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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
Bosakova M, Abraham SP, Nita A, Hruba E, Buchtova M, Taylor SP, Duran I, Martin J, Svozilova K, Barta T, Varecha M, Balek L, Kohoutek J, Radaszkiewicz T, Pusapati GV, Bryja V, Rush ET, Thiffault I, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Rohatgi R, Cohn DH, Krakow D, Krejci P. Bosakova M, et al. Among authors: martin j. EMBO Mol Med. 2020 Nov 6;12(11):e11739. doi: 10.15252/emmm.201911739. Epub 2020 Oct 14. EMBO Mol Med. 2020. PMID: 33200460 Free PMC article.
Instability restricts signaling of multiple fibroblast growth factors.
Buchtova M, Chaloupkova R, Zakrzewska M, Vesela I, Cela P, Barathova J, Gudernova I, Zajickova R, Trantirek L, Martin J, Kostas M, Otlewski J, Damborsky J, Kozubik A, Wiedlocha A, Krejci P. Buchtova M, et al. Among authors: martin j. Cell Mol Life Sci. 2015 Jun;72(12):2445-59. doi: 10.1007/s00018-015-1856-8. Epub 2015 Feb 18. Cell Mol Life Sci. 2015. PMID: 25854632
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; University of Washington Center for Mendelian Genomics; Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P. Paige Taylor S, et al. Among authors: martin jh. Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466187 Free PMC article.
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. Zieba J, et al. Among authors: martin jh. Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803. Sci Rep. 2017. PMID: 28205584 Free PMC article.
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P. Kunova Bosakova M, et al. Hum Mol Genet. 2018 Mar 15;27(6):1093-1105. doi: 10.1093/hmg/ddy031. Hum Mol Genet. 2018. PMID: 29360984 Free PMC article.
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