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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.
Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis.
Ünlüsoy Aksu A, Das SK, Nelson-Williams C, Jain D, Özbay Hoşnut F, Evirgen Şahin G, Lifton RP, Vilarinho S. Ünlüsoy Aksu A, et al. Among authors: vilarinho s. Hepatol Commun. 2019 Feb 13;3(4):471-477. doi: 10.1002/hep4.1320. eCollection 2019 Apr. Hepatol Commun. 2019. PMID: 30976738 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.
Genomic medicine for liver disease.
Zheng M, Allington G, Vilarinho S. Zheng M, et al. Among authors: vilarinho s. Hepatology. 2022 Sep;76(3):860-868. doi: 10.1002/hep.32364. Epub 2022 Feb 21. Hepatology. 2022. PMID: 35076957 Free PMC article. Review. No abstract available.
58 results