Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Ingo Kurth"'
Autor:
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema
Externí odkaz:
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2
Autor:
Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A characteristic molecular change in ImpDis patients is aberrant methylatio
Externí odkaz:
https://doaj.org/article/72db940598164642b5188d503706398c
Autor:
Arnim J. Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F. Hipp, Bhim M. Adhikari, Peter Kochunov, Suresh D. Muthukumaraswamy, Anna Forsyth, Thomas Eggermann, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Both, pharmacological and genome-wide association studies suggest N-methyl-D-aspartate receptor (NMDAR) dysfunction and excitatory/inhibitory (E/I)-imbalance as a major pathophysiological mechanism of schizophrenia. The identification of sha
Externí odkaz:
https://doaj.org/article/2a27b92802e64b309b19055bac2f2fa8
Autor:
Benjamin Rolles, Robert Meyer, Matthias Begemann, Miriam Elbracht, Edgar Jost, Matthias Stelljes, Ingo Kurth, Tim H. Brümmendorf, Gerda Silling
Publikováno v:
Blood Cancer Journal, Vol 13, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/0b4a84eaa8a04567b904bd77dcf1c1f7
Autor:
Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Thomas Eggermann
Publikováno v:
Endocrine Connections, Vol 11, Iss 11, Pp 1-14 (2022)
The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in p atient cohorts with growth disturbances and becomes increasingly important as the prerequisite of pe
Externí odkaz:
https://doaj.org/article/52ab69c02a8747578bd4fbdacf05de0e
Autor:
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Sabine M. Schacht, Ingo Kurth, Miriam Elbracht
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101683- (2023)
Spondyloepimetaphyseal dysplasia (SEMD) is characterized by vertebral, epiphyseal, and metaphyseal alterations. Patients become predominantly apparent with disproportionate short stature. The genetic background of SEMD is heterogeneous, with differen
Externí odkaz:
https://doaj.org/article/1f2638d3e42e4ef89645709085843ec7
Autor:
Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C. Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Panse, Susanne Isfort, Ingo Kurth, Tim H. Brümmendorf, Fabian Beier
Publikováno v:
HemaSphere, Vol 7, Iss 5, p e874 (2023)
Telomere biology disorders (TBD) result from premature telomere shortening due to pathogenic germline variants in telomere maintenance-associated genes. In adults, TBD are characterized by mono/oligosymptomatic clinical manifestations (cryptic TBD) c
Externí odkaz:
https://doaj.org/article/98f8d6fed2b748078c8d62c73b5fbf39
Publikováno v:
Journal of Affective Disorders Reports, Vol 12, Iss , Pp 100535- (2023)
Abstract body: Children, who are born without any perception of pain, tend to develop a severe phenotype of self-injury. Pain, despite being a dreadful experience, is an important warning signal that prevents us from cutting, biting, or burning ourse
Externí odkaz:
https://doaj.org/article/d189d95208a5415a9baad0f3393dd2c6
Autor:
Samuel Kuehs, Laura Teege, Ann-Katrin Hellberg, Christina Stanke, Natja Haag, Ingo Kurth, Robert Blum, Carla Nau, Enrico Leipold
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
The enteric nervous system (ENS) is a complex neuronal network organized in ganglionated plexuses that extend along the entire length of the gastrointestinal tract. Largely independent of the central nervous system, the ENS coordinates motility and p
Externí odkaz:
https://doaj.org/article/5890aa4a64c74251b460ea5d7b57a877
Autor:
Felix Schreibing, Monica T. Hannani, Hyojin Kim, James S. Nagai, Fabio Ticconi, Eleanor Fewings, Tore Bleckwehl, Matthias Begemann, Natalia Torow, Christoph Kuppe, Ingo Kurth, Jennifer Kranz, Dario Frank, Teresa M. Anslinger, Patrick Ziegler, Thomas Kraus, Jürgen Enczmann, Vera Balz, Frank Windhofer, Paul Balfanz, Christian Kurts, Gernot Marx, Nikolaus Marx, Michael Dreher, Rebekka K. Schneider, Julio Saez-Rodriguez, Ivan Costa, Sikander Hayat, Rafael Kramann
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
IntroductionSARS-CoV-2 infection results in varying disease severity, ranging from asymptomatic infection to severe illness. A detailed understanding of the immune response to SARS-CoV-2 is critical to unravel the causative factors underlying differe
Externí odkaz:
https://doaj.org/article/cce264ecd7e04d4b9565ee6ebba1a40b