sebastiaan (Middelheim and Hoge Beuken) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Universitat Autònoma de Barcelona
We investigated the genetic role of sortilin (SORT1) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene (GRN), a major causal gene for inherited FTD. [...]
2018 -  10.1016/j.neurobiolaging.2018.02.011
Neurobiology of Aging, Vol. 66 (june 2018) , p. 181.e3-181.e10
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25 p, 2.4 MB |
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela (University Paris Cité) ;
Talouarn, Estelle (University Paris Cité) ;
Marchal, Astrid (University Paris Cité) ;
Zhang, Peng (Rockefeller University) ;
Manry, Jeremy (University Paris Cité) ;
Seeleuthner, Yoann (University Paris Cité) ;
Zhang, Yu (Laboratory of Clinical Immunology and Microbiology) ;
Bolze, Alexandre (Helix) ;
Chaldebas, Matthieu (The Rockefeller University) ;
Milisavljevic, Baptiste (The Rockefeller University) ;
Gervais, Adrian (University Paris Cité) ;
Bastard, Paul (Necker Hospital for Sick Children) ;
Asano, Takaki (The Rockefeller University) ;
Bizien, Lucy (University Paris Cité) ;
Barzaghi, Federica (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Abolhassani, Hassan (Children's Medical Center) ;
Abou Tayoun, Ahmad (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Aiuti, Alessandro (Vita-Salute San Raffaele University) ;
Alavi Darazam, Ilad (Loghman Hakim Hospital) ;
Allende, Luis M. (Hospital 12 de Octubre (Madrid)) ;
Alonso-Arias, Rebeca (Hospital Universitario Central de Asturias) ;
Arias, Andrés Augusto (University of Antioquia UdeA) ;
Aytekin, Gokhan (Konya City Hospital) ;
Bergman, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Bondesan, Simone (IRCSS San Raffaele Scientific Institute) ;
Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ;
Bustos, Ingrid G. (Universidad de La Sabana) ;
Cabrera-Marante, Oscar (Hospital Universitario La Paz (Madrid)) ;
Carcel, Sheila (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Carrera, Paola (IRCSS San Raffaele Scientific Institute) ;
Casari, Giorgio (Vita-Salute San Raffaele University) ;
Chaïbi, Khalil (Sorbonne University) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Condino-Neto, Antonio (University of São Paulo) ;
Covill, Laura E. (Karolinska Institutet (Estocolm, Suècia)) ;
Delmonte, Ottavia M. (Laboratory of Clinical Immunology and Microbiology) ;
El Zein, Loubna (Lebanese University) ;
Flores, Carlos (Universidad Fernando Pessoa Canarias) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research) ;
Gut, Marta (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Haerynck, Filomeen (Jeffrey Modell Diagnosis and Research Centre) ;
Halwani, Rabih (University of Sharjah) ;
Hancerli, Selda (Istanbul University) ;
Hammarström, Lennart (Karolinska Institutet (Estocolm, Suècia)) ;
Hatipoğlu, Nevin (University of Health Sciences, Turkey) ;
Karbuz, Adem (Dr. Cemil Tascioglu City Hospital, Turkey) ;
Keles, Sevgi (Necmettin Erbakan University) ;
Kyheng, Christèle (Hôpital Bicêtre) ;
Leon-Lopez, Rafael (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Franco, Jose Luis (University of Antioquia UDEA) ;
Mansouri, Davood (Shahid Beheshti University of Medical Sciences) ;
Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Metin Akcan, Ozge (Necmettin Erbakan University) ;
Migeotte, Isabelle (Centre de Génétique Humaine de L'Université Libre de Bruxelles) ;
Morange, Pierre-Emmanuel (Aix-Marseille University) ;
Morelle, Guillaume (Hôpital Bicêtre) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Novelli, Giuseppe (IRCCS Neuromed) ;
Novelli, Antonio (Bambino Gesù Children Hospital) ;
Ozcelik, Tayfun (Bilkent University) ;
Palabiyik, Figen (University of Health Sciences, Turkey) ;
Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ;
de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ;
Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Pleguezuelo, Daniel E. (Hospital 12 de Octubre (Madrid)) ;
Prando, Carolina (Instituto de Pesquisa Pelé Pequeno Príncipe) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Reyes, Luis Felipe (Universidad de La Sabana) ;
Rivière, Jacques G. (Hospital Universitari Vall d'Hebron) ;
Rodriguez-Gallego, Carlos (Universidad Fernando Pessoa Canarias) ;
Rojas, Julian (University of Antioquia UDEA) ;
Rovere-Querini, Patrizia (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Shahrooei, Mohammad (KU Leuven.) ;
Sobh, Ali (Mansoura University Children's Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ;
Tipu, Imran (University of Management and Technology) ;
Tresoldi, Cristina (IRCCS Ospedale San Raffaele) ;
Troya, Jesus (Hospital Universitario Infanta Leonor) ;
van de Beek, Diederik (Amsterdam Neuroscience) ;
Zatz, Mayana (University of São Paulo) ;
Zawadzki, Pawel (Adam Mickiewicz University) ;
Al-Muhsen, Saleh Zaid (King Saud University) ;
Alosaimi, Mohammed Faraj (King Saud University) ;
Alsohime, Fahad M. (King Saud University) ;
Baris-Feldman, Hagit (Tel Aviv University) ;
Butte, Manish J. (University of California Los Angeles) ;
Constantinescu, Stefan N. (Oxford University) ;
Cooper, Megan A. (Washington University in St. Louis) ;
Dalgard, Clifton L. (Uniformed Services University of the Health Sciences) ;
Fellay, Jacques (Lausanne University Hospital) ;
Heath, James R. (Institute for Systems Biology) ;
Lau, Yu-Lung (Queen Mary Hospital) ;
Lifton, Richard P. (Yale School of Medicine) ;
Maniatis, Tom (New York Genome Center) ;
Mogensen, Trine H. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ;
Lermine, Alban (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Vidaud, Michel (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Boland, Anne (Université Paris-Saclay) ;
Deleuze, Jean-François (Université Paris-Saclay) ;
Nussbaum, Robert (Invitae) ;
Kahn-Kirby, Amanda (Invitae) ;
Mentre, France (Hôpital Bichat) ;
Tubiana, Sarah (Hôpital Bichat) ;
Gorochov, Guy (CIMI-Paris) ;
Tubach, Florence (Institut Pierre Louis d'Epidémiologie et de Santé Publique) ;
Hausfater, Pierre (Sorbonne Université) ;
Meyts, Isabelle (KU Leuven) ;
Zhang, Shen-Ying (The Rockefeller University) ;
Puel, Anne (The Rockefeller University) ;
Notarangelo, Luigi (Laboratory of Host Defenses) ;
Boisson-Dupuis, Stephanie (The Rockefeller University) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Boisson, Bertrand (The Rockefeller University) ;
Jouanguy, Emmanuelle (The Rockefeller University) ;
Casanova, Jean-Laurent (Howard Hughes Medical Institute) ;
Zhang, Qian (The Rockefeller University) ;
Abel, Laurent (The Rockefeller University) ;
Cobat, Aurélie (The Rockefeller University) ;
Universitat Autònoma de Barcelona
We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. [...]
2023 - 10.1186/s13073-023-01173-8
Genome Medicine, Vol. 15 (april 2023)
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12 p, 620.2 KB |
Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention
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Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ;
Cabana-Domínguez, Judit (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Kappel, Djenifer B. (Cardiff University) ;
Torrico, Bàrbara (Institut de Recerca Sant Joan de Déu) ;
Weber, Heike (University Hospital Würzburg) ;
Lesch, Klaus-Peter (I.M Sechenov First Moscow State Medical University) ;
Lao, Oscar (Universitat Pompeu Fabra) ;
Reif, Andreas (University Hospital of Frankfurt (Alemanya)) ;
Cormand, Bru (Institut de Recerca Sant Joan de Déu) ;
Universitat Autònoma de Barcelona
Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. [...]
2021 - 10.3390/genes13010093
Genes, Vol. 13 (december 2021)
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12 p, 849.5 KB |
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
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Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ;
Mateiu, Ligia (University of Antwerp. VIB) ;
Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224
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10 p, 498.4 KB |
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
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Cacace, Rita (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Geerts, Nathalie (University of Antwerp) ;
Laureys, Annelies (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Ortega-Cubero, Sara (Instituto de Salud Carlos III) ;
Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Almeida, Maria Rosário (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Koutroumani, Maria (Aristotle University of Thessaloniki) ;
Clarimón, Jordi (Universitat Autònoma de Barcelona) ;
Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ;
Fortea, Juan (Universitat Autònoma de Barcelona) ;
de Mendonça, Alexandre (University of Lisbon) ;
Martins, Madalena (University of Lisbon) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ;
Vandenbulcke, Mathieu (University of Leuven) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
van der Zee, Julie (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human mutation, Vol. 36 (october 2015) , p. 1226-1235
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