Molecular profile of the Lynch Syndrome in the Republic of Macedonia

Autor: Marija Hiljadnikova-Bajro, Toni Josifovski, Milco Panovski, Aleksandar J. Dimovski

Publikováno v: Makedonsko Farmacevtski Bilten, Vol 58, Iss (1, 2), Pp 15-24 (2012)

The most frequent type of hereditary colorectal cancer, the one occurring in the setting of the Lynch syndrome (LS) is considered a phenotypic manifestation of a germline defect in the mismatch repair mechanism i.e. in the MLH1, MSH2, MSH6 or PMS2 g

Externí odkaz: https://doaj.org/article/2cc4f38ef4b94712b9dae92c24da2209

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Autor: Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Laura E. Thomas, Constantinos Deltas, Aleksandar J. Dimovski, Dagmara Dymerska, Jan Lubinski, Khalid Mahmood, Rachel S. van der Post, Mathijs Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo-Pac, Giulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas J. Gruber, Ben Kinnersley, Boris Noyvert, David Church, Trevor Graham, Richard Houlston, Nuria Lopez-Bigas, Andrea Sottoriva, David Wedge, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Jeremy P. Cheadle, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andres Dacal Rivas, Ingrid M. Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Derek G. Power, Andrew Green, Ian P.M. Tomlinson, Julian R. Sampson, Ian J. Majewski, Richarda M. de Voer

Publikováno v: American Journal of Human Genetics, 109(5), 953-960. Cell Press
Palles, C, West, H, Chew, E, Galavotti, S, Flensburg, C, Grolleman, J, Jansen, E, Curley, H, Chedwiggen, L, Arbe-Barnes, E, Lander, N, Truscot, R, Pagan, J, Bajel, A, Sherwood, K, Martin, L, Thomas, H, Georgiou, D, Fostira, F, Goldberg, Y, Adams, D, van der Biezen, S, Christie, M, Clendenning, M, Thomas, L, Deltas, C, Dimovski, A, Dymerska, D, Lubinski, J, Mahmood, K, van der Post, R, Sanders, M, Weitz, J, Taylor, J, Turnbull, C, Vreede, L, van Wezel, T, Whalley, C, Arnedo, C, Caravagna, G, Cross, W, Chubb, D, Frangou, A, Gruber, A, Kinnersley, B, Noyvert, B, Church, D, Graham, T, Houlston, R, Lopez, N, Sottoriva, A, Wedge, D, Jenkins, M, Kuiper, R, Roberts, A, Cheadle, J, Ligtenberg, M, Hoogerbrugge, N, Koelzer, V, Dacal Rivas, A, Winship, I, Ruiz Ponte, C, Buchanan, D, Power, D, Green, A, Tomlinson, I P M, Sampson, J, Majewski, I & M. de Voer, R 2022, ' Germline MBD4-deficiency causes a multi-tumor predisposition syndrome ', American Journal of Human Genetics, vol. 109, no. 5, pp. 953-960 . https://doi.org/10.1016/j.ajhg.2022.03.018
American Journal of Human Genetics, 109, 953-960
American Journal of Human Genetics, 109, 5, pp. 953-960

Contains fulltext : 251996.pdf (Publisher’s version ) (Open Access) We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57bab222db11593a33cdeea1ce5674f
https://doi.org/10.1016/j.ajhg.2022.03.018

Macrophage- and BCR-derived but not TLR-derived signals support the growth of CLL and Richter syndrome murine models in vivo

Autor: Claudio Martines, Supriya Chakraborty, Marija Vujovikj, Stefania Gobessi, Tiziana Vaisitti, Silvia Deaglio, Luca Laurenti, Aleksandar J. Dimovski, Dimitar G. Efremov

A large amount of circumstantial evidence has accumulated suggesting that Toll-like receptor (TLR) signals are involved in driving chronic lymphocytic leukemia (CLL) cell proliferation, but direct in vivo evidence for this is still lacking. We have n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7cbbdbd7f254ae6218a0dd14a8513c
https://hdl.handle.net/2318/1887765

Poster: AML-327: Plasmacytoid Dendritic Cell Proliferation Associated with Acute Myeloid Leukemia: A Case Report

Autor: Irina Panovska-Stavridis, Nevenka Ridova, Simona Stojanovska, Sanja Trajkova, Aleksandra Pivkova-Veljanovska, Marija Popova-Labachevska, Martin Ivanovski, Lazar Cadievski, Lidija Cevreska, Gordana Petrushevska, Aleksandar J Dimovski

Publikováno v: Clinical Lymphoma Myeloma and Leukemia. 21:S219

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e92a08bb11e4e52d47a556a12ea411e6
https://doi.org/10.1016/s2152-2650(21)01382-3

Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations

Autor: Titus H.J. Huisman, Enis Boletini, Aleksandar J. Dimovski, E. Baysal, Adekunle Adekile, Martina Svobodova, V. Divoky, Mehmet A. Cürük, Rong Liang

Publikováno v: Human genetics. 93(2)

We have analyzed the hemoglobin abnormalities in nearly 50 Albanian patients with a significant hemoglobinopathy and included 37 relatives in this study. Sickle cell anemia (SS) is a common disorder; all 15 sickle cell anemia patients had the complic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ac8e2b4fdf6ede9101c487bd8fe137
https://pubmed.ncbi.nlm.nih.gov/8112743