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A novel splice-site mutation in angiotensin I-converting enzyme (ACE) gene, c.3691+1G>A (IVS25+1G>A), causes a dramatic increase in circulating ACE through deletion of the transmembrane anchor.
Persu A, Lambert M, Deinum J, Cossu M, de Visscher N, Irenge L, Ambroise J, Minon JM, Nesterovitch AB, Churbanov A, Popova IA, Danilov SM, Danser AH, Gala JL. Persu A, et al. Among authors: danilov sm. PLoS One. 2013;8(4):e59537. doi: 10.1371/journal.pone.0059537. Epub 2013 Apr 1. PLoS One. 2013. PMID: 23560051 Free PMC article.
Novel ACE mutations mimicking sarcoidosis by increasing blood ACE levels.
Danilov SM, Jain MS, Petukhov PA, Goldman C, DiSanto-Rose M, Vancavage R, Francuzevitch LY, Samokhodskaya LM, Kamalov AA, Arbieva ZH, Sturrock ED, Dudek SM, Judson MA. Danilov SM, et al. Transl Res. 2021 Apr;230:5-20. doi: 10.1016/j.trsl.2020.07.010. Epub 2020 Jul 26. Transl Res. 2021. PMID: 32726712
Epitope mapping of novel monoclonal antibodies to human angiotensin I-converting enzyme.
Popova IA, Lubbe L, Petukhov PA, Kalantarov GF, Trakht IN, Chernykh ER, Leplina OY, Lyubimov AV, Garcia JGN, Dudek SM, Sturrock ED, Danilov SM. Popova IA, et al. Among authors: danilov sm. Protein Sci. 2021 Aug;30(8):1577-1593. doi: 10.1002/pro.4091. Epub 2021 May 11. Protein Sci. 2021. PMID: 33931897 Free PMC article.
147 results