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Paige Taylor, S.,Kunova Bosakova, Michaela,Varecha, Miroslav,Balek, Lukas,Barta, Tomas,Trantirek, Lukas,Jelinkova, Iva,Duran, Ivan,Vesela, Iva,Forlenza, Kimberly N.,Martin, Jorge H.,Hampl, Ales,Bamsha IRL Press 2016 Human molecular genetics Vol.25 No.18
<P>Mutations in several genes affecting cilia function cause SRPS, revealing a role for cilia function in skeletal development. To identify additional SRPS genes and discover novel ciliary molecules required for normal skeletogenesis, we performed exome sequencing in a cohort of patients and identified homozygosity for a missense mutation, p. E80K, in Intestinal Cell Kinase, ICK, in one SRPS family. The p. E80K mutation abolished serine/threonine kinase activity, resulting in altered ICK subcellular and ciliary localization, increased cilia length, aberrant cartilage growth plate structure, defective Hedgehog and altered ERK signalling. These data identify ICK as an SRPS-associated gene and reveal that abnormalities in signalling pathways contribute to defective skeletogenesis.</P>