- Title
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
- Authors
- Gueneau, L., Fish, R.J., Shamseldin, H.E., Voisin, N., Tran Mau-Them, F., Preiksaitiene, E., Monroe, G.R., Lai, A., Putoux, A., Allias, F., Ambusaidi, Q., Ambrozaityte, L., Cimbalistienė, L., Delafontaine, J., Guex, N., Hashem, M., Kurdi, W., Jamuar, S.S., Ying, L.J., Bonnard, C., Pippucci, T., Pradervand, S., Roechert, B., van Hasselt, P.M., Wiederkehr, M., Wright, C.F., DDD Study, Xenarios, I., van Haaften, G., Shaw-Smith, C., Schindewolf, E.M., Neerman-Arbez, M., Sanlaville, D., Lesca, G., Guibaud, L., Reversade, B., Chelly, J., Kučinskas, V., Alkuraya, F.S., Reymond, A.
- Source
- Full text @ Am. J. Hum. Genet.
kiaa1109 Knockdown in Zebrafish Results in Phenotypes Reminiscent of Probands’ Clinical Features (A) Lateral views representing the four classes of observed phenotypes in 2 dpf TU zebrafish embryos injected with sbE4-MO (morpholino) targeting kiaa1109: from top left to bottom right, normal, hydrocephalic or other head defects, curved and curved with head defect. (B) Results for uninjected embryos (left) and those injected with equivalent amounts of standard control MO (center) or kiaa1109 sbE4-MO (6.7 ng, right). Phenotyping and scoring were performed at 2 dpf in two independent experiments. (C) Results for uninjected embryos (left) and those injected with equivalent amounts of standard control MO (center) or kiaa1109 sbE2-MO (16.9 ng, right). Phenotyping and scoring were performed at 2 dpf in two independent experiments. PHENOTYPE:
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. PHENOTYPE:
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