ESTONIAN ACADEMY
PUBLISHERS
eesti teaduste
akadeemia kirjastus
EESTI VABARIIGI PREEMIAD
EESTI VABARIIGI PREEMIAD
ISSN 1406-2321 (print)
ISSN 2674-3019 (electronic)
Research article
HARULDASTE JA ENIM LEVINUD ORTOPEEDILISTE HAIGUSTE MOLEKULAARSED MEHHANISMID JA KÄSITLUS; pp. 154–167
PDF | https://doi.org/10.3176/evp.2024.07

Authors
Aare Märtson, Katre Maasalu
References

Binh, H. D. 2017. Osteogenesis imperfecta in Vietnam. PhD thesis. University of Tartu Press.

Bollmann, M., Pinno, K., Ehnold, L. I., Märtens, N., Märtson, A., Pap, T., Stärke, C., Lohmann, C. H., Bertrand, J. 2021. MMP-9 mediated Syndecan-4 shedding correlates with osteoarthritis severity. Osteoarthritis and Cartilage, 29(2), 280–289. 
https://doi.org/10.1016/j.joca.2020.10.009

Ho, D. X. 2018. Characterization of the genomic profile of osteosarcoma. PhD thesis. University of Tartu Press.

Ingale, D., Kulkarni, P., Electricwala, A., Moghe, A., Kamyab, S., Jagtap, S., Märtson, A., Kõks, S., Harsulkar, A. 2021. Synovium-synovial fluid axis in osteoarthritis pathology: A key regulator of the cartilage degradation process. Genes, 12(7), 989. 
https://doi.org/10.3390/genes12070989

Kulkarni, P. 2022. Osteoarthritis pathogenesis: an immunological passage through synovium-synovial fluid axis. PhD thesis. University of Tartu Press.

Kulkarni, P., Harsulkar, A., Märtson, A-G., Suutre, S., Märtson, A., Kõks, S. 2022. Mast cells differentiated in synovial fluid and resident in osteophytes exalt the inflammatory pathology of osteoarthritis. International Journal of Molecular Sciences, 23(1), 541. 
https://doi.org/10.3390/ijms23010541

Kulkarni, P., Märtson, A., Vidya, R., Chitnavis, S., Harsulkar, A. 2021. Patho-physiological landscape of osteoarthritis. Advances in Clinical Chemistry, 100, 37–90. 
https://doi.org/10.1016/bs.acc.2020.04.002

Kõks, S., Wood, D. J., Reimann, E., Awiszus, F., Lohmann, C. H., Bertrand, J., Prans, E., Maasalu, K., Märtson, A. 2020. The genetic variations associated with time to aseptic loosening after total joint arthroplasty. Journal of Arthroplasty 35(4), 981–988. 
https://doi.org/10.1016/j.arth.2019.11.004

Rothzerg, E., Ho, X. D., Xu, J. K., Wood, D., Märtson, A., Kõks, S. 2021. Up-regulation of 15 antisense long non-coding RNAs in osteosarcoma. Genes, 12(8), 1132. 
https://doi.org/10.3390/genes12081132

Rothzerg, E., Ho, X. D., Xu, J. K., Wood, D., Märtson, A., Maasalu, K., Kõks, S. 2020. Alternative splicing of leptin receptor overlapping transcript in osteosarcoma. Experimental Biology and Medicine, 245(16), 1437–1443. 
https://doi.org/10.1177/1535370220949139

Storoni, S., Celli, L.; Zhytnik, L., Maasalu, K., Märtson, A., Kõks, S., Khmyzov, S., Pashenko, A., Maugeri, A., Zambrano, A., Celli, M., Eekhoff, E. M. W., Micha, D. 2023. Novel pathogenic variants in SPARC as cause of Osteogenesis Imperfecta: Two case reports. European Journal of Medical Genetics, 66(11), 104857. 
https://doi.org/10.1016/j.ejmg.2023.104857

Zhytnik, L. 2019. Inter- and intrafamilial diversity based on genotype and phenotype correlations of Osteogenesis Imperfecta. PhD thesis. University of Tartu Press.

Zhytnik, L., Duy, B. H., Eekhoff, M., Wisse, L., Pals, G., Reimann, E., Kõks, S., Märtson, A., Maugeri, A., Maasalu, K., Micha, D., 2022. Phenotypic variation in Vietnamese Osteogenesis Imperfecta patients sharing a recessive P3H1 pathogenic variant. Genes (Basel), 13(3), 407. 
https://doi.org/10.3390/genes13030407

Zhytnik, L., Maasalu, K., Duy, B. H., Pashenko, A., Khmyzov, S., Reimann, E., Prans, E., Kõks, S., Märtson, A. 2019a. De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. Molecular Genetics & Genomic Medicine, 7(3), e559. 
https://doi.org/10.1002/mgg3.559

Zhytnik, L., Maasalu, K., Duy, B. H., Pashenko, A., Khmyzov, S., Reimann, E., Prans, E., Kõks, S., Märtson, A. 2019b. IFITM5 pathogenic variant causes osteo-genesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. Human Genomics, 13, 25.
https://doi.org/10.1186/s40246-019-0209-3

Zhytnik, L., Maasalu, K., Pashenko, A., Khmyzov, S., Reimann, E., Prans, E., Kõks, S., Märtson, A. 2019c. COL1A1/2 pathogenic variants and phenotype -characteristics in Ukrainian Osteogenesis Imperfecta patients. Frontiers in -Genetics, 10, 722. 
https://doi.org/10.3389/fgene.2019.00722

Zhytnik, L., Maasalu, K., Reimand, T., Duy, B. H., Kõks, S., Märtson, A. 2020a. Inter- and intrafamilial phenotypic variability in individuals with collagen--telated Osteogenesis Imperfecta. CTS – Clinical and Translational Science, 13(5), 960–971. 
https://doi.org/10.1111/cts.12783

Zhytnik, L., Maasalu, K., Reimann, E., Märtson, A., Kõks, S. 2020b. RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta. BMC Medical Genomics, 13, 177. 
https://doi.org/10.1186/s12920-020-00825-7

Zhytnik, L., Peters, M., Tilk, K., Simm, K., Tõnisson, N., Reimand, T., Maasalu, K., Acharya, G., Krjutškov, K., Salumets, A., 2021. From late fatherhood to pre-natal screening of monogenic disorders: evidence and ethical concerns. Human -Reproduction Update, 27(6), 1056–1085. 
https://doi.org/10.1093/humupd/dmab023

Zhytnik, L., Simm, K., Salumets, A., Peters, M., Märtson, A., Maasalu, K. 2020c. Reproductive options for families at risk of Osteogenesis Imperfecta: a review. Orphanet Journal of Rare Diseases, 15, 128. 
https://doi.org/10.1186/s13023-020-01404-w

Tootsi, K., Vilba, K., Märtson, A., Kals, J., Paapstel, K., Zilmer, M. 2020. Metabolomic signature of amino acids, biogenic amines and lipids in blood serum of patients with severe osteoarthritis. Metabolites, 10(8), 323 
https://doi.org/10.3390/metabo10080323

Back to Issue