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Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture

Autor: Lee, K., Santibanez-Koref, M., Polvikoski, T., Birchall, D., Mendelow, A.D., Keavney, B.

Publikováno v: In Atherosclerosis January 2013 226(1):74-81

A de novo paradigm for male infertility

Autor: Oud, M.S., Smits, R.M., Smith, H.E., Mastrorosa, F.K., Holt, G.S., Houston, B.J., de Vries, P.F., Alobaidi, B.K.S., Batty, L.E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G.D.N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D.D.M., Fleischer, K., D’Hauwers, K.W.M., Schaafsma, E., Conrad, Donald F., Nagirnaja, Liina, Aston, Kenneth I., Carrell, Douglas T., Hotaling, James M., Jenkins, Timothy G., McLachlan, Rob, O’Bryan, Moira K., Schlegel, Peter N., Eisenberg, Michael L., Sandlow, Jay I., Jungheim, Emily S., Omurtag, Kenan R., Lopes, Alexandra M., Seixas, Susana, Carvalho, Filipa, Fernandes, Susana, Barros, Alberto, Gonçalves, João, Caetano, Iris, Pinto, Graça, Correia, Sónia, Laan, Maris, Punab, Margus, Meyts, Ewa Rajpert-De, Jørgensen, Niels, Almstrup, Kristian, Krausz, Csilla G., Jarvi, Keith A., Nagirnaja, L., Conrad, D.F., Friedrich, C., Kliesch, S., Aston, K.I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L.E.L.M., Tüttelmann, F., O’Bryan, M.K., Ramos, L., Xavier, M.J., van der Heijden, G.W., Veltman, J.A.

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications, 13
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Nature Communications, 13, 1

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e1b24767adef20029e3a8aa6e2042

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Autor: Gallon, R., Muhlegger, B., Wenzel, S.S., Sheth, H., Hayes, C., Aretz, S., Dahan, K., Foulkes, W., Kratz, C.P., Ripperger, T., Azizi, A.A., Feldman, H.B., Chong, A.L., Demirsoy, U., Florkin, B., Imschweiler, T., Januszkiewicz-Lewandowska, D., Lobitz, S., Nathrath, M., Pander, H.J., Perez-Alonso, V., Perne, C., Ragab, I., Rosenbaum, T., Rueda, D., Seidel, M.G., Suerink, M., Taeubner, J., Zimmermann, S.Y., Zschocke, J., Borthwick, G.M., Burn, J., Jackson, M.S., Santibanez-Koref, M., Wimmer, K.

Publikováno v: Human Mutation
Human Mutation, 40(5), 649-655. WILEY

Constitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of numerous pediatric malignancies and benefit from surveillance and adjus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::65f5807b9db27cbc1c83f6ec1fc966fe
https://hdl.handle.net/1887/3195147

The role of the RAS pathway in iAMP21-ALL

Autor: Ryan, S L, Matheson, E, Grossmann, V, Sinclair, P, Bashton, M, Schwab, C, Towers, W, Partington, M, Elliott, A, Minto, L, Richardson, S, Rahman, T, Keavney, B, Skinner, R, Bown, N, Haferlach, T, Vandenberghe, P, Haferlach, C, Santibanez-Koref, M, Moorman, A V, Kohlmann, A, Irving, J A E, Harrison, C J

Publikováno v: Leukemia
Ryan, S L, Matheson, E, Grossmann, V, Sinclair, P, Bashton, M, Schwab, C, Towers, W, Partington, M, Elliott, A, Minto, L, Richardson, S, Rahman, T, Keavney, B, Skinner, R, Bown, N, Haferlach, T, Vandenberghe, P, Haferlach, C, Santibanez-Koref, M, Moorman, A V, Kohlmann, A, Irving, J A E & Harrison, C J 2016, ' The role of the RAS pathway in iAMP21-ALL ', Leukemia, vol. 30, no. 9, pp. 1824-31 . https://doi.org/10.1038/leu.2016.80

Intrachromosomal amplification of chromosome 21 (iAMP21) identifies a high-risk subtype of acute lymphoblastic leukaemia (ALL), requiring intensive treatment to reduce their relapse risk. Improved understanding of the genomic landscape of iAMP21-ALL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::809c8970a5a3563959f1b377521bce09
http://europepmc.org/articles/PMC5017527