Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Gökhan Yigit"'
Autor:
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by som
Externí odkaz:
https://doaj.org/article/ceff460c817f43bdbaa50221fb814e9a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101022- (2023)
Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical presentation, and
Externí odkaz:
https://doaj.org/article/f8e03801319a4d1b9636debaa18933b6
Autor:
Orr Shomroni, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig, Gökhan Yigit, Laura Cecilia Zelarayan, Katrin Streckfuss-Bömeke, Bernd Wollnik, Gabriela Salinas
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the basis of human diseases. The cardinal feature to access this information is the technology used for single-cel
Externí odkaz:
https://doaj.org/article/718a794a31d34de3b3335bcd025ec31d
Autor:
Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
STAG2 is a component of the large, evolutionarily highly conserved cohesin complex, which has been linked to various cellular processes like genome organization, DNA replication, gene expression, heterochromatin formation, sister chromatid cohesion,
Externí odkaz:
https://doaj.org/article/b89df7894dff44b6aab7fe91af30ea86
Autor:
Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J. Kaiser, Erwan Watrin, Han Brunner, Alvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a cl
Externí odkaz:
https://doaj.org/article/3a21a85edc97413aa5f192b307a93267
Autor:
Luisa Averdunk, Khalid Al‐Thihli, Harald Surowy, Hermann‐Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al‐Maawali, Dagmar Wieczorek
Publikováno v:
Clinical Genetics. 103:484-491
Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl-tRNA to the ribosome, while the eEF1B c
Autor:
Claudia Koch, Andra Kuske, Simon A Joosse, Gökhan Yigit, George Sflomos, Sonja Thaler, Daniel J Smit, Stefan Werner, Kerstin Borgmann, Sebastian Gärtner, Parinaz Mossahebi Mohammadi, Laura Battista, Laure Cayrefourcq, Janine Altmüller, Gabriela Salinas‐Riester, Kaamini Raithatha, Arne Zibat, Yvonne Goy, Leonie Ott, Kai Bartkowiak, Tuan Zea Tan, Qing Zhou, Michael R Speicher, Volkmar Müller, Tobias M Gorges, Manfred Jücker, Jean‐Paul Thiery, Cathrin Brisken, Sabine Riethdorf, Catherine Alix‐Panabières, Klaus Pantel
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)
Abstract Functional studies giving insight into the biology of circulating tumor cells (CTCs) remain scarce due to the low frequency of CTCs and lack of appropriate models. Here, we describe the characterization of a novel CTC‐derived breast cancer
Externí odkaz:
https://doaj.org/article/6fcb45740e9c4955a376a11179160a9e
Autor:
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit
Publikováno v:
Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, G S, Shukla, A, Altmüller, J, Nürnberg, P, Banka, S, Girisha, K M, Li, Y, Wollnik, B & Yigit, G 2023, ' Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly ', Human Genetics . https://doi.org/10.1007/s00439-023-02528-2
Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f859d66c370c94ef7a8b3c7caccd2bb
https://research.manchester.ac.uk/en/publications/ab156f9e-c48a-4dde-852a-fd81058f5e49
https://research.manchester.ac.uk/en/publications/ab156f9e-c48a-4dde-852a-fd81058f5e49
Autor:
Yun Li, Janine Altmüller, Nina Bögershausen, Gökhan Yigit, Shahida Moosa, Peter Nürnberg, Bernd Wollnik, Farida Chentli
Publikováno v:
American Journal of Medical Genetics Part A. 188:606-612
Short stature is one of the most common reasons for a referral to the pediatric endocrinology clinic. Thousands of patients with short stature are assessed annually at the Department of Endocrine and Metabolic Diseases (DEMD) at Bab el Oued Universit
Autor:
Gökhan Yigit, Bernd Wollnik
Publikováno v:
Medizinische Genetik. 33:235-243
Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous cardiac disease that is mainly characterized by left ventricular hypertrophy in the absence of any additional cardiac or systemic disease. HCM is genetically heterogeneous, inherited mai