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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort… See abstract for full author list ➔ Asano T, et al. Among authors: flores c. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Genomic Analyses of Human European Diversity at the Southwestern Edge: Isolation, African Influence and Disease Associations in the Canary Islands.
Guillen-Guio B, Lorenzo-Salazar JM, González-Montelongo R, Díaz-de Usera A, Marcelino-Rodríguez I, Corrales A, Cabrera de León A, Alonso S, Flores C. Guillen-Guio B, et al. Among authors: flores c. Mol Biol Evol. 2018 Dec 1;35(12):3010-3026. doi: 10.1093/molbev/msy190. Mol Biol Evol. 2018. PMID: 30289472 Free PMC article.
Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands.
Fregel R, Ordóñez AC, Santana-Cabrera J, Cabrera VM, Velasco-Vázquez J, Alberto V, Moreno-Benítez MA, Delgado-Darias T, Rodríguez-Rodríguez A, Hernández JC, Pais J, González-Montelongo R, Lorenzo-Salazar JM, Flores C, Cruz-de-Mercadal MC, Álvarez-Rodríguez N, Shapiro B, Arnay M, Bustamante CD. Fregel R, et al. Among authors: flores c. PLoS One. 2019 Mar 20;14(3):e0209125. doi: 10.1371/journal.pone.0209125. eCollection 2019. PLoS One. 2019. PMID: 30893316 Free PMC article.
Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing.
Lorenzo-Salazar JM, Ma SF, Jou J, Hou PC, Guillen-Guio B, Allen RJ, Jenkins RG, Wain LV, Oldham JM, Noth I, Flores C. Lorenzo-Salazar JM, et al. Among authors: flores c. ERJ Open Res. 2019 Jun 10;5(2):00071-2019. doi: 10.1183/23120541.00071-2019. eCollection 2019 Apr. ERJ Open Res. 2019. PMID: 31205927 Free PMC article.
Admixture mapping of asthma in southwestern Europeans with North African ancestry influences.
Guillen-Guio B, Hernández-Beeftink T, Marcelino-Rodríguez I, Rodríguez-Pérez H, Lorenzo-Salazar JM, Espinilla-Peña M, Corrales A, Pino-Yanes M, Callero A, Perez-Rodriguez E, Villar J, González-Montelongo R, Flores C. Guillen-Guio B, et al. Among authors: flores c. Am J Physiol Lung Cell Mol Physiol. 2020 May 1;318(5):L965-L975. doi: 10.1152/ajplung.00344.2019. Epub 2020 Mar 18. Am J Physiol Lung Cell Mol Physiol. 2020. PMID: 32186396 Free article.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort… See abstract for full author list ➔ Zhang Q, et al. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19… See abstract for full author list ➔ Bastard P, et al. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996 Free PMC article.
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
Mendoza-Alvarez A, Muñoz-Barrera A, Rubio-Rodríguez LA, Marcelino-Rodriguez I, Corrales A, Iñigo-Campos A, Callero A, Perez-Rodriguez E, Garcia-Robaina JC, González-Montelongo R, Lorenzo-Salazar JM, Flores C. Mendoza-Alvarez A, et al. Among authors: flores c. J Med Internet Res. 2020 Oct 9;22(10):e19040. doi: 10.2196/19040. J Med Internet Res. 2020. PMID: 33034563 Free PMC article.
1,249 results