Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Rüstem Yilmaz"'
Autor:
Rüstem Yilmaz, Kanchi Weishaupt, Ivan Valkadinov, Antje Knehr, David Brenner, Jochen H. Weishaupt
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Objectives Due to upcoming gene‐specific therapy approaches for ALS patients, understanding familial and sporadic ALS genetics is becoming increasingly important. In this study, we wanted to investigate underlying genetic causes for an SAL
Externí odkaz:
https://doaj.org/article/7ce4ab10fa01405e968b69fb3cb924f7
Autor:
Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appea
Externí odkaz:
https://doaj.org/article/fe86d5ef727f4e498578b4720d4e5504
Autor:
Rasem Mustafa, Chahinaz Rawas, Nadja Mannal, Grzegorz Kreiner, Björn Spittau, Katarzyna Kamińska, Rüstem Yilmaz, Christina Pötschke, Joachim Kirsch, Birgit Liss, Kerry L. Tucker, Rosanna Parlato
Publikováno v:
Antioxidants, Vol 10, Iss 8, p 1284 (2021)
Primary cilia (PC) are microtubule-based protrusions of the cell membrane transducing molecular signals during brain development. Here, we report that PC are required for maintenance of Substantia nigra (SN) dopaminergic (DA) neurons highly vulnerabl
Externí odkaz:
https://doaj.org/article/d98629c1c86f4fd5804825c4701b9a09
Autor:
Cigdem Sancar, Nati Ha, Rüstem Yilmaz, Rafael Tesorero, Tamas Fisher, Michael Brunner, Gencer Sancar
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005105 (2015)
Light is an important environmental cue that affects physiology and development of Neurospora crassa. The light-sensing transcription factor (TF) WCC, which consists of the GATA-family TFs WC1 and WC2, is required for light-dependent transcription. S
Externí odkaz:
https://doaj.org/article/d9634c31dab949ac8eb16ed484f1a59e
Autor:
Fatma Hilal Yağin, Rüstem Yilmaz
Publikováno v:
Volume: 6, Issue: 2 51-54
The Journal of Cognitive Systems
The Journal of Cognitive Systems
— Aim: The aim of this study is to develop a predictive classification model that can identify risk factors for heart attack disease. Materials and Methods: In the study, patients with low and high probability of having a heart attack were examined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b444ed59b1fca09c1ccffac5c5d1f31
https://doi.org/10.52876/jcs.1001680
https://doi.org/10.52876/jcs.1001680
Autor:
Ibrahim Raya, Yasmin Douahem, David Brenner, Rüstem Yilmaz, Riccardo Cristofani, Angelo Poletti, Vittorio Maglione, Jochen Weishaupt, Rosanna Parlato
Publikováno v:
A: Pathogenic mechanisms.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c5bc674489e746532d8241dce0363fe
https://doi.org/10.1136/jnnp-2022-ehdn.36
https://doi.org/10.1136/jnnp-2022-ehdn.36
Autor:
Devesh C Pant, Janani Parameswaran, Lu Rao, Isabel Loss, Ganesh Chilukuri, Rosanna Parlato, Liang Shi, Jonathan D Glass, Gary J Bassell, Philipp Koch, Rüstem Yilmaz, Jochen H Weishaupt, Arne Gennerich, Jie Jiang
Publikováno v:
EMBO Rep
Mutations in the human kinesin family member 5A (KIF5A) gene were recently identified as a genetic cause of amyotrophic lateral sclerosis (ALS). Several KIF5A ALS variants cause exon 27 skipping and are predicted to produce motor proteins with an alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86947487ea42d276d27e40cfe76dd58
https://pubmed.ncbi.nlm.nih.gov/35735139
https://pubmed.ncbi.nlm.nih.gov/35735139
Autor:
Rachel Straussberg, Marta Rosário, Guntram Borck, Victor Tarabykin, Olaf Jahn, Stephen Horan, A Ioana Weber, Rüstem Yilmaz, Ekrem Dere, Alina Smorodchenko, Hong Jun Rhee, Jeong-Seop Rhee, Susanne Mueller, Katrin I. Willig, Philipp Boehm-Sturm, Manuela Schwark, Mateusz C. Ambrozkiewicz, Sami Zaqout, Ekaterina Borisova, Theres Schaub, Bekir Altas, Silvia Ripamonti, Hiroshi Kawabe, Lars Piepkorn
Publikováno v:
Molecular Psychiatry. 26:1980-1995
Kaufman oculocerebrofacial syndrome (KOS) is a severe autosomal recessive disorder characterized by intellectual disability, developmental delays, microcephaly, and characteristic dysmorphisms. Biallelic mutations of UBE3B, encoding for a ubiquitin l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36d6fb6e1cc9ce957bdec42b0152020
https://doi.org/10.1038/s41380-020-0714-8
https://doi.org/10.1038/s41380-020-0714-8
Autor:
Rüstem Yilmaz, Kathrin Muller, Axel Freischmidt, Jochen H. Weishaupt, Antje Knehr, Albert C. Ludolph, Peter M. Andersen, Serena Lattante, David A. Brenner
Publikováno v:
Neurogenetics
Mutations in FUS and TBK1 often cause aggressive early-onset amyotrophic lateral sclerosis (ALS) or a late-onset ALS and/or frontotemporal dementia (FTD) phenotype, respectively. Co-occurrence of mutations in two or more Mendelian ALS/FTD genes has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41a9dc7f49e8d4c069849ac5066d212
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-187747
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-187747
Autor:
Fatma Hilal Yağin, Rüstem Yilmaz
Publikováno v:
Volume: 4, Issue: 1 1-6
Medical Records
Medical Records
Aim: Heart disease detection using machine learning methods has been an outstanding research topic as heart diseases continue to be a burden on healthcare systems around the world. Therefore, in this study, the performances of machine learning method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78a5e05d810c611a8d7a4d4ca50e749a
https://dergipark.org.tr/tr/pub/medr/issue/67333/1011924
https://dergipark.org.tr/tr/pub/medr/issue/67333/1011924