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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. Among authors: regnier m. medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862. medRxiv. 2023. Update in: HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213 PMID: 36945405 Free PMC article. Updated. Preprint.
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. Beck AE, et al. Among authors: regnier m. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401156 Free PMC article.
Contractility and kinetics of human fetal and human adult skeletal muscle.
Racca AW, Beck AE, Rao VS, Flint GV, Lundy SD, Born DE, Bamshad MJ, Regnier M. Racca AW, et al. Among authors: regnier m. J Physiol. 2013 Jun 15;591(12):3049-61. doi: 10.1113/jphysiol.2013.252650. Epub 2013 Apr 29. J Physiol. 2013. PMID: 23629510 Free PMC article.
Contractile properties of developing human fetal cardiac muscle.
Racca AW, Klaiman JM, Pioner JM, Cheng Y, Beck AE, Moussavi-Harami F, Bamshad MJ, Regnier M. Racca AW, et al. Among authors: regnier m. J Physiol. 2016 Jan 15;594(2):437-52. doi: 10.1113/JP271290. Epub 2015 Dec 7. J Physiol. 2016. PMID: 26460603 Free PMC article.
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. Zieba J, et al. Among authors: regnier m. Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803. Sci Rep. 2017. PMID: 28205584 Free PMC article.
Modulation of post-powerstroke dynamics in myosin II by 2'-deoxy-ADP.
Childers MC, Geeves M, Daggett V, Regnier M. Childers MC, et al. Among authors: regnier m. Arch Biochem Biophys. 2021 Mar 15;699:108733. doi: 10.1016/j.abb.2020.108733. Epub 2020 Dec 31. Arch Biochem Biophys. 2021. PMID: 33388313 Free PMC article.
Conformational sampling of CMT-2D associated GlyRS mutations.
Childers MC, Regnier M, Bothwell M, Smith AST. Childers MC, et al. Among authors: regnier m. Brain Multiphys. 2022;3:100054. doi: 10.1016/j.brain.2022.100054. Epub 2022 Sep 6. Brain Multiphys. 2022. PMID: 36504507 Free PMC article.
373 results