Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Benjamin, Odermatt"'
Autor:
Enrico Mingardo, Jeshurun C. Kalanithy, Gabriel Dworschak, Nina Ishorst, Öznur Yilmaz, Tobias Lindenberg, Ronja Hollstein, Tim Felger, Pierre-Olivier Angrand, Heiko Reutter, Benjamin Odermatt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide a
Externí odkaz:
https://doaj.org/article/08a17c2b22034bc68e4a496f25207eee
Autor:
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
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Caroline M. Kolvenbach, Gabriel C. Dworschak, Johanna M. Rieke, Adrian S. Woolf, Heiko Reutter, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-7 (2023)
Abstract Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations. This has recently led to the identification of the first disease-
Externí odkaz:
https://doaj.org/article/dc620dcacdf24d3b958ada1a32327869
Autor:
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
Externí odkaz:
https://doaj.org/article/3185cad232344b7081367260f4859843
Autor:
Daniel Trnka, Anna D. Engelke, Manuela Gellert, Anna Moseler, Md Faruq Hossain, Tobias T. Lindenberg, Luca Pedroletti, Benjamin Odermatt, João V. de Souza, Agnieszka K. Bronowska, Tobias P. Dick, Uli Mühlenhoff, Andreas J. Meyer, Carsten Berndt, Christopher Horst Lillig
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Glutaredoxins are a family of essential enzymes divided into two major classes with either a CGFS or a CxxC active site, of which only the latter exhibits oxidoreductase activity. Here the authors address the structural basis for the functional diffe
Externí odkaz:
https://doaj.org/article/8fb263e3eb754914a52c1efef5e3202b
Autor:
Christina Wilms, Klaudia Lepka, Felix Häberlein, Steven Edwards, Jörg Felsberg, Linda Pudelko, Tobias T. Lindenberg, Gereon Poschmann, Nan Qin, Katrin Volbracht, Tim Prozorovski, Sven G. Meuth, Ulf D. Kahlert, Marc Remke, Orhan Aktas, Guido Reifenberger, Lars Bräutigam, Benjamin Odermatt, Carsten Berndt
Publikováno v:
Redox Biology, Vol 49, Iss , Pp 102221- (2022)
Redox regulation of specific cysteines via oxidoreductases of the thioredoxin family is increasingly being recognized as an important signaling pathway. Here, we demonstrate that the cytosolic isoform of the vertebrate-specific oxidoreductase Glutare
Externí odkaz:
https://doaj.org/article/2e1d65566877484caf8912ee69a75699
Autor:
Haruhisa Okawa, Wan-Qing Yu, Ulf Matti, Karin Schwarz, Benjamin Odermatt, Haining Zhong, Yoshihiko Tsukamoto, Leon Lagnado, Fred Rieke, Frank Schmitz, Rachel O. L. Wong
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Ribbon synapses in our sensory nervous system are central to hearing and sight, yet little is known about how these synapses are assembled and maintained during development. In this study, authors use live imaging techniques to monitor ribbon appeara
Externí odkaz:
https://doaj.org/article/fab6c0f6151e4201945361b7613c377a
Autor:
Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its
Externí odkaz:
https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc
Publikováno v:
Microscopy Research and Technique. 86:125-136
Light sheet fluorescence microscopy (LSFM) is an important tool in developmental biology. In this microscopy technique confocal line detection is often used to improve image contrast. To this end, the image of the illuminating scanned focused laser b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954e5ccdc8b4d9f933f33af81d43a3f1
https://doi.org/10.1002/jemt.24223
https://doi.org/10.1002/jemt.24223
Autor:
Wan-Qing Yu, Rana N. El-Danaf, Haruhisa Okawa, Justin M. Pacholec, Ulf Matti, Karin Schwarz, Benjamin Odermatt, Felice A. Dunn, Leon Lagnado, Frank Schmitz, Andrew D. Huberman, Rachel O.L. Wong
Publikováno v:
Cell Reports, Vol 25, Iss 8, Pp 2017-2026.e3 (2018)
Summary: Sensory processing can be tuned by a neuron’s integration area, the types of inputs, and the proportion and number of connections with those inputs. Integration areas often vary topographically to sample space differentially across regions
Externí odkaz:
https://doaj.org/article/15356c56a00f4722a7e7214eaea49561