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Page 1
Transcriptional variability accelerates preleukemia by cell diversification and perturbation of protein synthesis.
Gupta S, Dovey OM, Domingues AF, Cyran OW, Cash CM, Giotopoulos G, Rak J, Cooper J, Gozdecka M, Dijkhuis L, Asby RJ, Al-Jabery N, Hernandez-Hernandez V, Prabakaran S, Huntly BJ, Vassiliou GS, Pina C. Gupta S, et al. Sci Adv. 2022 Aug 5;8(31):eabn4886. doi: 10.1126/sciadv.abn4886. Epub 2022 Aug 3. Sci Adv. 2022. PMID: 35921412 Free PMC article.
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. Munye MM, et al. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28301481 Free PMC article.
CiliaCarta: An integrated and validated compendium of ciliary genes.
van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA. van Dam TJP, et al. PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019. PLoS One. 2019. PMID: 31095607 Free PMC article.
Mortality in patients with giant cell arteritis in Spain: results from the ARTESER registry.
Molina-Collada J, Domínguez-Álvaro M, Melero-González RB, de Miguel E, Silva-Díaz M, Valero Jaimes JA, González I, Sánchez Martín J, Narváez J, Calvet J, Casafont-Solé I, Román Ivorra JA, Labrada Arrabal S, Vasques Rocha M, Iñiguez CL, Bustabad Reyes MS, Campos Fernández C, Alcalde Villar M, Mas AJ, Blanco R; ARTESER Project Collaborative Group. Molina-Collada J, et al. Arthritis Res Ther. 2025 Jan 7;27(1):4. doi: 10.1186/s13075-024-03468-6. Arthritis Res Ther. 2025. PMID: 39773317
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