Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Authors: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

Transition for adolescents with a rare disease: results of a nationwide German project

Authors: Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Subject Terms: Transition, Rare disease, Pathway, Empowerment, Health literacy, Adolescent health, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374

Insulin-Like Growth Factor 1 Attenuates the Pro-Inflammatory Phenotype of Neutrophils in Myocardial Infarction

Authors: Rianne Nederlof, Sophia Reidel, André Spychala, Stefanie Gödecke, André Heinen, Tobias Lautwein, Patrick Petzsch, Karl Köhrer, Axel Gödecke

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: insulin-like growth factor 1, myocardial infarction, neutrophil, signaling, inflammation, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.908023/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/ddfa61368cbc44b1ba436e2e13f4bc20

The release of cardioprotective humoral factors after remote ischemic preconditioning in humans is age- and sex-dependent

Authors: André Heinen, Friederike Behmenburg, Aykut Aytulun, Maximilian Dierkes, Lea Zerbin, Wolfgang Kaisers, Maximilian Schaefer, Tanja Meyer-Treschan, Susanne Feit, Inge Bauer, Markus W. Hollmann, Ragnar Huhn

Source: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-11 (2018)

Subject Terms: Cardioprotection, Remote ischemic preconditioning, Age, Sex, Reperfusion injury, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1480-0; https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/c27bbfc48eba4ef5a072d10b36b40f24

Morphine-Induced Preconditioning: Involvement of Protein Kinase A and Mitochondrial Permeability Transition Pore.

Authors: Marianne Dorsch, Friederike Behmenburg, Miriam Raible, Dominic Blase, Hilbert Grievink, Markus W Hollmann, André Heinen, Ragnar Huhn

Source: PLoS ONE, Vol 11, Iss 3, p e0151025 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0151025&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/6ac70bccbdeb4ee687cfb0f370e618d6

Impact of Mitochondrial Ca2+-Sensitive Potassium (mBKCa) Channels in Sildenafil-Induced Cardioprotection in Rats.

Authors: Friederike Behmenburg, Marianne Dorsch, Ragnar Huhn, David Mally, André Heinen, Markus W Hollmann, Marc M Berger

Source: PLoS ONE, Vol 10, Iss 12, p e0144737 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0144737&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/bb44a6350e8b49e38e5ba66df8ed6029

Role of Endogenous Opioid System in Ischemic-Induced Late Preconditioning.

Authors: Jan Fraessdorf, Markus W Hollmann, Iris Hanschmann, André Heinen, Nina C Weber, Benedikt Preckel, Ragnar Huhn

Source: PLoS ONE, Vol 10, Iss 7, p e0134283 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4520665?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/14f07c05db624dc7a5bcfef7d770ddce

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