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Page 1
A persistent variant telomere sequence in a human pedigree.
Hinchie AM, Sanford SL, Loughridge KE, Sutton RM, Parikh AH, Gil Silva AA, Sullivan DI, Chun-On P, Morrell MR, McDyer JF, Opresko PL, Alder JK. Hinchie AM, et al. Among authors: gil silva aa. Nat Commun. 2024 Jun 1;15(1):4681. doi: 10.1038/s41467-024-49072-9. Nat Commun. 2024. PMID: 38824190 Free PMC article.
IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
Strauss T, Körholz J, Kuehn HS, Gil Silva AA, Taube F, Trautmann-Grill K, Stittrich A, Pietzsch L, Wiedemuth R, Wahn V, von Bernuth H, Rosenzweig SD, Fasshauer M, Krüger R, Schuetz C. Strauss T, et al. Among authors: gil silva aa. Front Pediatr. 2024 May 9;12:1345730. doi: 10.3389/fped.2024.1345730. eCollection 2024. Front Pediatr. 2024. PMID: 38813543 Free PMC article.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: gil silva aa. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
Rapid postmortem ventilation improves donor lung viability by extending the tolerable warm ischemic time after cardiac death in mice.
Yu J, Xu C, Lee JS, Alder JK, Wen Z, Wang G, Gil Silva AA, Sanchez PG, Pilewski JM, McDyer JF, Wang X. Yu J, et al. Among authors: gil silva aa. Am J Physiol Lung Cell Mol Physiol. 2021 Oct 1;321(4):L653-L662. doi: 10.1152/ajplung.00011.2021. Epub 2021 Jul 28. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 34318693 Free article.