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Page 1
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: astudillo c. Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38177409
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: astudillo c. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
Humoral and cellular response induced by a second booster of an inactivated SARS-CoV-2 vaccine in adults.
Méndez C, Peñaloza HF, Schultz BM, Piña-Iturbe A, Ríos M, Moreno-Tapia D, Pereira-Sánchez P, Leighton D, Orellana C, Covarrubias C, Gálvez NMS, Soto JA, Duarte LF, Rivera-Pérez D, Vázquez Y, Cabrera A, Bustos S, Iturriaga C, Urzua M, Navarrete MS, Rojas Á, Fasce RA, Fernández J, Mora J, Ramírez E, Gaete-Argel A, Acevedo M, Valiente-Echeverría F, Soto-Rifo R, Weiskopf D, Grifoni A, Sette A, Zeng G, Meng W; CoronaVac03CL Study Group; González-Aramundiz JV, González PA, Abarca K, Melo-González F, Bueno SM, Kalergis AM. Méndez C, et al. EBioMedicine. 2023 May;91:104563. doi: 10.1016/j.ebiom.2023.104563. Epub 2023 Apr 24. EBioMedicine. 2023. PMID: 37099842 Free PMC article.
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C).
Redmond CJ, Kitakule MM, Son A, Sylvester M, Sacco K, Delmonte O, Licciardi F, Castagnoli R, Poli MC, Espinoza Y, Astudillo C, Weber SE, Montealegre Sanchez GA, Barron KS, Magliocco M, Dobbs K, Zhang Y, Matthews H, Oguz C, Su HC, Notarangelo LD, Frischmeyer-Guerrerio P, Schwartz DM. Redmond CJ, et al. Among authors: astudillo c. Ann Rheum Dis. 2023 Mar;82(3):442-445. doi: 10.1136/ard-2022-223269. Epub 2022 Nov 24. Ann Rheum Dis. 2023. PMID: 36424123 Free PMC article. No abstract available.
Trypanosoma cruzi pathogenicity involves virulence factor expression and upregulation of bioenergetic and biosynthetic pathways.
San Francisco J, Astudillo C, Vega JL, Catalán A, Gutiérrez B, Araya JE, Zailberger A, Marina A, García C, Sanchez N, Osuna A, Vilchez S, Ramírez MI, Macedo J, Feijoli VS, Palmisano G, González J. San Francisco J, et al. Among authors: astudillo c. Virulence. 2022 Dec;13(1):1827-1848. doi: 10.1080/21505594.2022.2132776. Virulence. 2022. PMID: 36284085 Free PMC article.
Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort.
Rey-Jurado E, Espinosa Y, Astudillo C, Jimena Cortés L, Hormazabal J, Noguera LP, Cofré F, Piñera C, González R, Bataszew A, Muñoz Venturelli P, Benadof D, Álvarez P, Acevedo V, Vial P, Vial C, Poli MC. Rey-Jurado E, et al. Among authors: astudillo c. J Allergy Clin Immunol. 2022 Nov;150(5):1074-1085.e11. doi: 10.1016/j.jaci.2022.09.006. Epub 2022 Sep 15. J Allergy Clin Immunol. 2022. PMID: 36116582 Free PMC article.
GARFIELD-AF: risk profiles, treatment patterns and 2-year outcomes in patients with atrial fibrillation in Germany, Austria and Switzerland (DACH) compared to 32 countries in other regions worldwide.
Haas S, Camm JA, Harald D, Steffel J, Virdone S, Pieper K, Brodmann M, Schellong S, Misselwitz F, Kayani G, Kakkar AK; GARFIELD-AF Investigators. Haas S, et al. Clin Res Cardiol. 2023 Jun;112(6):759-771. doi: 10.1007/s00392-022-02079-y. Epub 2022 Sep 12. Clin Res Cardiol. 2023. PMID: 36094573
56 results