Yazar "Kaplan, Oktay İsmail" için listeleme
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ConVarT: A search engine for matching human genetic variants with variants from non-human species
Pir, Mustafa; Bilgin, Halil I.; Sayıcı, Ahmet; Coşkun, Fatih; Torun, Furkan M; Zhao, Pei; Kang, Yahong; Çevik, Sebiha; Kaplan, Oktay İsmail (Oxford University Press, 2022)The availability of genetic variants, together with phenotypic annotations from model organisms, facilitates comparing these variants with equivalent variants in humans. However, existing databases and search tools do not ... -
Investigating the Impact of Birt–Hogg–Dubé Syndrome Associated Folliculin (FLCN) and Retinitis Pigmentosa 2 (RP2) Loss on Cilia Function and Morphology
Kaplan, Oktay İsmail (Cumhuriyet Üniversitesi, 2024)Folliculin (FLCN), a GTPase-activating protein (GAP), has been linked to Birt–Hogg–Dubé syndrome, the mTORC1 signaling pathway and cilia. Disruptions in cilia structure and function lead to a group of diseases known as ... -
RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans
Kaplan, Oktay İsmail (TUBİTAK, 2023)Projecting from most cell surfaces, cilia serve as important hubs for sensory and signaling processes and have been linked to a variety of human disorders, including Bardet-Biedl Syndrome (BBS), Meckel-Gruber Syndrome ... -
WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium
Cevik, Sebiha; Peng, Xiaoyu; Beyer, Tina; Pir, Mustafa Samet; Yenisert, Ferhan; Woerz, Franziska; Hoffmann, Felix; Altunkaynak, Betul; Pir, Betul; Boldt, Karsten; Karaman, Asli; Cakiroglu, Miray; Oner, S. Sadik; Cao, Ying; Ueffing, Marius; Kaplan, Oktay İsmail (LIFE SCIENCE ALLIANCE LLC, 2023)The correct intraflagellar transport (IFT) assembly at the ciliary base and the IFT turnaround at the ciliary tip are key for the IFT to perform its function, but we still have poor understanding about how these processes ...
