Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Autor: Pere Soler-Palacín, Larysa Kostyuchenko, Peter Bader, Catharina Schuetz, Shereen M. Reda, Ruth Pia Duecker, Bodo Grimbacher, Sharhzad Bakhtiar, Nizar Mahlaoui, Ralf Schubert, Dagmar Graf, Juan Luis Santos Pérez, E.V. Deripapa, Necil Kutukculer, Claudio Pignata, Seraina Prader, Isabelle Meyts, Maria Kanariou, Markus G. Seidel, Sandra Woelke, Peter Ciznar, Aileen Buecker, Stephan Ehl, Koen J. van Aerde, E. Graham Davies, Carlos Rodríguez-Gallego, Sabine Huenecke, Fabian Hauck, Gerhard Kindle, Hermann Kreyenberg, John David M Edgar, Tim Niehues, Hans-Juergen Laws, Helena Donath, Kai Lehmberg, Barbara Pietrucha, Mary Slatter, Renate Krueger, Elizabeth M. McDermott, Nermeen Galal, Michiel van der Flier, Claire Bethune, Horst von Bernuth, Peter D. Arkwright, Laura Hora Marques, Ismail Reisli, Stefan Zielen, Ulrich Baumann, Luis Ignacio Gonzalez Granado, Sara Sebnem Kilic, Sabine M El-Helou, Alessandro Plebani, Svetlana O. Sharapova

Publikováno v: Journal of Clinical Immunology, 41, 1878-1892
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Journal of Clinical Immunology, 41, 8, pp. 1878-1892
Journal of Clinical Immunology

Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c067cc4e015b3d0afd59278267b96f
https://hdl.handle.net/2066/241476

Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

Autor: Havla, Joachim, Pakeerathan, Thivya, Schwake, Carolin, Bennett, Jeffrey L., Kleiter, Ingo, Felipe Rucián, Ana

Publikováno v: Scientia

Neuritis òptica; Tomografia de coherència òptica Neuritis óptica; Tomografía de coherencia óptica Optic neuritis; Optical coherence tomography Background To investigate age-related severity, patterns of retinal structural damage, and functional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3991::1a55562e92235574b8d592fa9a1291dd
https://hdl.handle.net/11351/6842

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Autor: Dieter Weichenhan, Tianlu Li, Felipe Prosper, Sven Kracker, Pere Soler-Palacín, Lennart Hammarström, Andrea Martín-Nalda, Javier Rodríguez-Ubreva, Anne Durandy, Mónica Martínez-Gallo, Romina Dieli-Crimi, Anna G. Ferreté-Bonastre, Pavlo Lutsik, Ángel F. Álvarez-Prado, Laura Ciudad, Bodo Grimbacher, Jacques G. Rivière, Carsten Speckmann, Christoph Plass, Esteban Ballestar, Christian Klemann, Amaya Vilas-Zornoza, Hassan Abolhassani, Francesc Català-Moll, Roger Colobran

Publikováno v: Nucleic Acids Research
Dipòsit Digital de la UB
Universidad de Barcelona
Dadun. Depósito Académico Digital de la Universidad de Navarra
Consejo Superior de Investigaciones Científicas (CSIC)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Limfòcits b; Metilació de l'ADN; Genoma Linfocitos b; Metilación de ADN; Genoma B-lymphocytes; DNA methylation; Genome Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leadi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad616ff72e57f74aa817101c105eac1
http://hdl.handle.net/2445/178643

Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes

Autor: Acosta-Herrera, Marialbert, Kerick, Martin, Lopéz-Isac, Elena, Assassi, Shervin, Beretta, Lorenzo, Simeón-Aznar, Carmen Pilar, Ortego-Centeno, Norberto, International SSc Group, Proudman, Susanna M, Australian Scleroderma Interest Group (ASIG), Hunzelmann, Nicolas, Moroncini, Gianluca, de Vries-Bouwstra, Jeska K, Orozco, Gisela, Barton, Anne, Herrick, Ariane L, Terao, Chikashi, Allanore, Yannick, Brown, Matthew A, Radstake, Timothy Rdj, Fonseca, Carmen, Denton, Christopher P, Mayes, Maureen D, Martin, Javier

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Annals of the Rheumatic Diseases
Annals of the Rheumatic Diseases, 80(8), 1040-1047. BMJ PUBLISHING GROUP
Ann Rheum Dis . 2021 Apr 1;80(8):1040-1047
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Scientia

Objective The greatest genetic effect reported for systemic sclerosis (SSc) lies in the major histocompatibility complex (MHC) locus. Leveraging the largest SSc genome-wide association study, we aimed to fine-map this region to identify novel human l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1aa3b23b3a7ed7d024352e8903f1b81
https://hdl.handle.net/10668/17969

The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer

Autor: Institut Català de la Salut, [De Mattos-Arruda L] Department of Oncology and Cancer Research UK Cambridge Institute, Li Ka Shing Centre, Cambridge, UK. University of Cambridge, Cambridge, UK. Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. [Sammut SJ, Ross EM] Department of Oncology and Cancer Research UK Cambridge Institute, Li Ka Shing Centre, Cambridge, UK. University of Cambridge, Cambridge, UK. [Bashford-Rogers R] Department of Medicine, University of Cambridge, Cambridge, UK. [Greenstein E] Department of Immunology, Weizmann Institute of Science, Rehovot, Israel. [Markus H] Center for Noninvasive Diagnostics, Translational Genomics Research Institute, Phoenix, USA. Mayo Clinic Center for Individualized Medicine, Scottsdale, USA. [Mayor R, Arias A] Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain. [Ciriaco N] Servei d’Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. [Martinez-Saez E] Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain. Servei d’Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. [Peg V, Ramon Y Cajal S] Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain. Servei d’Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Cortes J] Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. Ramon y Cajal Hospital, Madrid, Spain. [Seoane J] Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain, Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain, Hospital Universitari Vall d'Hebron

Publikováno v: Scientia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______272::f4dd1ce666b79f6cb5c807837d4d5843
https://hdl.handle.net/2072/433691