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Page 1
Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Csukasi F, et al. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 Free PMC article.
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.
Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D. Duran I, et al. Among authors: csukasi f. Am J Med Genet A. 2018 Mar;176(3):649-656. doi: 10.1002/ajmg.a.38600. Epub 2018 Jan 24. Am J Med Genet A. 2018. PMID: 29363855 Free PMC article.
Should we unstress SARS-CoV-2 infected cells?
Csukasi F, Rico G, Becerra J, Duran I. Csukasi F, et al. Cytokine Growth Factor Rev. 2020 Aug;54:3-5. doi: 10.1016/j.cytogfr.2020.06.011. Epub 2020 Jun 11. Cytokine Growth Factor Rev. 2020. PMID: 32563554 Free PMC article. No abstract available.
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. Barad M, et al. Among authors: csukasi f. EBioMedicine. 2020 Dec;62:103075. doi: 10.1016/j.ebiom.2020.103075. Epub 2020 Nov 23. EBioMedicine. 2020. PMID: 33242826 Free PMC article.
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
Kimura T, Bosakova M, Nonaka Y, Hruba E, Yasuda K, Futakawa S, Kubota T, Fafilek B, Gregor T, Abraham SP, Gomolkova R, Belaskova S, Pesl M, Csukasi F, Duran I, Fujiwara M, Kavkova M, Zikmund T, Kaiser J, Buchtova M, Krakow D, Nakamura Y, Ozono K, Krejci P. Kimura T, et al. Among authors: csukasi f. Sci Transl Med. 2021 May 5;13(592):eaba4226. doi: 10.1126/scitranslmed.aba4226. Sci Transl Med. 2021. PMID: 33952673
Cellular stress modulates severity of the inflammatory response in lungs via cell surface BiP.
Rico-Llanos G, Porras-Perales Ó, Escalante S, Vázquez-Calero DB, Valiente L, Castillo MI, Pérez-Tejeiro JM, Baglietto-Vargas D, Becerra J, Reguera JM, Duran I, Csukasi F. Rico-Llanos G, et al. Among authors: csukasi f. Front Immunol. 2022 Nov 18;13:1054962. doi: 10.3389/fimmu.2022.1054962. eCollection 2022. Front Immunol. 2022. PMID: 36466830 Free PMC article.
Generation and analysis of ESTs from strawberry (Fragaria xananassa) fruits and evaluation of their utility in genetic and molecular studies.
Bombarely A, Merchante C, Csukasi F, Cruz-Rus E, Caballero JL, Medina-Escobar N, Blanco-Portales R, Botella MA, Muñoz-Blanco J, Sánchez-Sevilla JF, Valpuesta V. Bombarely A, et al. Among authors: csukasi f. BMC Genomics. 2010 Sep 17;11:503. doi: 10.1186/1471-2164-11-503. BMC Genomics. 2010. PMID: 20849591 Free PMC article.
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