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Page 1
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.
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. Among authors: hernandez hernandez v. 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.
Sex-specific impact of inflammation on traditional cardiovascular risk factors and atherosclerosis in axial spondyloarthritis. A multicentre study of 913 patients.
Ferraz-Amaro I, Genre F, Blanco R, Calvo-Rio V, Corrales-Selaya C, Portilla V, Aurrecoechea E, Batanero R, Hernández-Hernández V, Quevedo-Abeledo JC, Rodríguez-Lozano C, López-Medina C, Ladehesa-Pineda L, Castañeda S, Vicente-Rabaneda EF, Fernández-Carballido C, Martínez Vidal MP, Castro Corredor D, Anino Fernández J, Peiteado D, Plasencia-Rodriguez C, Expósito R, Garcia Vivar ML, Galíndez-Agirregoikoa E, Vegas N, Urionagüena I, Montes-Perez E, Gonzalez-Gay MA, Rueda-Gotor J. Ferraz-Amaro I, et al. Among authors: hernandez hernandez v. RMD Open. 2024 Jun 28;10(2):e004187. doi: 10.1136/rmdopen-2024-004187. RMD Open. 2024. PMID: 38942590 Free PMC article.
51 results