Now showing items 1-4 of 4

    • Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ) 

      Doldur-Balli, F.; Ozel, M. N.; Gulsuner, S.; Tekinay, A. B.; Ozcelik, T.; Konu, O.; Adams, M. M. (BioMed Central Ltd., 2015)
      Background: WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of ...
    • Functionally conserved effects of rapamycin exposure on zebrafish 

      Sucularli, C.; Shehwana, H.; Kuscu, C.; Dungul, D. C.; Ozdag, H.; Konu, O. (Spandidos Publications, 2016-03)
      Mechanistic target of rapamycin (mTOR) is a conserved serine/threonine kinase important in cell proliferation, growth and protein translation. Rapamycin, a well-known anti-cancer agent and immunosuppressant drug, inhibits ...
    • Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction 

      Bonora, E.; Bianco, F.; Cordeddu, L.; Bamshad, M.; Francescatto, L.; Dowless, D.; Stanghellini, V.; Cogliandro, R. F.; Lindberg, G.; Mungan, Z.; Cefle, K.; Ozcelik, T.; Palanduz, S.; Ozturk, S.; Gedikbasi, A.; Gori, A.; Pippucci, T.; Graziano, C.; Volta, U.; Caio, G.; Barbara, G.; D'Amato, M.; Seri, M.; Katsanis, N.; Romeo, G.; De Giorgio, R. (W.B. Saunders, 2015)
      Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ...
    • Recessive LAMC3 mutations cause malformations of occipital cortical development 

      Barak, T.; Kwan, K. Y.; Louvi, A.; Demirbilek, V.; Saygi, S.; Tüysüz, B.; Choi, M.; Boyaci, H.; Doerschner, K.; Zhu, Y.; Kaymakçalan, H.; Yilmaz, S.; Bakircioglu, M.; Çağlayan, A. O.; Öztürk, A.K.; Yasuno, K.; Brunken W. J.; Atalar, E.; Yalçnkaya, C.; Dinçer, A.; Bronen, R. A.; Mane, S.; Özçelik, T.; Lifton, R. P.; Šestan, N.; Bilgüvar, K.; Günel, M. (Nature Publishing Group, 2011-05-15)
      The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral ...