Yazar "Pir, Mustafa Samet" için listeleme
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CilioGenics: an integrated method and database for predicting novel ciliary genes
Pir, Mustafa Samet; Begar, Efe; Yenisert, Ferhan; Demirci, Hasan C.; Korkmaz, Mustafa E.; Karaman, Asli; Tsiropoulou, Sofia; Firat-Karalar, Elif Nur; Blacque, Oliver E.; Oner, Sukru S.; Doluca, Osman; Cevik, Sebiha; Kaplan, Oktay Ismail (Oxford University Press, 2024)Uncovering the full list of human ciliary genes holds enormous promise for the diagnosis of cilia-related human diseases, collectively known as ciliopathies. Currently, genetic diagnoses of many ciliopathies remain incomplete ... -
Matching variants for functional characterization of genetic variants
Cevik-Kaplan, Sebiha; Zhao, Pei; Zorluer, Atiyye; Pir, Mustafa Samet; Bian, Wenyin (Genetics Society of America, 2023)Rapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis ... -
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 ...
