Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Fabian Hauck"'
Autor:
Dirk Schramm, Carola Schön, Michael H. Albert, Matthias Kappler, Matthias Griese, Simone Reu-Hofer, Elias Seidl, Fabian Hauck, Karl Reiter, Ingo Pawlita
Publikováno v:
Pediatric Pulmonology. 57:273-277
Introduction Pulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. PAP has been reported to be associated with a large number of clinical conditions and diseases. Whole lung lavages can be help
Autor:
Seham Alameer, Tobias Schwerd, Giuseppe Indolfi, Joseph A. Church, Adelheid Cerwenka, Dominic Lenz, Ivo Barić, Jidnyasa Gujar, Thomas Giese, Johann Greil, Christian Staufner, Jens Pahl, Felix Distelmaier, Georg F. Hoffmann, Eberhard Lurz, Nikolas Boy, Anke Dick, Bianca Peters, Ellen Crushell, Holger Prokisch, Christoph Klein, Meena Balasubramanian, Stefan Kölker, Fabian Hauck, Daniele Serranti
Publikováno v:
J. Clin. Immunol., DOI: 10.1007/s10875-021-01110-7 (2021)
Journal of Clinical Immunology
Journal of Clinical Immunology
Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7176568d4fc4003562f22a1716e15672
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62807
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:
Christopher J. Mungall, Matthias Haimel, Fabian Hauck, Marc Hanauer, Nicolas Matentzoglu, Ganna Balagura, Ingo Helbig, Julie A. McMurry, Avi Z. Rosenberg, Amy Brower, Johanna L. Est, Julia Pazmandi, Maximilian Hastreiter, Melissa A. Haendel, Peter D. Galer, Nomi L. Harris, Gerhard Kindle, Michael Hartnett, Daniel Danis, Hugh Kearney, Shiva Ganesan, Yongqun He, Michael A. Gargano, Rebecca L. Peters, Matthias Griese, Roland Krause, Damian Smedley, Shahmir A. Rind, Katrin Knoflach, Tim Jeske, Gareth Baynam, Peter N. Robinson, Michael M. Segal, Leigh C. Carmody, David Lagorce, Monica Munoz-Torres, Christopher G. Chute, Christoph Klein, Zafer Yüksel, Jillian A. Miller, Tomer Talmy, Christina K Rapp, Julie Xian, Tiffany J. Callahan, Samuel A. Wiafe, David Lewis-Smith, Ana Rath, Nicole Vasilevsky, Yarlalu Thomas, Markus G. Seidel, Sebastian Köhler
Publikováno v:
Nucleic Acids Research, 2021, Vol. 49
Nucleic Acids Research
Nucleic Acids Research
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for
Autor:
Marcus Boettcher, Fabian Hauck, Michael Bitar, Andreas Boldt, Ulrike Köhl, Uwe G. Liebert, Thomas Magg, Marian Simon Schulz, Ulrich Sack
Publikováno v:
Cytometry. Part A : the journal of the International Society for Analytical CytologyREFERENCES. 99(8)
Cytomegalovirus (CMV)-specific T cells expand with CMV reactivation and are probably prerequisite for control and protection. Given the critical role STAT5A phosphorylation (pSTAT5A) in T cell proliferation, this study presents a simple and sensitive
Autor:
Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
Publikováno v:
Am J Hum Genet
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/
https://europepmc.org/articles/PMC7332643/
Autor:
Jana Pachlopnik-Schmid, Kirsten Wittke, Horst von Bernuth, Rainer Müller, Klaus Warnatz, Fabian Hauck, Pirmin Habermehl, Leif G. Hanitsch, Claudia Wehr, Gerd Klock, Ulrike Burkhard-Meier, Kaan Boztug, Ulrich Baumann, Maria Fasshauer, Oliver Meyer, Dorothea Pfeiffer-Kascha, Johannes G. Liese, Tim Niehues
This evidence‐based clinical guideline provides consensus‐recommendations for the treatment and care of patients with primary antibody deficiencies (PADs). The guideline group comprised 20 clinical and scientific expert associations of the German
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d38bc4b6224e82f4d7403393c82cbed
Autor:
Ana Krolo, Martin W. Laass, Fabian Hauck, Joachim Roesler, Kaan Boztug, Thomas Magg, Hella Luksch, Angela Rösen-Wolff, Tatjana Hirschmugl, Ivan Bilic
Publikováno v:
Klinische Pädiatrie. 229:113-117
Background Heterozygous point mutations in the GT splice donor consensus sequence of exon 11 of the PIK3R1 gene (coding for p85α, p55α, and p50α regulatory subunits of PI3K) lead to exon skipping and thereby to an aberrant protein that leaves PI3K
Autor:
Annick Lim, Nathalie Lambert, Christelle Lenoir, Anne Rensing-Ehl, Stephan Ehl, Carsten Speckmann, Sebastian Fuchs, Wilma Mannhardt-Laakmann, Klaus Schwarz, Wolfgang W. A. Schamel, Capucine Picard, Fabian Hauck, Britta Blumenthal, Marine Gil, Thomas Vraetz, Sylvain Latour, Alain Fischer, Stephan Borte, Marie Audrain, Emmanuel Martin
Publikováno v:
Clinical Immunology. 161:103-109
Autosomal recessive human ZAP70 deficiency is a rare cause of combined immunodeficiency (CID) characterized by defective CD4 T cells and profound CD8 T cell lymphopenia. Herein, we report two novel patients that extend the molecular genetics, the cli
Publikováno v:
LaboratoriumsMedizin. 39:343-354
Primary immunodeficiency disorders (PIDs) are a group of more than 300 conditions associated with inborn defects of different elements of the immune system. First symptoms usually occur during early infancy, but some PIDs may present at first in adol