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2006 4
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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, Al Amrani F, 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. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
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. medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862. medRxiv. 2023. PMID: 36945405 Free PMC article. Updated. Preprint.
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. 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.
Cronos Titin Is Expressed in Human Cardiomyocytes and Necessary for Normal Sarcomere Function.
Zaunbrecher RJ, Abel AN, Beussman K, Leonard A, von Frieling-Salewsky M, Fields PA, Pabon L, Reinecke H, Yang X, Macadangdang J, Kim DH, Linke WA, Sniadecki NJ, Regnier M, Murry CE. Zaunbrecher RJ, et al. Circulation. 2019 Nov 12;140(20):1647-1660. doi: 10.1161/CIRCULATIONAHA.119.039521. Epub 2019 Oct 7. Circulation. 2019. PMID: 31587567 Free PMC article.
Absence of full-length dystrophin impairs normal maturation and contraction of cardiomyocytes derived from human-induced pluripotent stem cells.
Pioner JM, Guan X, Klaiman JM, Racca AW, Pabon L, Muskheli V, Macadangdang J, Ferrantini C, Hoopmann MR, Moritz RL, Kim DH, Tesi C, Poggesi C, Murry CE, Childers MK, Mack DL, Regnier M. Pioner JM, et al. Cardiovasc Res. 2020 Feb 1;116(2):368-382. doi: 10.1093/cvr/cvz109. Cardiovasc Res. 2020. PMID: 31049579 Free PMC article.
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C; University of Washington Center for Mendelian Genomics; Bamshad MJ, Lessel D. Said E, et al. Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884921 Free PMC article.
Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Pioner JM, Racca AW, Klaiman JM, Yang KC, Guan X, Pabon L, Muskheli V, Zaunbrecher R, Macadangdang J, Jeong MY, Mack DL, Childers MK, Kim DH, Tesi C, Poggesi C, Murry CE, Regnier M. Pioner JM, et al. Stem Cell Reports. 2016 Jun 14;6(6):885-896. doi: 10.1016/j.stemcr.2016.04.006. Epub 2016 May 5. Stem Cell Reports. 2016. PMID: 27161364 Free PMC article.
34 results