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5,909 results on '"Herms, A."'

1. GUTs -- how common are they?

Author

Herms, Johannes and Ruhdorfer, Maximilian

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Theory
Abstract

The individual fermion generations of the Standard Model fit neatly into a representation of a simple Grand Unified Theory gauge algebra. If Grand Unification is not realized in nature, this would appear to be a coincidence. We attempt to quantify how frequent this coincidence is among theories with group structure and fermion content similar to the Standard Model. We find that $\mathcal{O}(1/100)$ of consistent fermion representations similar to the Standard Model are unifiable, and discuss how the result depends on our definitions. This purely group-theoretical analysis may be taken as a bottom-up indication for Grand Unification, conceptually similar to a naturalness argument., Comment: 5 pages, 3 figures

Published
2024

2. Flavor-Specific Dark Matter Signatures through the Lens of Neutrino Oscillations

Author

Bhattacharya, Subhaditya, Fabian, Sven, Herms, Johannes, and Jana, Sudip

Subjects
High Energy Physics - Phenomenology
Abstract

We investigate the flavor-specific properties of leptophilic dark matter in neutrino mass models, where dark matter signals are directly correlated with the neutrino oscillation data, providing complementary insights into the neutrino mass hierarchy and CP phases. Notably, this can be accomplished without introducing a flavor-specific portal to dark matter, imposing any new flavor symmetry, or involving flavon fields. As a case study, we analyze the correlation between the flavor-philic nature of dark matter and neutrino oscillation data in the type-II seesaw and Zee-Babu models, and extend this discussion to other neutrino mass models. We analyze the indirect signatures of such leptophilic dark matter, specifically examining the spectrum of the cosmic ray electron/positron flux resulting from the pair annihilation of dark matter in the Galactic halo, and explore correlated lepton-specific signals at collider experiments sensitive to neutrino oscillation data., Comment: 34 pages, 13 figures, 6 tables

Published
2024

3. Enhancing predictability of IDH mutation status in glioma patients at initial diagnosis: a comparative analysis of radiomics from MRI, [18F]FET PET, and TSPO PET

Author

Kaiser, Lena, Quach, S., Zounek, A. J., Wiestler, B., Zatcepin, A., Holzgreve, A., Bollenbacher, A., Bartos, L. M., Ruf, V. C., Böning, G., Thon, N., Herms, J., Riemenschneider, M. J., Stöcklein, S., Brendel, M., Rupprecht, R., Tonn, J. C., Bartenstein, P., von Baumgarten, L., Ziegler, S., and Albert, N. L.

Published
2024
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4. Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS

Author

Chatterjee, Madhurima, Özdemir, Selcuk, Fritz, Christian, Möbius, Wiebke, Kleineidam, Luca, Mandelkow, Eckhard, Biernat, Jacek, Doğdu, Cem, Peters, Oliver, Cosma, Nicoleta Carmen, Wang, Xiao, Schneider, Luisa-Sophia, Priller, Josef, Spruth, Eike, Kühn, Andrea A., Krause, Patricia, Klockgether, Thomas, Vogt, Ina R., Kimmich, Okka, Spottke, Annika, Hoffmann, Daniel C., Fliessbach, Klaus, Miklitz, Carolin, McCormick, Cornelia, Weydt, Patrick, Falkenburger, Björn, Brandt, Moritz, Guenther, René, Dinter, Elisabeth, Wiltfang, Jens, Hansen, Niels, Bähr, Mathias, Zerr, Inga, Flöel, Agnes, Nestor, Peter J., Düzel, Emrah, Glanz, Wenzel, Incesoy, Enise, Bürger, Katharina, Janowitz, Daniel, Perneczky, Robert, Rauchmann, Boris S., Hopfner, Franziska, Wagemann, Olivia, Levin, Johannes, Teipel, Stefan, Kilimann, Ingo, Goerss, Doreen, Prudlo, Johannes, Gasser, Thomas, Brockmann, Kathrin, Mengel, David, Zimmermann, Milan, Synofzik, Matthis, Wilke, Carlo, Selma-González, Judit, Turon-Sans, Janina, Santos-Santos, Miguel Angel, Alcolea, Daniel, Rubio-Guerra, Sara, Fortea, Juan, Carbayo, Álvaro, Lleó, Alberto, Rojas-García, Ricardo, Illán-Gala, Ignacio, Wagner, Michael, Frommann, Ingo, Roeske, Sandra, Bertram, Lucas, Heneka, Michael T., Brosseron, Frederic, Ramirez, Alfredo, Schmid, Matthias, Beschorner, Rudi, Halle, Annett, Herms, Jochen, Neumann, Manuela, Barthélemy, Nicolas R., Bateman, Randall J., Rizzu, Patrizia, Heutink, Peter, Dols-Icardo, Oriol, Höglinger, Günter, Hermann, Andreas, and Schneider, Anja

Published
2024
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7. Pasteurella bettyae Infections in Men Who Have Sex with Men, France

Author

Li, Andy, Herms, Florian, Pataut, Dominique, Louison, Jean-Baptiste, Cassius, Charles, Merimeche, Manel, Bouaziz, Jean David, Bercot, Beatrice, and Fouere, Sebastien

Subjects
MSM (Men who have sex with men) -- Health aspects, Gram-negative bacterial infections -- Risk factors -- Causes of, Bacillus (Bacteria) -- Health aspects, Health
Abstract

Pasteurella bettyae is a gram-negative bacillus for which main reservoirs are cats, dogs, other mammals, and birds. P. bettyae has caused infections of the human genitourinary tract (1) and lungs [...]

Published
2024
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8. Light Neutrinophilic Dark Matter from a Scotogenic Model

Author

Herms, Johannes, Jana, Sudip, K., Vishnu P., and Saad, Shaikh

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment
Abstract

We present a minimal sub-GeV thermal Dark Matter (DM) model where the DM primarily interacts with neutrinos and participates in neutrino mass generation through quantum loop corrections at one-loop level. We discuss the challenges in achieving this in the scotogenic framework and identify a viable variant. Due to minimality and the interplay between obtaining the correct DM relic abundance and neutrino oscillation data, the model predicts (i) a massless lightest neutrino, (ii) enhanced rate of $0\nu \beta \beta$ decay due to loop corrections involving light DM exchange, and (iii) testable lepton flavor-violating signal $\mu\to e\gamma$. Detecting monoenergetic neutrinos from DM annihilation in next-generation neutrino detectors offers a promising way to test this scenario., Comment: 7 pages, 4 figures, comments are welcome!

Published
2023
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13. Einleitung

Author

Steigler-Herms, Joy, Stierstorfer, Klaus, Series Editor, and Steigler-Herms, Joy

Published
2024
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15. Lethal Borna disease virus 1 infections of humans and animals – in-depth molecular epidemiology and phylogeography

Author

Arnt Ebinger, Pauline D. Santos, Florian Pfaff, Ralf Dürrwald, Jolanta Kolodziejek, Kore Schlottau, Viktoria Ruf, Friederike Liesche-Starnecker, Armin Ensser, Klaus Korn, Reiner Ulrich, Jenny Fürstenau, Kaspar Matiasek, Florian Hansmann, Torsten Seuberlich, Daniel Nobach, Matthias Müller, Antonie Neubauer-Juric, Marcel Suchowski, Markus Bauswein, Hans-Helmut Niller, Barbara Schmidt, Dennis Tappe, Daniel Cadar, Timo Homeier-Bachmann, Viola C. Haring, Kirsten Pörtner, Christina Frank, Lars Mundhenk, Bernd Hoffmann, Jochen Herms, Wolfgang Baumgärtner, Norbert Nowotny, Jürgen Schlegel, Rainer G. Ulrich, Martin Beer, and Dennis Rubbenstroth

Subjects
Science
Abstract

Abstract Borna disease virus 1 (BoDV-1) is the causative agent of Borna disease, a fatal neurologic disorder of domestic mammals and humans, resulting from spill-over infection from its natural reservoir host, the bicolored white-toothed shrew (Crocidura leucodon). The known BoDV-1-endemic area is remarkably restricted to parts of Germany, Austria, Switzerland and Liechtenstein. To gain comprehensive data on its occurrence, we analysed diagnostic material from suspected BoDV-1-induced encephalitis cases based on clinical and/or histopathological diagnosis. BoDV-1 infection was confirmed by RT-qPCR in 207 domestic mammals, 28 humans and seven wild shrews. Thereby, this study markedly raises the number of published laboratory-confirmed human BoDV-1 infections and provides a first comprehensive summary. Generation of 136 new BoDV-1 genome sequences from animals and humans facilitated an in-depth phylogeographic analysis, allowing for the definition of risk areas for zoonotic BoDV-1 transmission and facilitating the assessment of geographical infection sources. Consistent with the low mobility of its reservoir host, BoDV-1 sequences showed a remarkable geographic association, with individual phylogenetic clades occupying distinct areas. The closest genetic relatives of most human-derived BoDV-1 sequences were located at distances of less than 40 km, indicating that spill-over transmission from the natural reservoir usually occurs in the patient´s home region.

Published
2024
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16. Regional desynchronization of microglial activity is associated with cognitive decline in Alzheimer’s disease

Author

Artem Zatcepin, Johannes Gnörich, Boris-Stephan Rauchmann, Laura M. Bartos, Stephan Wagner, Nicolai Franzmeier, Maura Malpetti, Xianyuan Xiang, Yuan Shi, Samira Parhizkar, Maximilian Grosch, Karin Wind-Mark, Sebastian T. Kunte, Leonie Beyer, Carolin Meyer, Desirée Brösamle, Ann-Christin Wendeln, Collins Osei-Sarpong, Steffanie Heindl, Arthur Liesz, Sophia Stoecklein, Gloria Biechele, Anika Finze, Florian Eckenweber, Simon Lindner, Axel Rominger, Peter Bartenstein, Michael Willem, Sabina Tahirovic, Jochen Herms, Katharina Buerger, Mikael Simons, Christian Haass, Rainer Rupprecht, Markus J. Riemenschneider, Nathalie L. Albert, Marc Beyer, Jonas J. Neher, Lars Paeger, Johannes Levin, Günter U. Höglinger, Robert Perneczky, Sibylle I. Ziegler, and Matthias Brendel

Subjects
Alzheimer’s disease, Dementia, Microglia, Neuroinflammation, TSPO, PET, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Background Microglial activation is one hallmark of Alzheimer disease (AD) neuropathology but the impact of the regional interplay of microglia cells in the brain is poorly understood. We hypothesized that microglial activation is regionally synchronized in the healthy brain but experiences regional desynchronization with ongoing neurodegenerative disease. We addressed the existence of a microglia connectome and investigated microglial desynchronization as an AD biomarker. Methods To validate the concept, we performed microglia depletion in mice to test whether interregional correlation coefficients (ICCs) of 18 kDa translocator protein (TSPO)-PET change when microglia are cleared. Next, we evaluated the influence of dysfunctional microglia and AD pathophysiology on TSPO-PET ICCs in the mouse brain, followed by translation to a human AD-continuum dataset. We correlated a personalized microglia desynchronization index with cognitive performance. Finally, we performed single-cell radiotracing (scRadiotracing) in mice to ensure the microglial source of the measured desynchronization. Results Microglia-depleted mice showed a strong ICC reduction in all brain compartments, indicating microglia-specific desynchronization. AD mouse models demonstrated significant reductions of microglial synchronicity, associated with increasing variability of cellular radiotracer uptake in pathologically altered brain regions. Humans within the AD-continuum indicated a stage-depended reduction of microglia synchronicity associated with cognitive decline. scRadiotracing in mice showed that the increased TSPO signal was attributed to microglia. Conclusion Using TSPO-PET imaging of mice with depleted microglia and scRadiotracing in an amyloid model, we provide first evidence that a microglia connectome can be assessed in the mouse brain. Microglia synchronicity is closely associated with cognitive decline in AD and could serve as an independent personalized biomarker for disease progression.

Published
2024
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17. Author Correction: Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE

Author

Parhizkar, Samira, Arzberger, Thomas, Brendel, Matthias, Kleinberger, Gernot, Deussing, Maximilian, Focke, Carola, Nuscher, Brigitte, Xiong, Monica, Ghasemigharagoz, Alireza, Katzmarski, Natalie, Krasemann, Susanne, Lichtenthaler, Stefan F., Müller, Stephan A., Colombo, Alessio, Monasor, Laura Sebastian, Tahirovic, Sabina, Herms, Jochen, Willem, Michael, Pettkus, Nadine, Butovsky, Oleg, Bartenstein, Peter, Edbauer, Dieter, Rominger, Axel, Ertürk, Ali, Grathwohl, Stefan A., Neher, Jonas J., Holtzman, David M., Meyer-Luehmann, Melanie, and Haass, Christian

Published
2024
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19. Pasteurella bettyae Infections in Men Who Have Sex with Men, France

Author

Andy Li, Florian Herms, Dominique Pataut, Jean-Baptiste Louison, Charles Cassius, Manel Merimèche, Jean David Bouaziz, Béatrice Berçot, and Sébastien Fouéré

Subjects
Pasteurella bettyae, bacteria, antimicrobial resistance, men who have sex with men, MSM, sexually transmitted infections, Medicine, Infectious and parasitic diseases, RC109-216
Abstract

Pasteurella bettyae is a gram-negative bacillus sporadically involved in human infections; its main reservoirs are cats and dogs. A recent publication suggests the possibility of sexual transmission leading to genital infections in men who have sex with men. We report 9 cases in France of genital infection among this population.

Published
2024
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20. Integrated analyses reveal two molecularly and clinically distinct subtypes of H3 K27M-mutant diffuse midline gliomas with prognostic significance

Author

Stegat, Lotte, Eckhardt, Alicia, Gocke, Antonia, Neyazi, Sina, Pohl, Lara, Schmid, Simone, Dottermusch, Matthias, Frank, Stephan, Pinnschmidt, Hans, Herms, Jochen, Glatzel, Markus, Snuderl, Matija, Schweizer, Leonille, Thomas, Christian, Neumann, Julia, Dorostkar, Mario M., Schüller, Ulrich, and Wefers, Annika K.

Published
2024
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21. Lethal Borna disease virus 1 infections of humans and animals – in-depth molecular epidemiology and phylogeography

Author

Ebinger, Arnt, Santos, Pauline D., Pfaff, Florian, Dürrwald, Ralf, Kolodziejek, Jolanta, Schlottau, Kore, Ruf, Viktoria, Liesche-Starnecker, Friederike, Ensser, Armin, Korn, Klaus, Ulrich, Reiner, Fürstenau, Jenny, Matiasek, Kaspar, Hansmann, Florian, Seuberlich, Torsten, Nobach, Daniel, Müller, Matthias, Neubauer-Juric, Antonie, Suchowski, Marcel, Bauswein, Markus, Niller, Hans-Helmut, Schmidt, Barbara, Tappe, Dennis, Cadar, Daniel, Homeier-Bachmann, Timo, Haring, Viola C., Pörtner, Kirsten, Frank, Christina, Mundhenk, Lars, Hoffmann, Bernd, Herms, Jochen, Baumgärtner, Wolfgang, Nowotny, Norbert, Schlegel, Jürgen, Ulrich, Rainer G., Beer, Martin, and Rubbenstroth, Dennis

Published
2024
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22. Regional desynchronization of microglial activity is associated with cognitive decline in Alzheimer’s disease

Author

Zatcepin, Artem, Gnörich, Johannes, Rauchmann, Boris-Stephan, Bartos, Laura M., Wagner, Stephan, Franzmeier, Nicolai, Malpetti, Maura, Xiang, Xianyuan, Shi, Yuan, Parhizkar, Samira, Grosch, Maximilian, Wind-Mark, Karin, Kunte, Sebastian T., Beyer, Leonie, Meyer, Carolin, Brösamle, Desirée, Wendeln, Ann-Christin, Osei-Sarpong, Collins, Heindl, Steffanie, Liesz, Arthur, Stoecklein, Sophia, Biechele, Gloria, Finze, Anika, Eckenweber, Florian, Lindner, Simon, Rominger, Axel, Bartenstein, Peter, Willem, Michael, Tahirovic, Sabina, Herms, Jochen, Buerger, Katharina, Simons, Mikael, Haass, Christian, Rupprecht, Rainer, Riemenschneider, Markus J., Albert, Nathalie L., Beyer, Marc, Neher, Jonas J., Paeger, Lars, Levin, Johannes, Höglinger, Günter U., Perneczky, Robert, Ziegler, Sibylle I., and Brendel, Matthias

Published
2024
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23. Exploring the genetics of lithium response in bipolar disorders

Author

Herrera-Rivero, Marisol, Adli, Mazda, Akiyama, Kazufumi, Akula, Nirmala, Amare, Azmeraw T., Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Backlund, Lena, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Bhattacharjee, Abesh Kumar, Biernacka, Joanna M., Birner, Armin, Cearns, Micah, Cervantes, Pablo, Chen, Hsi-Chung, Chillotti, Caterina, Cichon, Sven, Clark, Scott R., Colom, Francesc, Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Degenhardt, Franziska, Del Zompo, Maria, DePaulo, J. Raymond, Etain, Bruno, Falkai, Peter, Ferensztajn-Rochowiak, Ewa, Forstner, Andreas J., Frank, Josef, Frisén, Louise, Frye, Mark A., Fullerton, Janice M., Gallo, Carla, Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hashimoto, Ryota, Hasler, Roland, Hauser, Joanna, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Hou, Liping, Hsu, Yi-Hsiang, Jamain, Stephane, Jiménez, Esther, Kahn, Jean-Pierre, Kassem, Layla, Kato, Tadafumi, Kelsoe, John, Kittel-Schneider, Sarah, Kuo, Po-Hsiu, Kusumi, Ichiro, König, Barbara, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Maj, Mario, Manchia, Mirko, Marie-Claire, Cynthia, Martinsson, Lina, McCarthy, Michael J., McElroy, Susan L., Millischer, Vincent, Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Novák, Tomas, Nöthen, Markus M., O’Donovan, Claire, Ozaki, Norio, Papiol, Sergi, Pfennig, Andrea, Pisanu, Claudia, Potash, James B., Reif, Andreas, Reininghaus, Eva, Richard-Lepouriel, Hélène, Roberts, Gloria, Rouleau, Guy A., Rybakowski, Janusz K., Schalling, Martin, Schofield, Peter R., Schubert, Klaus Oliver, Schulte, Eva C., Schweizer, Barbara W., Severino, Giovanni, Shekhtman, Tatyana, Shilling, Paul D., Shimoda, Katzutaka, Simhandl, Christian, Slaney, Claire M., Squassina, Alessio, Stamm, Thomas, Stopkova, Pavla, Streit, Fabian, Tekola-Ayele, Fasil, Thalamuthu, Anbupalam, Tortorella, Alfonso, Turecki, Gustavo, Veeh, Julia, Vieta, Eduard, Viswanath, Biju, Witt, Stephanie H., Zandi, Peter P., Alda, Martin, Bauer, Michael, McMahon, Francis J., Mitchell, Philip B., Rietschel, Marcella, Schulze, Thomas G., and Baune, Bernhard T.

Published
2024
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24. Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study

Author

Ou, Anna H., Rosenthal, Sara B., Adli, Mazda, Akiyama, Kazufumi, Akula, Nirmala, Alda, Martin, Amare, Azmeraw T., Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Backlund, Lena, Bauer, Michael, Baune, Bernhard T., Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Bhattacharjee, Abesh Kumar, Biernacka, Joanna M., Cervantes, Pablo, Chen, Guo-Bo, Chen, Hsi-Chung, Chillotti, Caterina, Cichon, Sven, Clark, Scott R., Colom, Francesc, Cousins, David A., Cruceanu, Cristiana, Czerski, Piotr M., Dantas, Clarissa R., Dayer, Alexandre, Del Zompo, Maria, Degenhardt, Franziska, DePaulo, J. Raymond, Étain, Bruno, Falkai, Peter, Fellendorf, Frederike Tabea, Ferensztajn-Rochowiak, Ewa, Forstner, Andreas J., Frisén, Louise, Frye, Mark A., Fullerton, Janice M., Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Grof, Paul, Gruber, Oliver, Hashimoto, Ryota, Hauser, Joanna, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Hofmann, Andrea, Hou, Liping, Jamain, Stephane, Jiménez, Esther, Kahn, Jean-Pierre, Kassem, Layla, Kato, Tadafumi, Kittel-Schneider, Sarah, König, Barbara, Kuo, Po-Hsiu, Kusumi, Ichiro, Lackner, Nina, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Jaramillo, Carlos A. López, MacQueen, Glenda, Maj, Mario, Manchia, Mirko, Marie-Claire, Cynthia, Martinsson, Lina, Mattheisen, Manuel, McCarthy, Michael J., McElroy, Susan L., McMahon, Francis J., Mitchell, Philip B., Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Nöthen, Markus M., Novák, Tomas, Ösby, Urban, Ozaki, Norio, Papiol, Sergi, Perlis, Roy H., Pisanu, Claudia, Potash, James B., Pfennig, Andrea, Reich-Erkelenz, Daniela, Reif, Andreas, Reininghaus, Eva Z., Rietschel, Marcella, Rouleau, Guy A., Rybakowski, Janusz K., Schalling, Martin, Schofield, Peter R., Schubert, K. Oliver, Schulze, Thomas G., Schweizer, Barbara W., Seemüller, Florian, Severino, Giovanni, Shekhtman, Tatyana, Shilling, Paul D., Shimoda, Kazutaka, Simhandl, Christian, Slaney, Claire M., Squassina, Alessio, Stamm, Thomas, Stopkova, Pavla, Tighe, Sarah K., Tortorella, Alfonso, Turecki, Gustavo, Vieta, Eduard, Volkert, Julia, Witt, Stephanie, Wray, Naomi R., Wright, Adam, Young, L. Trevor, Zandi, Peter P., and Kelsoe, John R.

Published
2024
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28. Neutrino mass hierarchy from the discrete dark matter model

Author

Bonilla, Cesar, Herms, Johannes, Medina, Omar, and Peinado, Eduardo

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Theory
Abstract

We explore a possible explanation for the hierarchy in scale between the atmospheric and solar neutrino mass differences ($\lvert \Delta m^{2}_{31} \rvert$, and $\Delta m^{2}_{21}$) through the presence of two distinct neutrino mass mechanisms from tree- and one-loop-level contributions. We demonstrate that the ingredients needed to explain this hierarchy are present in the minimal discrete dark matter model [arXiv:2301.10811]. This scenario is characterized by adding new RH neutrinos and scalar $SU(2)$ doublets to the Standard Model as triplet representations of an $A_4$ flavour symmetry. The $A_4$ symmetry breaking, which occurs at the electroweak scale, leads to a residual $\mathbb{Z}_2$ symmetry responsible for the dark matter stability and dictates the neutrino phenomenology. We show that CP breaking in the scalar potential is needed to fit the neutrino mixing angles., Comment: 8 pages, 5 figures, 4 tables. Contribution to the Proceedings of the 8th Symposium on Prospects in the Physics of Discrete Symmetries (DISCRETE 2022), 7-11 November 2022, Baden-Baden, Germany. arXiv admin note: text overlap with arXiv:2301.10811

Published
2023

29. Discrete dark matter mechanism as the source of neutrino mass scales

Author

Bonilla, Cesar, Herms, Johannes, Medina, Omar, and Peinado, Eduardo

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Theory
Abstract

The hierarchy in scale between atmospheric and solar neutrino mass splittings is investigated through two distinct neutrino mass mechanisms, from tree- and one-loop-level contributions. We demonstrate that the minimal discrete dark matter mechanism contains the ingredients for explaining this hierarchy. This scenario is characterized by adding new RH neutrinos and scalar $SU(2)$-doublets to the Standard Model as triplet representations of an $A_4$ flavor symmetry. The $A_4$ symmetry breaking, which occurs at the electroweak scale, leads to a residual $\mathbb{Z}_2$ symmetry responsible for the dark matter stability and dictates the neutrino phenomenology. Finally, we show that to reproduce the neutrino mixing angles correctly it is necessary to violate CP in the scalar potential., Comment: 23 pages, 6 figures and 3 tables. v2: matches published version

Published
2023
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30. Exploring the genetics of lithium response in bipolar disorders

Author

Marisol Herrera-Rivero, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Azmeraw T. Amare, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M. Biernacka, Armin Birner, Micah Cearns, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Francesc Colom, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Bruno Etain, Peter Falkai, Ewa Ferensztajn-Rochowiak, Andreas J. Forstner, Josef Frank, Louise Frisén, Mark A. Frye, Janice M. Fullerton, Carla Gallo, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Roland Hasler, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, Yi-Hsiang Hsu, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Po-Hsiu Kuo, Ichiro Kusumi, Barbara König, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Mario Maj, Mirko Manchia, Cynthia Marie-Claire, Lina Martinsson, Michael J. McCarthy, Susan L. McElroy, Vincent Millischer, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Tomas Novák, Markus M. Nöthen, Claire O’Donovan, Norio Ozaki, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James B. Potash, Andreas Reif, Eva Reininghaus, Hélène Richard-Lepouriel, Gloria Roberts, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, Klaus Oliver Schubert, Eva C. Schulte, Barbara W. Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M. Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fabian Streit, Fasil Tekola-Ayele, Anbupalam Thalamuthu, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Biju Viswanath, Stephanie H. Witt, Peter P. Zandi, Martin Alda, Michael Bauer, Francis J. McMahon, Philip B. Mitchell, Marcella Rietschel, Thomas G. Schulze, and Bernhard T. Baune

Subjects
Bipolar disorder, Lithium treatment, Psychiatric symptoms, Comorbidity, Genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract

Abstract Background Lithium (Li) remains the treatment of choice for bipolar disorders (BP). Its mood-stabilizing effects help reduce the long-term burden of mania, depression and suicide risk in patients with BP. It also has been shown to have beneficial effects on disease-associated conditions, including sleep and cardiovascular disorders. However, the individual responses to Li treatment vary within and between diagnostic subtypes of BP (e.g. BP-I and BP-II) according to the clinical presentation. Moreover, long-term Li treatment has been linked to adverse side-effects that are a cause of concern and non-adherence, including the risk of developing chronic medical conditions such as thyroid and renal disease. In recent years, studies by the Consortium on Lithium Genetics (ConLiGen) have uncovered a number of genetic factors that contribute to the variability in Li treatment response in patients with BP. Here, we leveraged the ConLiGen cohort (N = 2064) to investigate the genetic basis of Li effects in BP. For this, we studied how Li response and linked genes associate with the psychiatric symptoms and polygenic load for medical comorbidities, placing particular emphasis on identifying differences between BP-I and BP-II. Results We found that clinical response to Li treatment, measured with the Alda scale, was associated with a diminished burden of mania, depression, substance and alcohol abuse, psychosis and suicidal ideation in patients with BP-I and, in patients with BP-II, of depression only. Our genetic analyses showed that a stronger clinical response to Li was modestly related to lower polygenic load for diabetes and hypertension in BP-I but not BP-II. Moreover, our results suggested that a number of genes that have been previously linked to Li response variability in BP differentially relate to the psychiatric symptomatology, particularly to the numbers of manic and depressive episodes, and to the polygenic load for comorbid conditions, including diabetes, hypertension and hypothyroidism. Conclusions Taken together, our findings suggest that the effects of Li on symptomatology and comorbidity in BP are partially modulated by common genetic factors, with differential effects between BP-I and BP-II.

Published
2024
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31. Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation

Author

Neyazi, Sina, Yamazawa, Erika, Hack, Karoline, Tanaka, Shota, Nagae, Genta, Kresbach, Catena, Umeda, Takayoshi, Eckhardt, Alicia, Tatsuno, Kenji, Pohl, Lara, Hana, Taijun, Bockmayr, Michael, Kim, Phyo, Dorostkar, Mario M., Takami, Toshihiro, Obrecht, Denise, Takai, Keisuke, Suwala, Abigail K., Komori, Takashi, Godbole, Shweta, Wefers, Annika K., Otani, Ryohei, Neumann, Julia E., Higuchi, Fumi, Schweizer, Leonille, Nakanishi, Yuta, Monoranu, Camelia-Maria, Takami, Hirokazu, Engertsberger, Lara, Yamada, Keisuke, Ruf, Viktoria, Nomura, Masashi, Mohme, Theresa, Mukasa, Akitake, Herms, Jochen, Takayanagi, Shunsaku, Mynarek, Martin, Matsuura, Reiko, Lamszus, Katrin, Ishii, Kazuhiko, Kluwe, Lan, Imai, Hideaki, von Deimling, Andreas, Koike, Tsukasa, Benesch, Martin, Kushihara, Yoshihiro, Snuderl, Matija, Nambu, Shohei, Frank, Stephan, Omura, Takaki, Hagel, Christian, Kugasawa, Kazuha, Mautner, Viktor F., Ichimura, Koichi, Rutkowski, Stefan, Aburatani, Hiroyuki, Saito, Nobuhito, and Schüller, Ulrich

Published
2024
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33. Host genetics and nutrition

Author

Martínez, Adrian Odriozola, primary, Benito, Adriana González, additional, Álvarez-Herms, Jesús, additional, and Corbi, Francesc, additional

Published
2024
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35. Fast-track neuropathological screening for neurodegenerative diseases

Author

Benjamin Englert, Sigrun Roeber, Thomas Arzberger, Viktoria Ruf, Otto Windl, and Jochen Herms

Subjects
Neuropathology, Dementia, Movement disorders, Prion disease, Alzheimer disease, Lewy body disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Background: The postmortem diagnostic of individuals having suffered presumptive neurodegenerative disease comprises exclusion of a prion disease, extensive brain sampling and histopathological evaluation, which are resource-intensive and time consuming. To exclude prion disease and to achieve prompt accurate preliminary diagnosis, we developed a fast-track procedure for the histopathological assessment of brains from patients with suspected neurodegenerative disease. Methods: Based on the screening of two brain regions (frontal cortex and cerebellum) with H&E and six immunohistochemical stainings in 133 brain donors, a main histopathological diagnosis was established and compared to the final diagnosis made after a full histopathological work-up according to our brain bank standard procedure. Results: In over 96 % of cases there was a concordance between the fast-track and the final main neuropathological diagnosis. A prion disease was identified in four cases without prior clinical suspicion of a prion infection. Conclusion: The fast-track screening approach relying on two defined, easily accessible brain regions is sufficient to obtain a reliable tentative main diagnosis in individuals with neurodegenerative disease and thus allows for a prompt feedback to the physicians. However, a more thorough histological work-up taking into account the clinical history and the working diagnosis from fast-track screening is necessary for accurate staging and for assessment of co-pathologies.

Published
2024
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36. Towards multicenter β-amyloid PET imaging in mouse models: A triple scanner head-to-head comparison

Author

Johannes Gnörich, Mara Koehler, Karin Wind-Mark, Carolin Klaus, Artem Zatcepin, Giovanna Palumbo, Manvir Lalia, Laura Sebastian Monasor, Leonie Beyer, Florian Eckenweber, Maximilian Scheifele, Franz-Josef Gildehaus, Barbara von Ungern-Sternberg, Henryk Barthel, Osama Sabri, Peter Bartenstein, Jochen Herms, Sabina Tahirovic, Nicolai Franzmeier, Sibylle Ziegler, and Matthias Brendel

Subjects
None, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Aim: β-amyloid (Aβ) small animal PET facilitates quantification of fibrillar amyloidosis in Alzheimer's disease (AD) mouse models. Thus, the methodology is receiving growing interest as a monitoring tool in preclinical drug trials. In this regard, harmonization of data from different scanners at multiple sites would allow the establishment large collaborative cohorts and may facilitate efficacy comparison of different treatments. Therefore, we objected to determine the level of agreement of Aβ-PET quantification by a head-to-head comparison of three different state-of-the-art small animal PET scanners, which could help pave the way for future multicenter studies. Methods: Within a timeframe of 5 ± 2 weeks, transgenic APPPS1 (n = 9) and wild-type (WT) (n = 8) mice (age range: 13–16 months) were examined three times by Aβ-PET ([18F]florbetaben) using a Siemens Inveon DPET, a MedisonanoScan PET/MR, and a MedisonanoScan PET/CT with harmonized reconstruction protocols. Cortex-to-white-matter 30–60 min p.i. standardized uptake value ratios (SUVRCTX/WM) were calculated to compare binding differences, effect sizes (Cohen's d) and z-score values of APPPS1 relative to WT mice. Correlation coefficients (Pearson's r) were calculated for the agreement of individual SUVR between different scanners. Voxel-wise analysis was used to determine the agreement of spatial pathology patterns. For validation of PET imaging against the histological gold standard, individual SUVR values were subject to a correlation analysis with area occupancy of methoxy‑X04 staining. Results: All three small animal PET scanners yielded comparable group differences between APPPS1 and WT mice (∆PET=20.4 % ± 2.9 %, ∆PET/MR=18.4 % ± 4.5 %, ∆PET/CT=18.1 % ± 3.3 %). Voxel-wise analysis confirmed a high degree of congruency of the spatial pattern (Dice coefficient (DC)PETvs.PET/MR=83.0 %, DCPETvs.PET/CT=69.3 %, DCPET/MRvs.PET/CT=81.9 %). Differences in the group level variance of the three scanners resulted in divergent z-scores (zPET=11.5 ± 1.6; zPET/MR=5.3 ± 1.3; zPET/CT=3.4 ± 0.6) and effect sizes (dPET=8.5, dPET/MR=4.5, dPET/CT=4.1). However, correlations at the individual mouse level were still strong between scanners (rPETvs.PET/MR=0.96, rPETvs.PET/CT=0.91, rPET/MRvs.PET/CT=0.87; all p ≤ 0.0001). Methoxy-X04 staining exhibited a significant correlation across all three PET machines combined (r = 0.76, p < 0.0001) but also at individual level (PET: r = 0.81, p = 0.026; PET/MR: r = 0.89, p = 0.0074; PET/CT: r = 0.93, p = 0.0028). Conclusions: Our comparison of standardized small animal Aβ-PET acquired by three different scanners substantiates the possibility of moving towards a multicentric approach in preclinical AD research. The alignment of image acquisition and analysis methods achieved good overall comparability between data sets. Nevertheless, differences in variance of sensitivity and specificity of different scanners may limit data interpretation at the individual mouse level and deserves methodological optimization.

Published
2024
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37. The potential of Pseudomonas fluorescens SBW25 to produce viscosin enhances wheat root colonization and shapes root-associated microbial communities in a plant genotype-dependent manner in soil systems

Author

Ying Guan, Frederik Bak, Rosanna Catherine Hennessy, Courtney Horn Herms, Christine Lorenzen Elberg, Dorte Bodin Dresbøll, Anne Winding, Rumakanta Sapkota, and Mette Haubjerg Nicolaisen

Subjects
rhizoplane, secondary metabolites, cyclic lipopeptides, plant microbiome, community assembly, protists, Microbiology, QR1-502
Abstract

ABSTRACT Microorganisms interact with plant roots through colonization of the root surface, i.e., the rhizoplane or the surrounding soil, i.e., the rhizosphere. Beneficial rhizosphere bacteria such as Pseudomonas spp. can promote plant growth and protect against pathogens by producing a range of bioactive compounds, including specialized metabolites like cyclic lipopeptides (CLPs) known for their biosurfactant and antimicrobial activities. However, the role of CLPs in natural soil systems during bacteria-plant interactions is underexplored. Here, Pseudomonas fluorescens SBW25, producing the CLP viscosin, was used to study the impact of viscosin on bacterial root colonization and microbiome assembly in two cultivars of winter wheat (Heerup and Sheriff). We inoculated germinated wheat seeds with SBW25 wild type or a viscosin-deficient mutant and grew the plants in agricultural soil. After 2 weeks, enhanced root colonization of SBW25 wild type compared to the viscosin-deficient mutant was observed, while no differences were observed between wheat cultivars. In contrast, the impact on root-associated microbial community structure was plant-genotype-specific, and SBW25 wild type specifically reduced the relative abundance of an unclassified oomycete and Phytophthora in Sheriff and Heerup, respectively. This study provides new insights into the natural role of viscosin and specifically highlights the importance of viscosin in wheat root colonization under natural soil conditions and in shaping the root microbial communities associated with different wheat cultivars. Furthermore, it pinpoints the significance of microbial microdiversity, plant genotype, and microbe-microbe interactions when studying colonization of plant roots.IMPORTANCEUnderstanding parameters governing microbiome assembly on plant roots is critical for successfully exploiting beneficial plant-microbe interactions for improved plant growth under low-input conditions. While it is well-known from in vitro studies that specialized metabolites are important for plant-microbe interactions, e.g., root colonization, studies on the ecological role under natural soil conditions are limited. This might explain the often-low translational power from laboratory testing to field performance of microbial inoculants. Here, we showed that viscosin synthesis potential results in a differential impact on the microbiome assembly dependent on wheat cultivar, unlinked to colonization potential. Overall, our study provides novel insights into factors governing microbial assembly on plant roots, and how this has a derived but differential effect on the bacterial and protist communities.

Published
2024
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38. Neurotropic Highly Pathogenic Avian Influenza A(H5N1) Virus in Red Foxes, Northern Germany

Author

Baechlein, Christine, Kleinschmidt, Sven, Hartmann, Dorothee, Kammeyer, Patricia, Wohlke, Anne, Warmann, Tobias, Herms, Louise, Kuhl, Bianca, Beineke, Andreas, Wohlsein, Peter, Harder, Timm, and Runge, Martin

Subjects
Avian influenza, Avian influenza viruses, Infection, Health
Abstract

Since emergence of the highly pathogenic avian influenza virus (HPAIV) H5 A/Goose/Guangdong/1/1996 (gs/GD) lineage in 1996, successors continue to circulate in waves around the world, leading to massive losses in [...]

Published
2023
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39. Light thermal relics enabled by a second Higgs

Author

Herms, Johannes, Jana, Sudip, K., Vishnu P., and Saad, Shaikh

Subjects
High Energy Physics - Phenomenology
Abstract

Sub-GeV thermal relic dark matter typically requires the existence of a light mediator particle. We introduce the light two-Higgs-doublet portal, illustrated by a minimal UV-complete model for sub-GeV dark matter with kinematically forbidden annihilations into leptons. All new physics states in this scenario lie at or below the electroweak scale, affecting Higgs physics, the muon anomalous magnetic moment and potentially neutrino masses. Observation of radiative dark matter annihilation by future MeV gamma-ray telescopes would be key to unambiguously identify the scenario., Comment: IDM2022 proceedings submission to SciPost

Published
2022

40. Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder

Author

Amare, Azmeraw T., Thalamuthu, Anbupalam, Schubert, Klaus Oliver, Fullerton, Janice M., Ahmed, Muktar, Hartmann, Simon, Papiol, Sergi, Heilbronner, Urs, Degenhardt, Franziska, Tekola-Ayele, Fasil, Hou, Liping, Hsu, Yi-Hsiang, Shekhtman, Tatyana, Adli, Mazda, Akula, Nirmala, Akiyama, Kazufumi, Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Hasler, Roland, Richard-Lepouriel, Hélène, Perroud, Nader, Backlund, Lena, Bhattacharjee, Abesh Kumar, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Biernacka, Joanna M., Birner, Armin, Marie-Claire, Cynthia, Cervantes, Pablo, Chen, Hsi-Chung, Chillotti, Caterina, Cichon, Sven, Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Del Zompo, Maria, DePaulo, J. Raymond, Étain, Bruno, Jamain, Stephane, Falkai, Peter, Forstner, Andreas J., Frisen, Louise, Frye, Mark A., Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Fallgatter, Andreas J., Stegmaier, Sophia, Ethofer, Thomas, Biere, Silvia, Petrova, Kristiyana, Schuster, Ceylan, Adorjan, Kristina, Budde, Monika, Heilbronner, Maria, Kalman, Janos L., Kohshour, Mojtaba Oraki, Reich-Erkelenz, Daniela, Schaupp, Sabrina K., Schulte, Eva C., Senner, Fanny, Vogl, Thomas, Anghelescu, Ion-George, Arolt, Volker, Dannlowski, Udo, Dietrich, Detlef, Figge, Christian, Jäger, Markus, Lang, Fabian U., Juckel, Georg, Konrad, Carsten, Reimer, Jens, Schmauß, Max, Schmitt, Andrea, Spitzer, Carsten, von Hagen, Martin, Wiltfang, Jens, Zimmermann, Jörg, Andlauer, Till F. M., Fischer, Andre, Bermpohl, Felix, Ritter, Philipp, Matura, Silke, Gryaznova, Anna, Falkenberg, Irina, Yildiz, Cüneyt, Kircher, Tilo, Schmidt, Julia, Koch, Marius, Gade, Kathrin, Trost, Sarah, Haussleiter, Ida S., Lambert, Martin, Rohenkohl, Anja C., Kraft, Vivien, Grof, Paul, Hashimoto, Ryota, Hauser, Joanna, Herms, Stefan, Hoffmann, Per, Jiménez, Esther, Kahn, Jean-Pierre, Kassem, Layla, Kuo, Po-Hsiu, Kato, Tadafumi, Kelsoe, John, Kittel-Schneider, Sarah, Ferensztajn-Rochowiak, Ewa, König, Barbara, Kusumi, Ichiro, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Tortorella, Alfonso, Manchia, Mirko, Martinsson, Lina, McCarthy, Michael J., McElroy, Susan, Colom, Francesc, Millischer, Vincent, Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Nöthen, Markus M., Novák, Tomas, O’Donovan, Claire, Ozaki, Norio, Pfennig, Andrea, Pisanu, Claudia, Potash, James B., Reif, Andreas, Reininghaus, Eva, Rouleau, Guy A., Rybakowski, Janusz K., Schalling, Martin, Schofield, Peter R., Schweizer, Barbara W., Severino, Giovanni, Shilling, Paul D., Shimoda, Katzutaka, Simhandl, Christian, Slaney, Claire M., Squassina, Alessio, Stamm, Thomas, Stopkova, Pavla, Maj, Mario, Turecki, Gustavo, Vieta, Eduard, Veeh, Julia, Witt, Stephanie H., Wright, Adam, Zandi, Peter P., Mitchell, Philip B., Bauer, Michael, Alda, Martin, Rietschel, Marcella, McMahon, Francis J., Schulze, Thomas G., Clark, Scott R., and Baune, Bernhard T.

Published
2023
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42. Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study

Author

Anna H. Ou, Sara B. Rosenthal, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Martin Alda, Azmeraw T. Amare, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Michael Bauer, Bernhard T. Baune, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M. Biernacka, Pablo Cervantes, Guo-Bo Chen, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Francesc Colom, David A. Cousins, Cristiana Cruceanu, Piotr M. Czerski, Clarissa R. Dantas, Alexandre Dayer, Maria Del Zompo, Franziska Degenhardt, J. Raymond DePaulo, Bruno Étain, Peter Falkai, Frederike Tabea Fellendorf, Ewa Ferensztajn-Rochowiak, Andreas J. Forstner, Louise Frisén, Mark A. Frye, Janice M. Fullerton, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Oliver Gruber, Ryota Hashimoto, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Andrea Hofmann, Liping Hou, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, Sarah Kittel-Schneider, Barbara König, Po-Hsiu Kuo, Ichiro Kusumi, Nina Lackner, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Carlos A. López Jaramillo, Glenda MacQueen, Mario Maj, Mirko Manchia, Cynthia Marie-Claire, Lina Martinsson, Manuel Mattheisen, Michael J. McCarthy, Susan L. McElroy, Francis J. McMahon, Philip B. Mitchell, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Markus M. Nöthen, Tomas Novák, Urban Ösby, Norio Ozaki, Sergi Papiol, Roy H. Perlis, Claudia Pisanu, James B. Potash, Andrea Pfennig, Daniela Reich-Erkelenz, Andreas Reif, Eva Z. Reininghaus, Marcella Rietschel, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, K. Oliver Schubert, Thomas G. Schulze, Barbara W. Schweizer, Florian Seemüller, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Kazutaka Shimoda, Christian Simhandl, Claire M. Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Sarah K. Tighe, Alfonso Tortorella, Gustavo Turecki, Eduard Vieta, Julia Volkert, Stephanie Witt, Naomi R. Wray, Adam Wright, L. Trevor Young, Peter P. Zandi, and John R. Kelsoe

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium. In this study, we replicated the results of our previous study using network propagation methods in a genome-wide association study of an independent sample of 2039 patients from the International Consortium on Lithium Genetics (ConLiGen) study. We identified functional enrichment in focal adhesion and PI3K-Akt pathways, but we did not find an association with the ECM pathway. Our results suggest that deficits in the neuronal growth cone and PI3K-Akt signaling, but not in ECM proteins, may influence response to lithium in BD.

Published
2024
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43. Striatal dopamine neurotransmission is altered in age- and region-specific manner in a Parkinson’s disease transgenic mouse

Author

Jose Medina-Luque, Patrick Piechocinski, Paul Feyen, Carmelo Sgobio, and Jochen Herms

Subjects
Medicine, Science
Abstract

Abstract Dopamine (DA) plays a critical role in striatal motor control. The drop in DA level within the dorsal striatum is directly associated with the appearance of motor symptoms in Parkinson’s disease (PD). The progression of the disease and inherent disruption of the DA neurotransmission has been closely related to accumulation of the synaptic protein α-synuclein. However, it is still unclear how α-synuclein affects dopaminergic terminals in different areas of dorsal striatum. Here we demonstrate that the overexpression of human α-synuclein (h-α-syn) interferes with the striatal DA neurotransmission in an age‐dependent manner, preferentially in the dorsolateral striatum (DLS) of PDGF-h-α-syn mice. While 3-month-old mice showed an increase at the onset of h-α-syn accumulation in the DLS, 12-month-old mice revealed a decrease in electrically-evoked DA release. The enhanced DA release in 3-month-old mice coincided with better performance in a behavioural task. Notably, DA amplitude alterations were also accompanied by a delay in the DA clearance independently from the animal age. Structurally, dopamine transporter (DAT) was found to be redistributed in larger DAT-positive clumps only in the DLS of 3- and 12-month-old mice. Together, our data provide new insight into the vulnerability of DLS and suggest DAT-related dysfunctionalities from the very early stages of h-α-syn accumulation.

Published
2024
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44. Generation of induced pluripotent stem cells from ADHD patients who do or do not respond to Methylphenidate treatment

Author

Cristine Marie Yde Ohki, Natalie Monet Walter, Michelle Rickli, Cedric Iseli, Anna Maria Werling, Christian Döring, Belén Rubio, Per Hoffmann, Stefan Herms, Susanne Walitza, and Edna Grünblatt

Subjects
Biology (General), QH301-705.5
Abstract

As a neurodevelopmental multifactorial disorder whose prevalence has been increasing worldwide, attention-deficit hyperactivity disorder (ADHD) is considered a public health concern. Methylphenidate (MPH) is the drug of choice for ADHD; however, not all patients respond fully to this treatment. Therefore, exploring the underlying molecular mechanisms involved in ADHD and potential novel therapeutic targets is crucial. Here, we generated induced pluripotent stem cells (iPSCs) from Peripheral Blood Mononuclear Cells (PBMCs) retrieved from four ADHD patients (two MPH responders and two non-responders) using Sendai virus. These lines might be helpful for the in vitro investigation of ADHD pathophysiology in a patient-specific manner.

Published
2024
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45. Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.

Author

Hopfner, Franziska, Tietz, Anja, Ruf, Viktoria, Ross, Owen, Koga, Shunsuke, Dickson, Dennis, Aguzzi, Adriano, Attems, Johannes, Beach, Thomas, Beller, Allison, Cheshire, William, van Deerlin, Vivianna, Deuschl, Günther, Duyckaerts, Charles, Ellinghaus, David, Evsyukov, Valentin, Flanagan, Margaret, Franke, Andre, Frosch, Matthew, Gearing, Marla, Gelpi, Ellen, van Gerpen, Jay, Ghetti, Bernardino, Glass, Jonathan, Halliday, Glenda, Helbig, Ingo, Höllerhage, Matthias, Huitinga, Inge, Irwin, David, Keene, Dirk, Kovacs, Gabor, Lee, Edward, Levin, Johannes, Martí, Maria, Mackenzie, Ian, McKeith, Ian, Mclean, Catriona, Mollenhauer, Brit, Neumann, Manuela, Newell, Kathy, Pantelyat, Alex, Pendziwiat, Manuela, Peters, Annette, Molina Porcel, Laura, Rabano, Alberto, Matěj, Radoslav, Rajput, Alex, Rajput, Ali, Reimann, Regina, Scott, William, Selvackadunco, Sashika, Simuni, Tanya, Stadelmann, Christine, Svenningsson, Per, Thomas, Alan, Trenkwalder, Claudia, Troakes, Claire, Trojanowski, John, Uitti, Ryan, White, Charles, Wszolek, Zbigniew, Xie, Tao, Ximelis, Teresa, Yebenes, Justo, Müller, Ulrich, Schellenberg, Gerard, Herms, Jochen, Kuhlenbäumer, Gregor, Höglinger, Günter, Grinberg, Lea, Seeley, William, and Desplats, Paula

Subjects
ZIC1, ZIC4, autopsy-confirmed, genome-wide association study, multiple system atrophy, Autoantibodies, Autopsy, Genome-Wide Association Study, Humans, Multiple System Atrophy, Nerve Tissue Proteins, Olivopontocerebellar Atrophies, Striatonigral Degeneration, Transcription Factors, alpha-Synuclein
Abstract

BACKGROUND: Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome-wide association study in mainly clinically diagnosed patients with Multiple System Atrophy failed to identify genetic variants predisposing for the disease. OBJECTIVE: Since the clinical diagnosis of Multiple System Atrophy yields a high rate of misdiagnosis when compared to the neuropathological gold standard, we studied only autopsy-confirmed cases. METHODS: We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898). RESULTS: The most strongly disease-associated markers were rs16859966 on chromosome 3, rs7013955 on chromosome 8, and rs116607983 on chromosome 4 with P-values below 5 × 10-6 , all of which were supported by at least one additional genotyped and several imputed single nucleotide polymorphisms. The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4). INTERPRETATION: Since mutations of ZIC1 and ZIC4 and paraneoplastic autoantibodies directed against ZIC4 are associated with severe cerebellar dysfunction, we conducted immunohistochemical analyses in brain tissue of the frontal cortex and the cerebellum from 24 Multiple System Atrophy patients. Strong immunohistochemical expression of ZIC4 was detected in a subset of neurons of the dentate nucleus in all healthy controls and in patients with striatonigral degeneration, whereas ZIC4-immunoreactive neurons were significantly reduced inpatients with olivopontocerebellar atrophy. These findings point to a potential ZIC4-mediated vulnerability of neurons in Multiple System Atrophy. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

46. Common Genetic Variation and Age of Onset of Anorexia Nervosa.

Author

Watson, Hunna J, Thornton, Laura M, Yilmaz, Zeynep, Baker, Jessica H, Coleman, Jonathan RI, Adan, Roger AH, Alfredsson, Lars, Andreassen, Ole A, Ask, Helga, Berrettini, Wade H, Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I, Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien JH, Keel, Pamela K, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S, and Monteleone, Alessio Maria

Subjects
Age of onset, Anorexia nervosa, Early-onset, GWAS, Genetic risk score, Genetics, Menarche, Mendelian randomization, Puberty, Mental Health, Human Genome, Eating Disorders, Anorexia, Brain Disorders, Pediatric, Prevention, Aetiology, 2.1 Biological and endogenous factors
Abstract

BackgroundGenetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.MethodsA secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (

Published
2022

48. The European Voice of the Patient living with pulmonary hypertension associated with interstitial lung disease: Diagnosis, symptoms, impacts, and treatments

Author

Lucilla Piccari, Gabor Kovacs, Steve Jones, Hall Skaara, Claudia Roca Herms, Gabriela Silvina Bacchini Jeanneret, Melquiades Calzado Vinardell, Nuria Gonzalez‐Rojas Guix, Miriam Fernandez Delgado, Héctor Gálvez García, and David Schwicker

Subjects
health‐related quality of life, interstitial lung disease, patient experience data, patient‐involvement, pulmonary hypertension, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779
Abstract

Abstract Pulmonary hypertension (PH) adds a substantial disease burden, including higher mortality, when associated with interstitial lung disease (ILD), a severe, chronic, progressive condition. Yet little is known of the lived experiences, perspectives, priorities, and viewpoints of patients and carers living with PH‐ILD. The Voice of the Patient meeting at the center of this qualitative research study aims to provide these difficult‐to‐obtain insights from a European perspective for the first time. The multistakeholder approach brought together four PH‐ILD patients, three primary caregivers, two patient associations, clinical experts, sponsor representatives, and a facilitator. Of the six major themes identified in the thematic analysis, symptoms, and physical limitations were the most impactful. Shortness of breath was the most bothersome symptom affecting patients daily. Further symptoms included fatigue, cough, dizziness, syncope, edema, and palpitations. Physical limitations focused on reduced mobility, impacting patients’ ability to perform daily tasks, hobbies, sports, and to enjoy travel. Existing antifibrotic and pulmonary arterial hypertension‐targeted treatments were perceived as beneficial. However, despite advances in treatment, severe disease burdens and high unmet medical needs persist from the perspectives of patients. Most meaningful to patients’ daily wellbeing was supplemental oxygen, enabling greater mobility. Patients and carers reported difficulties and barriers in navigating the healthcare system and obtaining adequate information to reduce their considerable uncertainties, documenting the substantial challenges that rare and complex conditions such as PH‐ILD pose for routine clinical practice beyond PH expert centers and indicating an urgent need for high‐quality patient‐ and clinician‐directed information to support patient‐centered care.

Published
2024
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49. Minimal realization of light thermal Dark Matter

Author

Herms, Johannes, Jana, Sudip, K., Vishnu P., and Saad, Shaikh

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment
Abstract

We propose a minimal UV-complete model for kinematically forbidden Dark Matter (DM) leading to a sub-GeV thermal relic. Our crucial realization is that the two-Higgs-doublet model can provide a light mediator through which the DM can annihilate into SM leptons, avoiding indirect detection constraints. The DM mass is predicted to be very close to the mass of the leptons, which can potentially be identified from DM annihilation into gamma-rays. Due to sizable couplings to muons in reproducing the DM relic abundance, this framework naturally favors a resolution to the $(g-2)_\mu$ anomaly. Furthermore, by embedding this setup to the Zee model, we show that the phenomenon of neutrino oscillations is inherently connected to the observed relic abundance of DM. All new physics involved in our framework lies at or below the electroweak scale, making it testable at upcoming colliders, beam-dump experiments, and future sub-GeV gamma-ray telescopes., Comment: 6 pages, 2 appendices + references, 2 figures

Published
2022
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50. Reevaluation of the cosmic antideuteron flux from cosmic-ray interactions and from exotic sources

Author

Šerkšnytė, Laura, Königstorfer, Stephan, von Doetinchem, Philip, Fabbietti, Laura, Gomez-Coral, Diego Mauricio, Herms, Johannes, Ibarra, Alejandro, Pöschl, Thomas, Shukla, Anirvan, Strong, Andrew, and Vorobyev, Ivan

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

Cosmic-ray antideuterons could be a key for the discovery of exotic phenomena in our Galaxy, such as dark-matter annihilations or primordial black hole evaporation. Unfortunately the theoretical predictions of the antideuteron flux at Earth are plagued with uncertainties from the mechanism of antideuteron production and propagation in the Galaxy. We present the most up-to-date calculation of the antideuteron fluxes from cosmic-ray collisions with the interstellar medium and from exotic processes. We include for the first time the antideuteron inelastic interaction cross section recently measured by the ALICE collaboration to account for the loss of antideuterons during propagation. In order to bracket the uncertainty in the expected fluxes, we consider several state-of-the-art models of antideuteron production and of cosmic-ray propagation.

Published
2022
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