science results
1. Duran I, Zieba J, Csukasi F, Martin JH, Barad M, Dawson B, Fafilek B, Jacobson C, Ambrose CG, Cohn DH, Krecji P, Lee B, Krakow D. ER stress reduction by 4-PBA treatment improves bone phenotypes in the Aga2 mouse model of osteogenesis imperfecta, JBMR. Jan 2022
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DOI:10.1002/jbmr.4501
2. Mari-Beffa M, Mesa-Roman AB, Duran I. Zebrafish models for human skeletal dysplasias. 2021 Frontiers in Genetics. In press.
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DOI:10.3389/fgene.2021.675331
3. Becerra J, Duran I. Inflammation, a common mechanism in frailty and COVID19, and Stem cells as a therapeutic approach 2021. Stem Cell Translational Medicine.1-9
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DOI:10.1002/sctm.21-0074
4. Kunova Bosakova M, Kimura T, Masatoshi F, Csukasi F, Duran I, Nakao K, Nakano Y, Kubota T, Balek L, NakamuraY, Ozono Y*, Krejci P* RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia. 2021 Science Translational Medicine 13. 592.
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DOI: 10.1126/scitranslmed.aba4226
5. Barad M, Csukasi F, Kunova-Bosakova M, Martin J, Zhang W, Taylor SP, Dix P, Lachman R, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I. Mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. 2020 EBioMedicine. 62. 103075
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6. Kunova Bosakova M, Kimura T, Abraham SP, Nita A, Hubra 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, UWCMG, Rohatgi R, Cohn DH, Krakow D, Krejci P. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. 2020 EMBO Mol Med. Nov 2020
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DOI:10.15252/emmm.201911739
7. Csukasi F, Rico G, Becerra J, Duran I. Should we unstress SARS-CoV-2 infected cells? (2020) Cytokines and Growth Factors Review. Aug; 54: 3–5
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DOI:10.1016/j.cytogfr.2020.06.011
8. Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Dominant-negative SOX9 mutations in campomelic dysplasia (2019) Hum. Mutat. Aug 7. doi: 10.1002/humu.23888
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DOI:10.1002/humu.23888
9. Balasubramanian K, Weis M, Eyre DR, Martin J, Ortiz-Sanchez J, Duran I, Vangala S, Wang J, Friedman RA, Krakow D, Cohn DH. The α2 chain of type IX collagen is essential for type IX collagen biosynthesis. (2019) Am J Med Genet A. Aug;179 (8):1672-1677
DOI:10.1002/ajmg.a.61208
10. 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. Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase. (2019) Proc Natl Acad Sci U S A. Feb 19. pii: 201800338.
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DOI:10.1073/pnas.1800338116
11. Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo C, Woods J, Lee H, Cohn DH, Krejci P, Krakow D. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. (2018) Science Translational medicine 10(459).
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DOI:10.1126/scitranslmed.aat9356
12. Bosakova MK, Varecha M, Buchtova M, Duran I, Nita A, Hampl A, Dosedelova H, Xie Y, Zhenhong N, Martin J, Chen L, Jansen G, Krakow D, Krejci P. Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. (2018) Human Molecular Genetics 27 (6):10093-1105.
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DOI:10.1093/hmg/ddy031
13. Duran I, Tenney J, Warren C, Sarukhanov A, Csukasi F, Skalansky M, Arispe ML, Krakow D. NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. (2018) American Journal of Medical Genetics, 1. 8
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14. Zhang W, Taylor SP, Ennis H, Forlenza KN, Duran I, Li B, Oritz J, Nevarez L, Nickerson DA, Bamshad M, UWCMG, Lachman RS, Krakow D, Cohn DH. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. (2017) Human Mutation, 1-15.
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15. Duran I, S. Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M. Jacques, Robert Wallerstein, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, Daniel H. Cohn and Deborah Krakow, Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. (2017) Cilia 6. 7.
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16. Duran I, Weis MA, Lietman C, Martin J, Li B, Krejc P, Lee B, Eyre D, Cohn D, Krakow D. An Endoplasmic Reticulum Chaperone Complex Modulates Lysyl Hydroxylation of Type I Procollagen. (2017) Journal of Bone and Mineral Research 32. 6.
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17. Marques F, Bateman JF, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. (2016) PLOS Genetics, 19, 9.
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18. Duran I, Taylor SP, Zhang W, Martin J, Forlenza FN, Spiro RP, Nickerson D, Bamshad M, Cohn DH, Krakow D. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. (2016) Scientific Reports, 6 p34232.
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19. Taylor SP, Kunova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza K, Martin J, Hampl A, Jaworski ML, Ko HW, Cohn DH, Krakow D, Krejci P. An inactivating mutation in intestinal cell kinase, ICK, causes short rib-polydactyly syndrome and impairs hedgehog signaling. (2016) Human Molecular Genetics.
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20. Zieba J, Forlenza K, Khatra JS, Sarukhanov A, Duran I, Rigueur D, Lyons KM, Merrill AE, Krakow D. TGFβ and BMP dependent cell fate changes due to loss of Filamin B produces disc degeneration and progressive vertebral fusions. (2016) PLOS Genetics. Mar 28;12(3):e1005936.
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DOI: 10.1371
21. Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel A, Tabler JM, Drew K, Kelley MR, Kim S, Park TJ, Braun D, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. A ciliopathy protein complex directs cytoplasmic assembly of the IFT machinery. (2016) Nature Genetics.
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DOI: 10.1038/ng.3558
22. Duran I, Csukasi F, Taylor SP, Krakow D, Becerra J, Bombarely A, Mari-Beffa M. Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton. (2015) Gene Expression Patterns.
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23. Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. (2015) Nature Communications. 6. 7096.
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24. Buchtova M, Oralova V, Aklian A, Masek J, Vesela I, Ouyang Z, Obadalova T, Konecna Z, Spoustova T, Pospisilova T, Matula P, Varecha M, Balek L, Gudernova I, Jelinkova I, Duran I, Cervenkova I, Murakami S, Kozubik A, Dvorak P, Bryja V, Krejci P. Fibroblast growth factor and canonical WNT/β-catenin signaling cooperate in suppression of chondrocyte differentiation in experimental models of FGFR signaling in cartilage. (2015) Biochim. Biophys. Acta. 1852, 839-850.
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25. Duran I., Ruiz-Sánchez J., Santamaría J. A. and Marí-Beffa M. Holmgren’s principle of delamination during fin skeletogenesis. (2014) Mechanisms of Development 135. 16-30.
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26. Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D and Cohn DH. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. (2014) Human Molecular Genetics. 24, 1918-1928.
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27. Duran I, Marí-Beffa M, Santamaría JA, Becerra J and Santos-Ruiz L. The collagen components of actinotrichia and their role in fin formation. (2011). Developmental Biology. Volume 354, Issue 1, 1 June 2011, 160-172.
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28. Duran I, Marí-Beffa M, Santamaría JA, Becerra J, Santos-Ruiz L. Freeze-substitution followed by low-melting point wax embedding preserves histomorphology and allows protein and mRNA localization techniques. (2010) Microscopy Research and Technique. Sep.
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29. Murciano C, Pérez-Claros J, Smith A, Avaron F, Fernández TD, Duran I, J. Ruiz-Sánchez J, García F, Becerra J, Akimenko MA, Marí-Beffa M. Position dependence of hemiray morphogenesis during tail fin regeneration in Danio rerio. (2007) Developmental Biology. Dec 1;312(1):272-83.
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30. Murciano, C., Fernández, T.D., Duran, I., Maseda, D., Ruiz, J., Becerra, J., Akimenko, M.A., y Marí-Beffa, M Ray-Interray interactions during fin regeneration of Danio rerio. (2002). Developmental Biology. 252, 214-224.
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31. Murciano, C., Ruiz, J., Maseda, D., Fernández, T.D., Duran, I., Marín Girón, F., Becerra, J. y Marí-Beffa, M. 2001, Ray and inter-ray blastemas interact to control bifurcations of Danio rerio fin rays. (2001) International Journal of Developmental Biology 45 (S1) S129-S130.
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