학술논문

1 . Academic Journal

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

저자: by Alsina, L.; Colobran, R.; de Sevilla, M.F.; Català, A.; Viñas, L., et al.
소스: In Clinical Immunology August 2014 153(2):292-297

7 . Academic Journal

The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype.

저자: by Arcas‐García, A.; Garcia‐Prat, M.; Magallón‐Lorenz, M.; Martín‐Nalda, A.; Drechsel, O., et al.
소스: Clinical & Experimental Immunology. Apr2020, Vol. 200 Issue 1, p61-72. 12p. 2 Diagrams, 3 Charts, 2 Graphs.

7 . Academic Journal

ANTI-NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE AUTOANTIBODIES ARE ASSOCIATED WITH A NEW CLINICAL PHENOTYPE IN SYSTEMIC SCLEROSIS PATIENTS: LIMITED CUTANEOUS SUBSET WITH RECALCITRANT CALCINOSIS AND HIGHER RISK OF CANCER.

저자: by Perurena-Prieto, J.; Viñas-Giménez, L.; Sanz-Martínez, M. T.; Selva-O'callaghan, A.; Callejas-Moraga, E. L., et al.
소스: Annals of the Rheumatic Diseases; 2023 Supplement, Vol. 82, p1016-1017, 2p

7 .

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

저자: by Denomme-Pichon A. -S.; Bruel A. -L.; Duffourd Y.; Safraou H.; Thauvin-Robinet C., et al.
소스: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4

7 .

Whole genome sequencing reveals host factors underlying critical Covid-19

저자: by Kousathanas, A.; Pairo-Castineira, E.; Rawlik, K.; Stuckey, A.; Odhams, C. A., et al.
소스: Kousathanas, A, Pairo-Castineira, E, Rawlik, K, Stuckey, A, Odhams, C A, Walker, S, Russell, C D, Malinauskas, T, Wu, Y, Millar, J, Shen, X, Elliott, K S, Griffiths, F, Oosthuyzen, W, Morrice, K, Keating, S, Wang, B, Rhodes, D, Klaric, L, Zechner, M, Parkinson, N, Siddiq, A, Goddard, P, Donovan, S, Maslove, D, Nichol, A, Semple, M G, Zainy, T, Maleady-Crowe, F, Todd, L, Salehi, S, Knight, J, Elgar, G, Chan, G, Arumugam, P, Patch, C, Rendon, A, Bentley, D, Kingsley, C, Kosmicki, J A, Horowitz, J E, Baras, A, Abecasis, G R, Ferreira, M A R, Justice, A, Mirshahi, T, Oetjens, M, Rader, D J, Ritchie, M D, Verma, A, Fowler, T A, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D, Montgomery, H, Openshaw, P J M, Elliott, P, Walsh, T, Tenesa, A, Fawkes, A, Murphy, L, Rowan, K, Ponting, C P, Vitart, V, Wilson, J F, Yang, J, Bretherick, A D, Scott, R H, Hendry, S C, Moutsianas, L, Law, A & Caulfield, M J & Baillie, J K 2022, ' Whole genome sequencing reveals host factors underlying critical Covid-19 ', Nature, vol. 607, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
Nature, 607(7917), 97-103. Nature Publishing Group
GenOMICC Investigators, 23andMe & Covid-19 Human Genetics Initiative 2022, ' Whole genome sequencing reveals host factors underlying critical Covid-19 ', Nature . https://doi.org/10.1038/s41586-022-04576-6
Kousathanas, A, Nivard, M, de Geus, E, Bartels, M, Jan Hottenga, J, Baillie, J K, GenOMICC co-investigators, COVID-19 Human Genetics Initiative & 23andMe investigators 2022, ' Whole-genome sequencing reveals host factors underlying critical COVID-19 ', Nature, vol. 607, no. 7917, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
GenOMICC Investigators 2022, ' Whole-genome sequencing reveals host factors underlying critical COVID-19 ', Nature, vol. 607, no. 7917, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
NATURE

7 . Academic Journal

Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.

저자: by Franco‐Jarava, C.; Comas, D.; Orren, A.; Hernández‐González, M.; Colobran, R..
소스: Clinical & Experimental Immunology. Aug2017, Vol. 189 Issue 2, p226-231. 7p. 3 Charts, 1 Graph.

7 .

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

저자: by Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin, et al.
소스: Science Immunology
Science Immunology, 2021, 6 (62), pp.eabl4340. ⟨10.1126/sciimmunol.abl4340⟩
ISI atlas of science. Immunology 6 (2021). doi:10.1126/sciimmunol.abl4340
info:cnr-pdr/source/autori:Bastard P.; Gervais A.; Le Voyer T.; Rosain J.; Philippot Q.; Manry J.; Michailidis E.; Hoffmann H.-H.; Eto S.; Garcia-Prat M.; Bizien L.; Parra-Martinez A.; Yang R.; Haljasmagi L.; Migaud M.; Sarekannu K.; Maslovskaja J.; Prost N.D.; Tandjaoui-Lambiotte Y.; Luyt C.-E.; Amador-Borrero B.; Gaudet A.; Poissy J.; Morel P.; Richard P.; Cognasse F.; Troya J.; Trouillet-Assant S.; Belot A.; Saker K.; Garcon P.; Riviere J.G.; Lagier J.-C.; Gentile S.; Rosen L.B.; Shaw E.; Morio T.; Tanaka J.; Dalmau D.; Tharaux P.-L.; Sene D.; Stepanian A.; Megarbane B.; Triantafyllia V.; Fekkar A.; Heath J.R.; Franco J.L.; Anaya J.-M.; Sole-Violan J.; Imberti L.; Biondi A.; Bonfanti P.; Castagnoli R.; Delmonte O.M.; Zhang Y.; Snow A.L.; Holland S.M.; Biggs C.M.; Moncada-Velez M.; Arias A.A.; Lorenzo L.; Boucherit S.; Coulibaly B.; Anglicheau D.; Planas A.M.; Haerynck F.; Duvlis S.; Nussbaum R.L.; Ozcelik T.; Keles S.; Bousfiha A.A.; Bakkouri J.E.; Ramirez-Santana C.; Paul S.; Pan-Hammarstrom Q.; Hammarstrom L.; Dupont A.; Kurolap A.; Metz C.N.; Aiuti A.; Casari G.; Lampasona V.; Ciceri F.; Barreiros L.A.; Dominguez-Garrido E.; Vidigal M.; Zatz M.; Beek D.V.D.; Sahanic S.; Tancevski I.; Stepanovskyy Y.; Boyarchuk O.; Nukui Y.; Tsumura M.; Vidaur L.; Tangye S.G.; Burrel S.; Duffy D.; Quintana-Murci L.; Klocperk A.; Kann N.Y.; Shcherbina A.; Lau Y.-L.; Leung D.; Coulongeat M.; Marlet J.; Koning R.; Reyes L.F.; Chauvineau-Grenier A.; Venet F.; Monneret G.; Nussenzweig M.C.; Arrestier R.; Boudhabhay I.; Baris-Feldman H.; Hagin D.; Wauters J.; Meyts I.; Dyer A.H.; Kennelly S.P.; Bourke N.M.; Halwani R.; Sharif-Askari N.S.; Dorgham K.; Sallette J.; Sedkaoui S.M.; AlKhater S.; Rigo-Bonnin R.; Morandeira F.; Roussel L.; Vinh D.C.; Ostrowski S.R.; Condino-Neto A.; Prando C.; Bondarenko A.; Spaan A.N.; Gilardin L.; Fellay J.; Lyonnet S.; Bilguvar K.; Lifton R.P.; Mane S.; Anderson M.S.; Boisson B.; Beziat V.; Zhang S.-Y.; Andreakos E.; Hermine O.; Pujol A.; Peterson P.; Mogensen T.H.; Rowen L.; Mond J.; Debette S.; Lamballerie X.D.; Duval X.; Mentre F.; Zins M.; Soler-Palacin P.; Colobran R.; Gorochov G.; Solanich X.; Susen S.; Martinez-Picado J.; Raoult D.; Vasse M.; Gregersen P.K.; Piemonti L.; Rodriguez-Gallego C.; Notarangelo L.D.; Su H.C.; Kisand K.; Okada S.; Puel A.; Jouanguy E.; Rice C.M.; Tiberghien P.; Zhang Q.; Cobat A.; Abel L.; Casanova J.-L./titolo:Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths/doi:10.1126%2Fsciimmunol.abl4340/rivista:ISI atlas of science. Immunology/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:6
Science Immunology, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4340⟩
Science immunology, 6(62):eabl4340. American Association for the Advancement of Science
Dipòsit Digital de la UB
Universidad de Barcelona
Science Immunology, American Association for the Advancement of Science, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4340⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Bastard, P, Gervais, A, Le Voyer, T, Rosain, J, Philippot, Q, Manry, J, Michailidis, E, Hoffmann, H H, Eto, S, Garcia-Prat, M, Bizien, L, Parra-Martínez, A, Yang, R, Haljasmägi, L, Migaud, M, Särekannu, K, Maslovskaja, J, Prost, N D, Tandjaoui-Lambiotte, Y, Luyt, C E, Amador-Borrero, B, Gaudet, A, Poissy, J, Morel, P, Richard, P, Cognasse, F, Troya, J, Trouillet-Assant, S, Belot, A, Saker, K, Garçon, P, Rivière, J G, Lagier, J C, Gentile, S, Rosen, L B, Shaw, E, Morio, T, Tanaka, J, Dalmau, D, Tharaux, P L, Sene, D, Stepanian, A, Megarbane, B, Triantafyllia, V, Fekkar, A, Heath, J R, Franco, J L, Anaya, J M, Mogensen, T H, Casanova, J L, The Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank Investigators, COVID Human Genetic Effort, CONSTANCES cohort, 3C-Dijon Study, Cerba HealthCare, Etablissement du Sang study group, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James’s Hospital SARS CoV2 Interest group, French COVID Cohort Study Group & Imagine COVID Group 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science Immunology, vol. 6, no. 62, 4340 . https://doi.org/10.1126/sciimmunol.abl4340
Science immunology, vol. 6, no. 62, pp. eabl4340
French COVID Cohort Study Group, NIAID Immune Response to COVID Group, Danish CHGE, COVID Human Genetic Effort, HGID Lab, COVID-STORM Clinicians, NH-COVAIR Study Group, The Danish Blood Donor Study (DBDS), Imagine COVID-Group, The Milieu Intérieur Consortium, Amsterdam UMC Covid-19 Biobank, CONSTANCES cohort, 3C-Dijon Study, Cerba HealthCare, Etablissement du Sang study group, CoV-Contact Cohort, St James's Hospital, SARS CoV2 Interest group & COVID Clinicians 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science immunology, vol. 6, no. 62, eabl4340 . https://doi.org/10.1126/sciimmunol.abl4340
SCIENCE IMMUNOLOGY
COVID Human Genetic Effort, Imagine COVID-Group, Danish CHGE, CONSTANCES cohort, Etablissement du Sang study group, St James's Hospital, SARS CoV2 Interest group, 3C-Dijon Study, COVID Clinicians, CoV-Contact Cohort, NIAID Immune Response to COVID Group, Cerba HealthCare, French COVID Cohort Study Group, HGID Lab, COVID-STORM Clinicians, NH-COVAIR Study Group, The Danish Blood Donor Study (DBDS), The Milieu Intérieur Consortium & Amsterdam UMC Covid-19 Biobank 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science immunology, vol. 6, no. 62, eabl4340 . https://doi.org/10.1126/sciimmunol.abl4340, https://doi.org/10.1126/sciimmunol.abl4340
Digital.CSIC. Repositorio Institucional del CSIC
instname

7 .

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

저자: by Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada-Velez, Marcela, et al.
소스: Science immunology, Vol. 6, no.62, p. e (2021)
Science immunology, 6(62):eabl4348. American Association for the Advancement of Science
Science Immunology
Science Immunology, American Association for the Advancement of Science, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4348⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Science Immunology, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4348⟩
SCIENCE IMMUNOLOGY
ISI atlas of science. Immunology 6 (2021). doi:10.1126/sciimmunol.abl4348
info:cnr-pdr/source/autori:Asano T.; Boisson B.; Onodi F.; Matuozzo D.; Moncada-Velez M.; Renkilaraj M.R.L.M.; Zhang P.; Meertens L.; Bolze A.; Materna M.; Korniotis S.; Gervais A.; Talouarn E.; Bigio B.; Seeleuthner Y.; Bilguvar K.; Zhang Y.; Neehus A.-L.; Ogishi M.; Pelham S.J.; Le Voyer T.; Rosain J.; Philippot Q.; Soler-Palacin P.; Colobran R.; Martin-Nalda A.; Riviere J.G.; Tandjaoui-Lambiotte Y.; Chaibi K.; Shahrooei M.; Darazam I.A.; Olyaei N.A.; Mansouri D.; Hatipoglu 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 J.L.; Rojas J.; Reyes L.F.; Bustos I.G.; Arias A.A.; Morelle G.; Kyheng C.; Troya J.; Planas-Serra L.; Schluter A.; Gut M.; Pujol A.; Allende L.M.; Rodriguez-Gallego C.; Flores C.; Cabrera-Marante O.; Pleguezuelo D.E.; Diego R.P.D.; Keles S.; Aytekin G.; Akcan O.M.; Bryceson Y.T.; Bergman P.; Brodin P.; Smole D.; Smith C.I.E.; Norlin A.-C.; Campbell T.M.; Covill L.E.; Hammarstrom L.; Pan-Hammarstrom Q.; Abolhassani H.; Mane S.; Marr N.; Ata M.; Ali F.A.; Khan T.; Spaan A.N.; Dalgard C.L.; Bonfanti P.; Biondi A.; Tubiana S.; Burdet C.; Nussbaum R.; Kahn-Kirby A.; Snow A.L.; Bustamante J.; Puel A.; Boisson-Dupuis S.; Zhang S.-Y.; Beziat V.; Lifton R.P.; Bastard P.; Notarangelo L.D.; Abel L.; Su H.C.; Jouanguy E.; Amara A.; Soumelis V.; Cobat A.; Zhang Q.; Casanova J.-L./titolo:X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19/doi:10.1126%2Fsciimmunol.abl4348/rivista:ISI atlas of science. Immunology/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:6
Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Maglorius Renkilaraj, M R L, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, A-L, Ogishi, M, Pelham, S J, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacín, P, Colobran, R, Martin-Nalda, A, Rivière, J G, Tandjaoui-Lambiotte, Y, Chaïbi, K, Shahrooei, M, Darazam, I A, Olyaei, N A, 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, J L, Rojas, J, Reyes, L F, Bustos, I G, Arias, A A, Morelle, G, Christèle, K, Troya, J, Planas-Serra, L, Schlüter, A, Gut, M, Pujol, A, Allende, L M, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, D E, de Diego, R P, Keles, S, Aytekin, G, Akcan, O M, Bryceson, Y T, Bergman, P, Brodin, P, Smole, D, Smith, C I E, Norlin, A-C, Campbell, T M, Covill, L E, Hammarström, L, Pan-Hammarström, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, A N, Dalgard, C L, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, A L, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, S-Y, Béziat, V, Lifton, R P, Bastard, P, Notarangelo, L D, Abel, L, Su, H C, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, J-L, COVID Human Genetic Effort, Amsterdam UMC Covid-19 Biobank & Bugiani, M 2021, ' X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 ', Science immunology, vol. 6, no. 62, eabl4348 . https://doi.org/10.1126/sciimmunol.abl4348
Sci Immunol
Science immunology, Vol. 6, no. 62 (2021) (2021)
Boisson, Bertrand

7 . Academic Journal

Type 1 Diabetes and Graves’ disease transcriptomic analysis show common contributing disease pathways

저자: by Ruiz, M.; Planas, R.; Colobran, R.; Marín, A.; Vives, M., et al.
소스: In New BIOTECHNOLOGY April 2010 27 Supplement 1:S51-S51

7 .

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

저자: by Baldassarri M.; Picchiotti N.; Fava F.; Fallerini C.; Benetti E., et al.
소스: Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
EBioMedicine, Vol 65, Iss, Pp 103246-(2021)
EBioMedicine

Open Access (OpenAIRE)

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