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Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR.
Csukasi F, Bosakova M, Barta T, Martin JH, Arcedo J, Barad M, Rico-Llanos GA, Zieba J, Becerra J, Krejci P, Duran I, Krakow D. Csukasi F, et al. Among authors: martin jh. Front Cell Dev Biol. 2023 Jan 16;10:963389. doi: 10.3389/fcell.2022.963389. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726589 Free PMC article.
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. Among authors: martin jh. Hum Mol Genet. 2018 Mar 15;27(6):1093-1105. doi: 10.1093/hmg/ddy031. Hum Mol Genet. 2018. PMID: 29360984 Free PMC article.
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D. Csukasi F, et al. Among authors: martin jh. Sci Transl Med. 2018 Sep 19;10(459):eaat9356. doi: 10.1126/scitranslmed.aat9356. Sci Transl Med. 2018. PMID: 30232230 Free PMC article.
546 results