An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P
Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27. PubMed Article
Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P
Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27. PubMed Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 214910 | CILK1-E80K | expression of the mutant variant of CILK1 |
| 214911 | CILK1-R272Q | expression of the mutant variant of CILK1 |