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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
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.
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.
57 results