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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: barta t. 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.
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: barta t. 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.
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: barta t. Sci Transl Med. 2018 Sep 19;10(459):eaat9356. doi: 10.1126/scitranslmed.aat9356. Sci Transl Med. 2018. PMID: 30232230 Free PMC article.
Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase.
Kunova Bosakova M, Nita A, Gregor T, Varecha M, Gudernova I, Fafilek B, Barta T, Basheer N, Abraham SP, Balek L, Tomanova M, Fialova Kucerova J, Bosak J, Potesil D, Zieba J, Song J, Konik P, Park S, Duran I, Zdrahal Z, Smajs D, Jansen G, Fu Z, Ko HW, Hampl A, Trantirek L, Krakow D, Krejci P. Kunova Bosakova M, et al. Among authors: barta t. Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4316-4325. doi: 10.1073/pnas.1800338116. Epub 2019 Feb 19. Proc Natl Acad Sci U S A. 2019. PMID: 30782830 Free PMC article.
RNF43 inhibits WNT5A-driven signaling and suppresses melanoma invasion and resistance to the targeted therapy.
Radaszkiewicz T, Nosková M, Gömöryová K, Vondálová Blanářová O, Radaszkiewicz KA, Picková M, Víchová R, Gybeľ T, Kaiser K, Demková L, Kučerová L, Bárta T, Potěšil D, Zdráhal Z, Souček K, Bryja V. Radaszkiewicz T, et al. Among authors: barta t. Elife. 2021 Oct 27;10:e65759. doi: 10.7554/eLife.65759. Elife. 2021. PMID: 34702444 Free PMC article.
141 results