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Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
Korol CB, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis S, Brancale J, Neehus AL, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova JL, Jouanguy E. Korol CB, et al. Among authors: vilarinho s. J Clin Immunol. 2023 Feb;43(2):406-420. doi: 10.1007/s10875-022-01376-5. Epub 2022 Oct 29. J Clin Immunol. 2023. PMID: 36308662 Free PMC article.
Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.
Yutuc E, Dickson AL, Pacciarini M, Griffiths L, Baker PRS, Connell L, Öhman A, Forsgren L, Trupp M, Vilarinho S, Khalil Y, Clayton PT, Sari S, Dalgic B, Höflinger P, Schöls L, Griffiths WJ, Wang Y. Yutuc E, et al. Among authors: vilarinho s. Anal Chim Acta. 2021 Apr 15;1154:338259. doi: 10.1016/j.aca.2021.338259. Epub 2021 Feb 4. Anal Chim Acta. 2021. PMID: 33736801 Free PMC article.
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Ünlüsoy Aksu A, Evirgen Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. Drzewiecki K, et al. Among authors: vilarinho s. J Exp Med. 2021 Jul 5;218(7):e20201745. doi: 10.1084/jem.20201745. Epub 2021 May 6. J Exp Med. 2021. PMID: 33956074 Free PMC article.
A single cell gene expression atlas of 28 human livers.
Brancale J, Vilarinho S. Brancale J, et al. Among authors: vilarinho s. J Hepatol. 2021 Jul;75(1):219-220. doi: 10.1016/j.jhep.2021.03.005. Epub 2021 May 18. J Hepatol. 2021. PMID: 34016468 Free PMC article.
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Ogishi M, et al. Among authors: vilarinho s. Nat Med. 2021 Sep;27(9):1646-1654. doi: 10.1038/s41591-021-01388-5. Epub 2021 Jun 28. Nat Med. 2021. PMID: 34183838 Free PMC article.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su HC, Lenardo MJ. Park AY, et al. Among authors: vilarinho s. Nat Immunol. 2024 Feb;25(2):282-293. doi: 10.1038/s41590-023-01691-y. Epub 2024 Jan 3. Nat Immunol. 2024. PMID: 38172257
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Ghouse J, et al. Among authors: vilarinho s. Nat Genet. 2024 May;56(5):827-837. doi: 10.1038/s41588-024-01720-y. Epub 2024 Apr 17. Nat Genet. 2024. PMID: 38632349 Free PMC article.
57 results