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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: billington cj jr. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. doi: 10.1161/JAHA.123.031377. Epub 2024 Jan 31. J Am Heart Assoc. 2024. PMID: 38293922 Free PMC article.
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure.
Tsang KM, Knutsen RH, Billington CJ Jr, Lindberg E, Steenbock H, Fu YP, Wardlaw-Pickett A, Liu D, Malide D, Yu ZX, Bleck CKE, Brinckmann J, Kozel BA. Tsang KM, et al. Among authors: billington cj jr. Int J Mol Sci. 2022 Jun 17;23(12):6749. doi: 10.3390/ijms23126749. Int J Mol Sci. 2022. PMID: 35743192 Free PMC article.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Davids M, et al. Among authors: billington cj jr. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10. Mol Genet Metab. 2020. PMID: 32165008 Free PMC article.
19 results