Yazar "0000-0002-8733-0920" için WoS İndeksli Yayınlar Koleksiyonu listeleme
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CiliaMiner: an integrated database for ciliopathy genes and ciliopathies
Turan, Merve Gül; Orhan, Mehmet Emin; Cevik, Sebiha; Kaptan, Oktay I. (OXFORD UNIV PRESS, 2023)Cilia are found in eukaryotic species ranging from single-celled organisms, such as Chlamydomonas reinhardtii, to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation ... -
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 ... -
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 ... -
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 ...