Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Andrés Caballero Oteyza"'
Autor:
Daniel Danis, Michael J. Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C. Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter J. Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Christopher J. Mungall, Monica C. Munoz-Torres, Justin T. Reese, Filip Rehburg, Bárbara C.S. Reis, Catharina Schuetz, Damian Smedley, Timmy Strauss, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F. Wagstaff, David Zocche, Melissa A. Haendel, Peter N. Robinson
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100371- (2025)
Summary: The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical meas
Externí odkaz:
https://doaj.org/article/2407aca78e494f679194d70b6b83bc68
Autor:
Elena Sindram, Andrés Caballero-Oteyza, Naoko Kogata, Shaina Chor Mei Huang, Zahra Alizadeh, Laura Gámez-Díaz, Mohammad Reza Fazlollhi, Xiao Peng, Bodo Grimbacher, Michael Way, Michele Proietti
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 7 (2023)
Externí odkaz:
https://doaj.org/article/be44d41ed634488ebb81bb9fc0e62e5e
Autor:
Jessica Rojas-Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders characterized by dysfunctional antibody production, low immunoglobulin levels in serum and impaired vaccine responses. The clinical picture is variable, ranging from mil
Externí odkaz:
https://doaj.org/article/5deb30c22ea64b21858b1f2a18cef355
Publikováno v:
Annual Review of Pathology: Mechanisms of Disease. 18:283-310
Fifty years have elapsed since the term common variable immunodeficiency (CVID) was introduced to accommodate the many and varied antibody deficiencies being identified in patients with suspected inborn errors of immunity (IEIs). Since then, how the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7208c17053a3e322d1695318e9fded82
https://doi.org/10.1146/annurev-pathmechdis-031521-024229
https://doi.org/10.1146/annurev-pathmechdis-031521-024229
Autor:
Rensheng Wan, Maximilian Schieck, Andrés Caballero-Oteyza, Winfried Hofmann, Alexis Virgil Cochino, Anna Shcherbina, Roya Sherkat, Clarisse Wache-Mainier, Anita Fernandez, Marc Sultan, Thomas Illig, Bodo Grimbacher, Michele Proietti, Doris Steinemann
Publikováno v:
Journal of Clinical Immunology. 42:1083-1092
Inborn errors of immunity (IEI) are genetically driven disorders. With the advancement of sequencing technologies, a rapidly increasing number of gene defects has been identified, thereby mirroring the high heterogeneity in immunological and clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ed90921270c4988677785b7e4fd81c
https://doi.org/10.1007/s10875-022-01276-8
https://doi.org/10.1007/s10875-022-01276-8
Autor:
Elena Sindram, Andrés Caballero-Oteyza, Naoko Kogata, Shaina Huang, Zahra Alizadeh, Laura Gamez-Diaz, Mohammad Reza Fazlollhi, Xiao Peng, Bodo Grimbacher, Michael Way, Michele Proietti
The seven subunit Arp2/3 complex drives the formation of branched actin networks that are essential for many cellular processes including cell migration. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded by two paralogous genes (ARPC5andA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a505fbff4c5bbdc026b225d3b249c5b4
https://doi.org/10.1101/2023.01.19.524688
https://doi.org/10.1101/2023.01.19.524688
Autor:
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
Funding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e214c1af43f2e99ff7514cb950f136
https://hdl.handle.net/10362/152437
https://hdl.handle.net/10362/152437
Autor:
Sara Posadas-Cantera, Bodo Grimbacher, Nadezhda Camacho-Ordonez, Andrés Caballero-Oteyza, Neftali Jose Ramirez
Publikováno v:
Current Opinion in Immunology. 72:176-185
‘There is no gene for fate’ (citation from the movie ‘GATTACA’) — and there is no gene for CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary immunodeficiency in humans. CVID is characterized by an increased suscept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141118832b8da9c5b5fef54c923c433f
https://doi.org/10.1016/j.coi.2021.05.010
https://doi.org/10.1016/j.coi.2021.05.010
Autor:
Kathleen E. Sullivan, Paul Gray, Debayan Dey, Lars M. Koenig, Daniel F. R. Boehmer, Davide Montin, Matthias Griese, Tomohiro Morio, Tsubasa Okano, Hirokazu Kanegane, Thomas Magg, Francesco Licciardi, Samantha L. Schwartz, Julia Ley-Zaporozhan, Andrés Caballero-Oteyza, Meino Rohlfs, Karl Reiter, Esther N. Park, Jennifer Heimall, Kazutoshi Cho, Michael H. Albert, Brenda M. Calderon, Kento Inoue, Christoph Walz, Christoph Klein, Fabian Hauck, Ronald M. Ferdman, Graeme L. Conn
Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular double-stranded RNA (dsRNA) sensor that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5d3086f2b9ce81b7c525bee36de15a
https://hdl.handle.net/2318/1878269
https://hdl.handle.net/2318/1878269
Autor:
Thomas, Magg, Tsubasa, Okano, Lars M, Koenig, Daniel F R, Boehmer, Samantha L, Schwartz, Kento, Inoue, Jennifer, Heimall, Francesco, Licciardi, Julia, Ley-Zaporozhan, Ronald M, Ferdman, Andrés, Caballero-Oteyza, Esther N, Park, Brenda M, Calderon, Debayan, Dey, Hirokazu, Kanegane, Kazutoshi, Cho, Davide, Montin, Karl, Reiter, Matthias, Griese, Michael H, Albert, Meino, Rohlfs, Paul, Gray, Christoph, Walz, Graeme L, Conn, Kathleen E, Sullivan, Christoph, Klein, Tomohiro, Morio, Fabian, Hauck
Publikováno v:
Sci Immunol
Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular dsRNA sensor that generates 2’−5’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c6684f1754f5d95c5f113d3daad0819
https://pubmed.ncbi.nlm.nih.gov/34145065
https://pubmed.ncbi.nlm.nih.gov/34145065