Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Andreas Tzschach"'
Autor:
Juliane Sachsenweger, Rebecca Jansche, Tatjana Merk, Benedikt Heitmeir, Miriam Deniz, Ulrike Faust, Cristiana Roggia, Andreas Tzschach, Christopher Schroeder, Angelika Riess, Helmut Pospiech, Hellevi Peltoketo, Katri Pylkäs, Robert Winqvist, Lisa Wiesmüller
Publikováno v:
Cell Death and Disease, Vol 14, Iss 5, Pp 1-15 (2023)
Abstract It has been well-established that mutations in BRCA1 and BRCA2, compromising functions in DNA double-strand break repair (DSBR), confer hereditary breast and ovarian cancer risk. Importantly, mutations in these genes explain only a minor fra
Externí odkaz:
https://doaj.org/article/22359356d9db4cbc807bfe4a73796d52
Autor:
Kimon Runge, Marco Reisert, Bernd Feige, Kathrin Nickel, Horst Urbach, Nils Venhoff, Andreas Tzschach, Miriam A. Schiele, Luciana Hannibal, Harald Prüss, Katharina Domschke, Ludger Tebartz van Elst, Dominique Endres
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-18 (2023)
Abstract In the revised diagnostic classification systems ICD-11 and DSM-5, secondary, organic forms of obsessive-compulsive disorder (OCD) are implemented as specific nosological entities. Therefore, the aim of this study was to clarify whether a co
Externí odkaz:
https://doaj.org/article/f04192f1dd014af5be226e33cfe6f5d5
Autor:
Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1319-1326 (2019)
Abstract A recurrent de novo missense variant in KCNC1, encoding a voltage‐gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability.
Externí odkaz:
https://doaj.org/article/6c5fac79b9f542b2975de3d0a57bfdce
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239959 (2020)
[This corrects the article DOI: 10.1371/journal.pone.0201041.].
Externí odkaz:
https://doaj.org/article/67aa0983cabd4e0a8b95788e0c4e8afb
Autor:
Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
Publikováno v:
Genes, Vol 12, Iss 11, p 1836 (2021)
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one case so fa
Externí odkaz:
https://doaj.org/article/420d3776f61b410daa13a92f8140dc7b
Autor:
Luise D. Resch, Alrun Hotz, Andreas D. Zimmer, Katalin Komlosi, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer, Svenja Alter
Publikováno v:
Genes, Vol 12, Iss 10, p 1483 (2021)
In about 20–30% of all women with breast cancer, an increased number of cases of breast cancer can be observed in their family history. However, currently, only 5–10% of all breast cancer cases can be attributed to a pathogenic gene alteration. M
Externí odkaz:
https://doaj.org/article/f759adc7a25b4f2ba37d901edfe2c131
Autor:
Rouven Hoefflin, Adriana Lazarou, Maria Elena Hess, Meike Reiser, Julius Wehrle, Patrick Metzger, Anna Verena Frey, Heiko Becker, Konrad Aumann, Kai Berner, Martin Boeker, Nico Buettner, Christine Dierks, Jesus Duque-Afonso, Michel Eisenblaetter, Thalia Erbes, Ralph Fritsch, Isabell Xiang Ge, Anna-Lena Geißler, Markus Grabbert, Steffen Heeg, Dieter Henrik Heiland, Simone Hettmer, Gian Kayser, Alexander Keller, Anita Kleiber, Alexandra Kutilina, Leman Mehmed, Frank Meiss, Philipp Poxleitner, Justyna Rawluk, Juri Ruf, Henning Schäfer, Florian Scherer, Khalid Shoumariyeh, Andreas Tzschach, Christoph Peters, Tilman Brummer, Martin Werner, Justus Duyster, Silke Lassmann, Cornelius Miething, Melanie Boerries, Anna L. Illert, Nikolas von Bubnoff
Publikováno v:
Cancers, Vol 13, Iss 5, p 1151 (2021)
Molecular precision oncology faces two major challenges: first, to identify relevant and actionable molecular variants in a rapidly changing field and second, to provide access to a broad patient population. Here, we report a four-year experience of
Externí odkaz:
https://doaj.org/article/bc5cb67dc3ba4ca981309ebc3f821777
Autor:
Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 22, p 8611 (2020)
Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric manif
Externí odkaz:
https://doaj.org/article/4f8ca8ca72b74bcca7b20999c5e2ceeb
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201041 (2018)
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a par
Externí odkaz:
https://doaj.org/article/4a93d15dae9a40be9bf34e6c0eeb5248
Autor:
Sahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, M Mahdi Motazacker, Bonnie Nijhof, Anna Castells-Nobau, Zoltan Asztalos, Robert Weißmann, Farkhondeh Behjati, Andreas Tzschach, Ute Felbor, Harry Scherthan, Seyed Morteza Sayfati, H Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Jason R Swedlow, Annette Schenck, Andreas W Kuss
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1006022 (2016)
Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or pro
Externí odkaz:
https://doaj.org/article/fdc77123695841afb9a2e0657546489b