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@article{1362765, author = {Taylor, S. Paige and Bosáková, Michaela and Vařecha, Miroslav and Bálek, Lukáš and Bárta, Tomáš and Trantírek, Lukáš and Jelínková, Iva and Duran, Ivan and Veselá, Iva and Forlenza, Kimberly N. and Martin, Jorge H. and Hampl, Aleš and Bamshad, Michael and Nickerson, Deborah and Jaworski, Margie L. and Song, Jieun and Wan Ko, Hyuk and Cohn, Daniel H. and Krakow, Deborah and Krejčí, Pavel}, article_location = {Oxford}, article_number = {18}, doi = {http://dx.doi.org/10.1093/hmg/ddw240}, keywords = {signal transduction; mutation; fibroblast; cartilage; genes; epiphysial cartilage; erinaceidae; homozygote; intestines; phosphotransferases; polydactyly; ribs; short rib-polydactyly syndrome; cilia; long bone; whole exome sequencing}, language = {eng}, issn = {0964-6906}, journal = {Human Molecular Genetics}, title = {An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome}, volume = {25}, year = {2016} }
TY - JOUR ID - 1362765 AU - Taylor, S. Paige - Bosáková, Michaela - Vařecha, Miroslav - Bálek, Lukáš - Bárta, Tomáš - Trantírek, Lukáš - Jelínková, Iva - Duran, Ivan - Veselá, Iva - Forlenza, Kimberly N. - Martin, Jorge H. - Hampl, Aleš - Bamshad, Michael - Nickerson, Deborah - Jaworski, Margie L. - Song, Jieun - Wan Ko, Hyuk - Cohn, Daniel H. - Krakow, Deborah - Krejčí, Pavel PY - 2016 TI - An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome JF - Human Molecular Genetics VL - 25 IS - 18 SP - 3998-4011 EP - 3998-4011 PB - Oxford University Press SN - 09646906 KW - signal transduction KW - mutation KW - fibroblast KW - cartilage KW - genes KW - epiphysial cartilage KW - erinaceidae KW - homozygote KW - intestines KW - phosphotransferases KW - polydactyly KW - ribs KW - short rib-polydactyly syndrome KW - cilia KW - long bone KW - whole exome sequencing N2 - The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs, shortened long bones, varying types of polydactyly and concomitant visceral abnormalities. 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. ER -
TAYLOR, S. Paige, Michaela BOSÁKOVÁ, Miroslav VAŘECHA, Lukáš BÁLEK, Tomáš BÁRTA, Lukáš TRANTÍREK, Iva JELÍNKOVÁ, Ivan DURAN, Iva VESELÁ, Kimberly N. FORLENZA, Jorge H. MARTIN, Aleš HAMPL, Michael BAMSHAD, Deborah NICKERSON, Margie L. JAWORSKI, Jieun SONG, Hyuk WAN KO, Daniel H. COHN, Deborah KRAKOW a Pavel KREJČÍ. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. \textit{Human Molecular Genetics}. Oxford: Oxford University Press, roč.~25, č.~18, s.~3998-4011. ISSN~0964-6906. doi:10.1093/hmg/ddw240. 2016.
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