Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A

Autor: Matthew Gianferante, D., Wlodarski, M. W., Atsidaftos, E., Da Costa, L., Delaporta, P., Farrar, J. E., Goldman, F. D., Hussain, M., Kattamis, A., Leblanc, T., Lipton, J. M., Niemeyer, C. M., Pospisilova, D., Quarello, P., Ramenghi, U., Sankaran, V. G., Vlachos, A., Volejnikova, J., Alter, B. P., Savage, S. A., Giri, N.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______970::df9163b585265444358ba4d9b91fb936
http://hdl.handle.net/2318/1846170

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Mapping the human genetic architecture of COVID-19

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Albertos, R, Perez-Tur, J, Li, R, Folkersen, L, Moltke, I, Koelling, N, Teumer, A, Kousathanas, A, Utrilla, A, Verdugo, RA, Zarate, R, Medina-Gomez, C, Gomez-Cabrero, D, Carnero-Montoro, E, Cadilla, CL, Moreno-Estrada, A, Garmendia, A, Moya, L, Sedaghati-Khayat, B, Boua, PR, Fave, M-J, Francioli, L, Lemacon, A, Migeotte, I, Patel, S, Varnai, R, Szentpeteri, JL, Sipeky, C, Colombo, F, von Hohenstaufen, K, Lio, P, Vallerga, C, Wang, Q, Tanigawa, Y, Im, H, Han, C, Song, H, Lim, J, Lee, Y, Kim, S, Im, S, Atanasovska, B, Ahmad, HF, Boer, C, Jansen, P, Franke, L, Kaja, E, Pasko, D, Kennis-Szilagyi, I, Kornilov, SA, Prijatelj, V, Prokic, I, Sivanadhan, I, Perumal, S, Esmaeeli, S, Pearson, NM, Auton, A, Shelton, JF, Shastri, AJ, Filshtein-Sonmez, T, Coker, D, Symons, A, Esparza-Gordillo, J, Aslibekyan, S, O'Connell, J, Ye, C, Weldon, CH, Perera, M, O'Leary, K, Tuck, M, O'Brien, T, Meltzer, D, O'Donnell, P, Nutescu, E, Yang, G, Alarcon, C, Herrmann, S, Mazurek, S, Banagan, J, Hamidi, Z, 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Publikováno v: NATURE
Initiative, COVID H G & Dark, P 2021, ' Mapping the human genetic architecture of COVID-19. ', Nature, vol. 600, no. 7889, pp. 472-477 . https://doi.org/10.1038/s41586-021-03767-x
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COVID-19 Host Genetics Initiative 2021, ' Mapping the human genetic architecture of COVID-19 ', Nature, vol. 600, no. 7889, pp. 472-477 . https://doi.org/10.1038/s41586-021-03767-x
Nature, 2021, 600 (7889), pp.472-477. ⟨10.1038/s41586-021-03767-x⟩
Nature, Vol. 600, no. ²7889, p. 472-477 (2021)
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Niemi, M E K, Karjalainen, J, Liao, R G, Neale, B M, Daly, M, Ganna, A, Pathak, G A, Andrews, S J, Kanai, M, Veerapen, K, Fernandez-Cadenas, I, Schulte, E C, Striano, P, Marttila, M, Minica, C, Marouli, E, Karim, M A, Wendt, F R, Savage, J, Sloofman, L, Butler-Laporte, G, Kim, H-N, Kanoni, S, Okada, Y, Byun, J, Han, Y, Uddin, M J, Smith, G D, Willer, C J, Buxbaum, J D, Karjalainen, J, Mehtonen, J, Folkersen, L, Moltke, I, Hinney, A, Wang, C, Ellinghaus, D, Brunak, S, Castro, P, Guindo-Martinez, M, Lee, J Y, Loos, R J F, Zhao, J H, Sun, Y V, Wang, B, Parker, R, Garcia, S M, Smith, O, Davis, C, COVID-19 Host Genetics Initiative, 23andMe COVID-19 Team, Norwegian SARS-CoV-2 Study Grp, Humanitas COVID-19 Task Force, Humanitas Gavazzeni COVID-19 Task, FHoGID, RegCOVID, P-PredictUs, SeroCOVID, CRiPSI, Genes & Hlth Res Team & UCLA Hlth ATLAS Data Mart Working 2021, ' Mapping the human genetic architecture of COVID-19 ', Nature, vol. 600, pp. 472-477 . https://doi.org/10.1038/s41586-021-03767-x
Nature (Lond.) 600 (2021): 472–+. doi:10.1038/s41586-021-03767-x
info:cnr-pdr/source/autori:Mari E. K. Niemi; Juha Karjalainen; Rachel G. Liao; Benjamin M. Neale; Mark Daly; Andrea Ganna; COVID-19 Host Genetics Initiative and the GEN-COVID Multicenter Study (including Stella, Alessandra and Biscarini, Filippo)/titolo:Mapping the human genetic architecture of COVID-19/doi:10.1038%2Fs41586-021-03767-x/rivista:Nature (Lond.)/anno:2021/pagina_da:472/pagina_a:+/intervallo_pagine:472–+/volume:600
Ganna, A & Davey Smith, G 2021, ' Mapping the human genetic architecture of COVID-19 ', Nature . https://doi.org/10.1038/s41586-021-03767-x
Nature 600, 472-477 (2021)
Baillie, J K, Wilson, J F, Bulteel, N, Hayward, C, Klaric, L, Porteous, D J, Russell, C D, Tenesa, A, Norman, L & Scott-Brown, J & Swann, O 2021, ' Mapping the human genetic architecture of COVID-19 ', Nature . https://doi.org/10.1038/s41586-021-03767-x

Niemi, Mari E. K. et al. 39 páginas, figuras y tablas. Contiene material suplementario.
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974d087615705cffb4d0d7bdc6394ffc
https://eprints.soton.ac.uk/456122/

MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment

Autor: Harvey F. Lodish, Vijay G. Sankaran, Lingbo Zhang

Publikováno v: PMC

MicroRNAs (miRNAs) are a class of small regulatory noncoding RNAs that modulate the expression of their target genes through either mRNA degradation or inhibition of protein translation. In recent years, miRNAs have been shown to be critical regulato

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ac085a5c0d10887f57c9da5fde5de4
https://pubmed.ncbi.nlm.nih.gov/22617791

Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains.

Autor: Ferguson KM; Department of Biochemistry and Biophysics and The Johnson Foundation, University of Pennsylvania School of Medicine, Philadelphia 19104, USA., Kavran JM, Sankaran VG, Fournier E, Isakoff SJ, Skolnik EY, Lemmon MA

Publikováno v: Molecular cell [Mol Cell] 2000 Aug; Vol. 6 (2), pp. 373-84.