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Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, De Arruda Saldanha C, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V; Alnylam Human Genetics; AMP-T2D Consortium; Flannick J, Peloso GM, Gordts PLSM, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia AR. DeForest N, et al. Among authors: heinz s. Cell Genom. 2023 May 30;3(7):100339. doi: 10.1016/j.xgen.2023.100339. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492105 Free PMC article.
Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium.
Williams BL, Seager NA, Gardiner JD, Pappas CM, Cronin MC, Amat di San Filippo C, Anstadt RA, Liu J, Toso MA, Nichols L, Parnell TJ, Eve JR, Heinz S, Hayes MGB, Bartel PL, Zouache MA, Richards BT, Hageman GS. Williams BL, et al. Among authors: heinz s. Proc Natl Acad Sci U S A. 2021 Jul 27;118(30):e2103617118. doi: 10.1073/pnas.2103617118. Proc Natl Acad Sci U S A. 2021. PMID: 34301870 Free PMC article.
RREB1 regulates neuronal proteostasis and the microtubule network.
Griffin EN, Jucius T, Sim SE, Harris BS, Heinz S, Ackerman SL. Griffin EN, et al. Among authors: heinz s. Sci Adv. 2024 Jan 12;10(2):eadh3929. doi: 10.1126/sciadv.adh3929. Epub 2024 Jan 10. Sci Adv. 2024. PMID: 38198538 Free PMC article.
Compassionate Use of Reslizumab in a Life-threatening Asthma Exacerbation.
Granda P, Villamañán E, Heinz S, Laorden D, Romero D, Añón JM, Carpio C, Sobrino C, Collada V, Domínguez-Ortega J, Herrero A, Quirce S, Álvarez-Sala R. Granda P, et al. Among authors: heinz s. J Investig Allergol Clin Immunol. 2024 Feb 23;34(1):60-61. doi: 10.18176/jiaci.0920. Epub 2023 Jun 21. J Investig Allergol Clin Immunol. 2024. PMID: 37357596 Free article. No abstract available.
136 results