Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Shoko, Komatsuzaki"'
Autor:
Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Andy Schumann, Ha-Yeun Chung, Susann S. Schilling, Wibke Jantzen, Sabine Schröder, Markus M. Nöthen, Thomas W. Mühleisen, Christian A. Hübner, Karl-Jürgen Bär
Publikováno v:
Genes, Vol 13, Iss 11, p 2132 (2022)
Background: Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link schiz
Externí odkaz:
https://doaj.org/article/bf813e9189e345fb8bc9ab565cf84c82
Autor:
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007845 (2018)
Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently
Externí odkaz:
https://doaj.org/article/88c96d3ae2aa45ddb907f5a735313301
Autor:
Bär, Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Andy Schumann, Ha-Yeun Chung, Susann S. Schilling, Wibke Jantzen, Sabine Schröder, Markus M. Nöthen, Thomas W. Mühleisen, Christian A. Hübner, Karl-Jürgen
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2132
Background: Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link schiz
Autor:
Alexander, Refisch, Shoko, Komatsuzaki, Martin, Ungelenk, Andy, Schumann, Ha-Yeun, Chung, Susann S, Schilling, Wibke, Jantzen, Sabine, Schröder, Markus M, Nöthen, Thomas W, Mühleisen, Christian A, Hübner, Karl-Jürgen, Bär
Publikováno v:
Genes. 13(11)
Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link schizophrenia and
Autor:
Markus M. Nöthen, Thomas W. Mühleisen, Shoko Komatsuzaki, Andy Schumann, Alexander Refisch, Karl-Jürgen Bär, Ha-Yeun Chung, Christian A. Hübner
Publikováno v:
Schizophrenia research 229, 73-79 (2021). doi:10.1016/j.schres.2020.11.017
Background There is growing evidence for a shared genetic basis between schizophrenia risk and cardiovascular disease. Reduced efferent vagal activity, indexed by reduced heart rate variability (HRV), has been consistently described in patients with
Autor:
Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Ha-Yeun Chung, Andy Schumann, Susann S. Schilling, Wibke Jantzen, Sabine Schröder, Thomas W. Mühleisen, Markus M. Nöthen, Christian A. Hübner, Karl-Jürgen Bär
Publikováno v:
The world journal of biological psychiatry 24(1), 1-11 (2023). doi:10.1080/15622975.2022.2043561
Decreased vagal modulation, which has consistently been observed in schizophrenic patients, might contribute to increased cardiac mortality in schizophrenia. Previously, associations between CHRM2 (Cholinergic Receptor Muscarinic 2) and cardiac auton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152ac563a9bd22b22649c16fa626bca9
Autor:
Katrin Hinderhofer, Stefan Kölker, Georg F. Hoffmann, Konstantin Mechler, Markus Ries, William K Mountford, Shoko Komatsuzaki, Sven F. Garbade, Matthias Zielonka, Tomáš Sláma, Eugen Mengel
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(1)
The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Cons
Autor:
Wolfgang C, Marsch, Shoko, Komatsuzaki, Astrid, Mueller, Monika, Hagemann, Danica, Lange, Larissa, Maemecke, Pablo, Villavicencio-Lorini, Katrin, Hoffmann
Publikováno v:
European journal of dermatology : EJD. 29(3)
Livedoid vasculopathy (LV) has been shown to be associated with hypercoagulability. However, relevant genetic and exogenous thrombophilic factors are not fully determined.To evaluate the frequency of hyperhomocysteinaemia (HHCE) and genotypes of hype
Autor:
Toshihiro Ohura, Osamu Sakamoto, Mitsugu Uematsu, Kazuhiro Haginoya, Yoichi Matsubara, Eishin Ogawa, Yuki Hasegawa, Shoko Komatsuzaki, Nobuyuki Shimozawa
Publikováno v:
Pediatrics International. 57:1189-1192
Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineu
Autor:
Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Markus Ries, William K Mountford, Matthias Zielonka, Shoko Komatsuzaki
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(10)
Krabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard clinical endpoints and biomarker–phenotype correlations are useful for future clinical trials. We per