Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

Autor: Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic vari

Externí odkaz: https://doaj.org/article/795cb8b594b04d13b3f30e2a251abb26

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Autor: Bram P. Prins, Timothy J. Mead, Jennifer A. Brody, Gardar Sveinbjornsson, Ioanna Ntalla, Nathan A. Bihlmeyer, Marten van den Berg, Jette Bork-Jensen, Stefania Cappellani, Stefan Van Duijvenboden, Nikolai T. Klena, George C. Gabriel, Xiaoqin Liu, Cagri Gulec, Niels Grarup, Jeffrey Haessler, Leanne M. Hall, Annamaria Iorio, Aaron Isaacs, Ruifang Li-Gao, Honghuang Lin, Ching-Ti Liu, Leo-Pekka Lyytikäinen, Jonathan Marten, Hao Mei, Martina Müller-Nurasyid, Michele Orini, Sandosh Padmanabhan, Farid Radmanesh, Julia Ramirez, Antonietta Robino, Molly Schwartz, Jessica van Setten, Albert V. Smith, Niek Verweij, Helen R. Warren, Stefan Weiss, Alvaro Alonso, David O. Arnar, Michiel L. Bots, Rudolf A. de Boer, Anna F. Dominiczak, Mark Eijgelsheim, Patrick T. Ellinor, Xiuqing Guo, Stephan B. Felix, Tamara B. Harris, Caroline Hayward, Susan R. Heckbert, Paul L. Huang, J. W. Jukema, Mika Kähönen, Jan A. Kors, Pier D. Lambiase, Lenore J. Launer, Man Li, Allan Linneberg, Christopher P. Nelson, Oluf Pedersen, Marco Perez, Annette Peters, Ozren Polasek, Bruce M. Psaty, Olli T. Raitakari, Kenneth M. Rice, Jerome I. Rotter, Moritz F. Sinner, Elsayed Z. Soliman, Tim D. Spector, Konstantin Strauch, Unnur Thorsteinsdottir, Andrew Tinker, Stella Trompet, André Uitterlinden, Ilonca Vaartjes, Peter van der Meer, Uwe Völker, Henry Völzke, Melanie Waldenberger, James G. Wilson, Zhijun Xie, Folkert W. Asselbergs, Marcus Dörr, Cornelia M. van Duijn, Paolo Gasparini, Daniel F. Gudbjartsson, Vilmundur Gudnason, Torben Hansen, Stefan Kääb, Jørgen K. Kanters, Charles Kooperberg, Terho Lehtimäki, Henry J. Lin, Steven A. Lubitz, Dennis O. Mook-Kanamori, Francesco J. Conti, Christopher H. Newton-Cheh, Jonathan Rosand, Igor Rudan, Nilesh J. Samani, Gianfranco Sinagra, Blair H. Smith, Hilma Holm, Bruno H. Stricker, Sheila Ulivi, Nona Sotoodehnia, Suneel S. Apte, Pim van der Harst, Kari Stefansson, Patricia B. Munroe, Dan E. Arking, Cecilia W. Lo, Yalda Jamshidi

Publikováno v: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

Abstract Background Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the varia

Externí odkaz: https://doaj.org/article/90c79bdbde864108a63e5a86f193c9b6

The frequency and fitness of m6A-associated variants may be modulated by thermodynamic stability of the overlapping G-quadruplex

Autor: Cagri Gulec

Background: Post-transcriptional modifications like m6A, and secondary structures like G-quadruplex (G4), play an important role in RNA processing. Despite an emerging number of studies focusing on m6A and G4 separately, there are less studies about

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0f9695e81122259285277fde25cbffc2
https://doi.org/10.21203/rs.3.rs-1737671/v1

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease

Autor: Gamze, Guven, Bedia, Samanci, Cagri, Gulec, Hasmet, Hanagasi, Hakan, Gurvit, Ebru Erzurumluoglu, Gokalp, Fatih, Tepgec, Suleyman, Guler, Oya, Uyguner, Basar, Bilgic

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(6)

Alzheimer's disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in "Presenilin 1" (PSEN1), "Presenilin 2" (PSEN2), and "Amyloid precursor protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5b7270f4b5ccce0df66cee77a4db223b
https://pubmed.ncbi.nlm.nih.gov/33855622

In Vitro investigation of insulin-like growth factor-i and mechano-growth factor on proliferation of neural stem cells in high glucose environment

Autor: Tugba Aydintug Gurbuz, Çağri Güleç, Fatih Toprak, Selin Fulya Toprak, Selcuk Sozer

Publikováno v: Neurological Sciences and Neurophysiology, Vol 40, Iss 1, Pp 27-36 (2023)

Objective: High glucose levels cause metabolic and vascular complications by affecting the nervous system with an increased risk of stroke and seizures. There are still no effective treatment modalities for the high morbidity and mortality rates dete

Externí odkaz: https://doaj.org/article/b9a99cf5c39342abb70d5c526407f3fa