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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Among authors: janssen pml. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.
Response to Hall et al.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw D, Janssen PM; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2020 Dec 3;107(6):1188-1189. doi: 10.1016/j.ajhg.2020.11.006. Am J Hum Genet. 2020. PMID: 33275912 Free PMC article. No abstract available.
Amino terminus of cardiac myosin binding protein-C regulates cardiac contractility.
Lynch TL 4th, Kumar M, McNamara JW, Kuster DWD, Sivaguru M, Singh RR, Previs MJ, Lee KH, Kuffel G, Zilliox MJ, Lin BL, Ma W, Gibson AM, Blaxall BC, Nieman ML, Lorenz JN, Leichter DM, Leary OP, Janssen PML, de Tombe PP, Gilbert RJ, Craig R, Irving T, Warshaw DM, Sadayappan S. Lynch TL 4th, et al. Among authors: janssen pml. J Mol Cell Cardiol. 2021 Jul;156:33-44. doi: 10.1016/j.yjmcc.2021.03.009. Epub 2021 Mar 26. J Mol Cell Cardiol. 2021. PMID: 33781820 Free PMC article.
Etiology-dependent impairment of relaxation kinetics in right ventricular end-stage failing human myocardium.
Chung JH, Martin BL, Canan BD, Elnakish MT, Milani-Nejad N, Saad NS, Repas SJ, Schultz JEJ, Murray JD, Slabaugh JL, Gearinger RL, Conkle J, Karaze T, Rastogi N, Chen MP, Crecelius W, Peczkowski KK, Ziolo MT, Fedorov VV, Kilic A, Whitson BA, Higgins RSD, Smith SA, Mohler PJ, Binkley PF, Janssen PML. Chung JH, et al. Among authors: janssen pml. J Mol Cell Cardiol. 2018 Aug;121:81-93. doi: 10.1016/j.yjmcc.2018.07.005. Epub 2018 Jul 5. J Mol Cell Cardiol. 2018. PMID: 29981798 Free PMC article.
211 results