Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jeshurun C Kalanithy"'
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:
Sophia Schneider, Ricarda Köllges, Jil D. Stegmann, Frederic Thieme, Alina C. Hilger, Lea Waffenschmidt, Julia Fazaal, Jeshurun C. Kalanithy, Annegret Geipel, Brigitte Strizek, Kerstin U. Ludwig, Heiko Reutter, Andreas Müller
Publikováno v:
American Journal of Medical Genetics Part A. 188:1607-1611
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b757fc81201bb8a25a8b47e75f97d89
https://doi.org/10.1002/ajmg.a.62643
https://doi.org/10.1002/ajmg.a.62643
Autor:
Changsheng Liu, Jeshurun C Kalanithy, Shiva Ahmadi, Alexander Harder, Dominic Winter, Öznur Yilmaz, T. Duman, Funda Turan, Ryan B. MacDonald, Tobias T. Lindenberg, Benjamin Odermatt, Lena Schünemann
Publikováno v:
Journal of Neuroscience Research. 99:2774-2792
Myelination is crucial for the development and maintenance of axonal integrity, especially fast axonal action potential conduction. There is increasing evidence that glutamate signaling and release through neuronal activity modulates the myelination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d06d55ba79e65615b54965fc38bd94
https://doi.org/10.1002/jnr.24940
https://doi.org/10.1002/jnr.24940
Autor:
Sophia, Schneider, Ricarda, Köllges, Jil D, Stegmann, Frederic, Thieme, Alina C, Hilger, Lea, Waffenschmidt, Julia, Fazaal, Jeshurun C, Kalanithy, Annegret, Geipel, Brigitte, Strizek, Kerstin U, Ludwig, Heiko, Reutter, Andreas, Müller
Publikováno v:
American journal of medical genetics. Part A. 188(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c40c15f02742d3466ac5a9867d10b415
https://pubmed.ncbi.nlm.nih.gov/34994518
https://pubmed.ncbi.nlm.nih.gov/34994518
Autor:
Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay
Publikováno v:
Genetics in Medicine
PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19
https://pubmed.ncbi.nlm.nih.gov/34054129
https://pubmed.ncbi.nlm.nih.gov/34054129
Autor:
Jeshurun C Kalanithy, Heiko Reutter, Oliver Münsterer, Katharina Kleine, Oliver Johannes Deffaa, Andreas Heydweiller, Beno Ure, Andreas Leutner, Alina C. Hilger, Stefanie Heilmann-Heimbach, Rong Zhang, Maria-Theodora Melissari, Nicole Spychalski, Ralf Kurz, Barbara Ludwikowski, Markus Pauly, Jörg Fuchs, Amit Kawalia, Jochen Hubertus, Eberhard Schmiedeke, Holger Thiele, Korbinian M. Riedhammer, Stefanie Märzheuser, Ferdinand Kosch, Jan Gehlen, Alice Hölscher, Ekkehart Jenetzky, Amit Sharma, Johannes Leonhardt, Julia Fabian, Michael Ludwig, Athira M. Menon, Guido Seitz, Barbara Gomez, Tikam Chand Dakal, Mattias Schäfer, Julia Höfele, Jan-Hendrik Gosemann, Johannes Schumacher, Lea Waffenschmidt, Nadine Zwink, Jörg Neser, Thomas M. Boemers, Phillip Grote, Martin Lacher, Petra Degenhardt, Stefan Holland-Cunz, Katinka Breuer
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0234246 (2020)
PLoS ONE
PLoS ONE
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee5c98f50d324dc8019d0c8ba287fc98
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54935
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54935
