Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Elisabeth Mangold"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Non-syndromic cleft lip with/without cleft palate (nsCL/P) is one of the most common birth defects and has a multifactorial etiology. To date, over 45 loci harboring common risk variants have been identified. However, the effector genes at t
Externí odkaz:
https://doaj.org/article/bea85db0716543f6b61fd3d3a9b82efe
Autor:
Anna Siewert, Benedikt Reiz, Carina Krug, Julia Heggemann, Elisabeth Mangold, Henning Dickten, Kerstin U. Ludwig
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Cleft lip ± cleft palate (CL/P) is one of the most common birth defects. Although research has identified multiple genetic risk loci for different types of CL/P (i.e., syndromic or non-syndromic forms), determining the respective causa
Externí odkaz:
https://doaj.org/article/db6a70600b9b41a1a8f76197b2f7d9ee
Autor:
Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L. Mehrem, Ariane C. Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada‐Iglesias, Michaela Bartusel, Augusto Rojas‐Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M. Nöthen, Michael Nothnagel, Tim Becker, Kerstin U. Ludwig, Elisabeth Mangold
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability
Externí odkaz:
https://doaj.org/article/205be1f83d914d678ac7257527a61a58
Autor:
Katharina L. M. Ruff, Ronja Hollstein, Julia Fazaal, Frederic Thieme, Jan Gehlen, Elisabeth Mangold, Michael Knapp, Julia Welzenbach, Kerstin U. Ludwig
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a frequent congenital malformation with multifactorial etiology. While recent genome-wide association studies (GWAS) have identified several nsCL/P risk loci, the functional effec
Externí odkaz:
https://doaj.org/article/154cf794fabb40c193bd2bd85e9d0ed4
Autor:
Hanna K. Zieger, Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan A. Juranek, Anna Siewert, Annika B. Scheer, Frederic Thieme, Elisabeth Mangold, Nina Ishorst, Fabian U. Brand, Julia Welzenbach, Dieter Beule, Katrin Paeschke, Peter M. Krawitz, Kerstin U. Ludwig
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100166- (2023)
Summary: Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are sparse. Here, we re-analyz
Externí odkaz:
https://doaj.org/article/b61b5dc4116e41ea98f08ed8d964fc18
Autor:
Robin A. Pilz, Dariush Skowronek, Motaz Hamed, Anja Weise, Elisabeth Mangold, Alexander Radbruch, Torsten Pietsch, Ute Felbor, Matthias Rath
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or CCM3 gene are associated with the autosomal dominant form of the disease.
Externí odkaz:
https://doaj.org/article/d6dc71592f62442ab581a55813dbcf9d
Autor:
Carina M. Mathey, Carlo Maj, Annika B. Scheer, Julia Fazaal, Bettina Wedi, Dorothea Wieczorek, Philipp M. Amann, Harald Löffler, Lukas Koch, Clemens Schöffl, Heinrich Dickel, Nomun Ganjuur, Thorsten Hornung, Susann Forkel, Jens Greve, Gerda Wurpts, Pär Hallberg, Anette Bygum, Christian Von Buchwald, Malgorzata Karawajczyk, Michael Steffens, Julia Stingl, Per Hoffmann, Stefanie Heilmann-Heimbach, Elisabeth Mangold, Kerstin U. Ludwig, Eva R. Rasmussen, Mia Wadelius, Bernhardt Sachs, Markus M. Nöthen, Andreas J. Forstner
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Angioedema is a relatively rare but potentially life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). As with hereditary forms of angioedema (HAE), this adverse reaction is medi
Externí odkaz:
https://doaj.org/article/53c1fc2de9ec4b5785fd532dfea52c59
Autor:
Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)
Summary: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/
Externí odkaz:
https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1
Autor:
Julia Welzenbach, Nigel L. Hammond, Miloš Nikolić, Frederic Thieme, Nina Ishorst, Elizabeth J. Leslie, Seth M. Weinberg, Terri H. Beaty, Mary L. Marazita, Elisabeth Mangold, Michael Knapp, Justin Cotney, Alvaro Rada-Iglesias, Michael J. Dixon, Kerstin U. Ludwig
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100038- (2021)
Summary: Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital facial malformation with a multifactorial etiology. Genome-wide association studies (GWASs) have identified multiple genetic risk loci. However, functional
Externí odkaz:
https://doaj.org/article/0c7e6a95d02a4a9283abd9285a586203
Autor:
Yanqin Yu, Xianbo Zuo, Miao He, Jinping Gao, Yuchuan Fu, Chuanqi Qin, Liuyan Meng, Wenjun Wang, Yaling Song, Yong Cheng, Fusheng Zhou, Gang Chen, Xiaodong Zheng, Xinhuan Wang, Bo Liang, Zhengwei Zhu, Xiazhou Fu, Yujun Sheng, Jiebing Hao, Zhongyin Liu, Hansong Yan, Elisabeth Mangold, Ingo Ruczinski, Jianjun Liu, Mary L. Marazita, Kerstin U. Ludwig, Terri H. Beaty, Xuejun Zhang, Liangdan Sun, Zhuan Bian
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Non-syndromic cleft lip with palate is a common birth defect of unknown aetiology. Here, the authors discover 14 new genes associated with this condition, and show genetic heterogeneity in this and other non-syndromic orofacial clefting disorders.
Externí odkaz:
https://doaj.org/article/eb3cc88ed3544cb0a271da03bc6183c3