{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:09:40Z","timestamp":1791284980640,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":1290,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["K08 AR059750"],"award-info":[{"award-number":["K08 AR059750"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 HD075802"],"award-info":[{"award-number":["R01 HD075802"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 AR044435"],"award-info":[{"award-number":["R01 AR044435"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["8UL1 TR000055"],"award-info":[{"award-number":["8UL1 TR000055"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","ajp.amjpathol.org","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2016,6]]},"DOI":"10.1016\/j.ajpath.2016.02.008","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T07:06:55Z","timestamp":1461308815000},"page":"1568-1581","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy"],"prefix":"10.1016","volume":"186","author":[{"given":"Jennifer","family":"Tinklenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fujun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond G.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahua","family":"Dasgupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth P.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edna C.","family":"Hardeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Scott","family":"Pearsall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Fitts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Lawlor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajpath.2016.02.008_bib1","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1136\/jmg.34.9.705","article-title":"Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy","volume":"34","author":"North","year":"1997","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib2","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.spen.2011.10.004","article-title":"Nemaline myopathies","volume":"18","author":"Wallgren-Pettersson","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib3","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1016\/j.ajhg.2013.10.020","article-title":"Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy","volume":"93","author":"Gupta","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2013.05.004","article-title":"Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy","volume":"93","author":"Ravenscroft","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib5","doi-asserted-by":"crossref","first-page":"4693","DOI":"10.1172\/JCI75199","article-title":"Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy","volume":"124","author":"Yuen","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ajpath.2016.02.008_bib6","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/S1471-4914(01)02089-5","article-title":"Clinical and genetic heterogeneity in nemaline myopathy\u2013a disease of skeletal muscle thin filaments","volume":"7","author":"Sanoudou","year":"2001","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.ajpath.2016.02.008_bib7","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1172\/JCI74994","article-title":"KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy","volume":"124","author":"Garg","year":"2014","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.ajpath.2016.02.008_bib8","series-title":"Muscle Biopsy: A Practical Approach","first-page":"358","article-title":"Congenital myopathies and related disorders","author":"Dubowitz","year":"2013"},{"key":"10.1016\/j.ajpath.2016.02.008_bib9","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/S0387-7604(01)00213-3","article-title":"The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders","volume":"23","author":"Imoto","year":"2001","journal-title":"Brain Dev"},{"key":"10.1016\/j.ajpath.2016.02.008_bib10","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/ana.21308","article-title":"Mutations in TPM3 are a common cause of congenital fiber type disproportion","volume":"63","author":"Clarke","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib11","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/humu.21157","article-title":"Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion","volume":"31","author":"Lawlor","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ajpath.2016.02.008_bib12","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1083\/jcb.200207056","article-title":"Myostatin negatively regulates satellite cell activation and self-renewal","volume":"162","author":"McCroskery","year":"2003","journal-title":"J Cell Biol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib13","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1016\/j.yexcr.2006.04.012","article-title":"Myostatin regulation of muscle development: molecular basis, natural mutations, physiopathological aspects","volume":"312","author":"Joulia-Ekaza","year":"2006","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.ajpath.2016.02.008_bib14","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajpath.2010.10.035","article-title":"Inhibition of activin receptor type IIb increases strength and lifespan in myotubularin-deficient mice","volume":"178","author":"Lawlor","year":"2011","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib15","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1016\/j.ajpath.2014.03.003","article-title":"Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice","volume":"184","author":"Lawlor","year":"2014","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib16","doi-asserted-by":"crossref","first-page":"30889","DOI":"10.1074\/jbc.M109.049718","article-title":"Nebulin alters cross-bridge cycling kinetics and\u00a0increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost","volume":"284","author":"Chandra","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2016.02.008_bib17","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/S0960-8966(02)00138-4","article-title":"Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths","volume":"12","author":"de Haan","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ajpath.2016.02.008_bib18","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1093\/brain\/awr274","article-title":"Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy","volume":"134","author":"Nguyen","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.ajpath.2016.02.008_bib19","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1093\/brain\/awr004","article-title":"Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies","volume":"134","author":"Ravenscroft","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.ajpath.2016.02.008_bib20","doi-asserted-by":"crossref","first-page":"3843","DOI":"10.1038\/sj.emboj.7601242","article-title":"Nebulin regulates thin filament length, contractility, and Z-disk structure in\u00a0vivo","volume":"25","author":"Witt","year":"2006","journal-title":"EMBO J"},{"key":"10.1016\/j.ajpath.2016.02.008_bib21","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.jsb.2009.11.013","article-title":"Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)","volume":"170","author":"Ottenheijm","year":"2010","journal-title":"J Struct Biol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib22","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1093\/hmg\/ddr084","article-title":"Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy","volume":"20","author":"Ottenheijm","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib23","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1093\/hmg\/ddp168","article-title":"Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency","volume":"18","author":"Ottenheijm","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib24","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1152\/jappl.1986.60.5.1743","article-title":"Effect of high-intensity exercise training on functional capacity of limb skeletal muscle","volume":"60","author":"Troup","year":"1986","journal-title":"J Appl Physiol (1985)"},{"key":"10.1016\/j.ajpath.2016.02.008_bib25","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1152\/japplphysiol.00516.2002","article-title":"Hindlimb unloading-induced muscle atrophy and loss of function: protective effect of isometric exercise","volume":"95","author":"Hurst","year":"2003","journal-title":"J Appl Physiol (1985)"},{"key":"10.1016\/j.ajpath.2016.02.008_bib26","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1212\/WNL.19.6.591","article-title":"The histographic analysis of human muscle biopsies with regard to fiber types, 4: children's biopsies","volume":"19","author":"Brooke","year":"1969","journal-title":"Neurology"},{"key":"10.1016\/j.ajpath.2016.02.008_bib27","doi-asserted-by":"crossref","first-page":"140ra88","DOI":"10.1126\/scitranslmed.3003679","article-title":"Oxygen gas-filled microparticles provide intravenous oxygen delivery","volume":"4","author":"Kheir","year":"2012","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.ajpath.2016.02.008_bib28","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1096\/fj.12-212688","article-title":"Selenoprotein N deficiency in mice is associated with abnormal lung development","volume":"27","author":"Moghadaszadeh","year":"2013","journal-title":"FASEB J"},{"key":"10.1016\/j.ajpath.2016.02.008_bib29","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1212\/WNL.59.4.613","article-title":"Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy","volume":"59","author":"Wattanasirichaigoon","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.ajpath.2016.02.008_bib30","series-title":"ImageJ","author":"Rasband","year":"1997"},{"key":"10.1016\/j.ajpath.2016.02.008_bib31","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.abb.2014.09.011","article-title":"Sexually dimorphic myofilament function in a mouse model of nemaline myopathy","volume":"564","author":"Lindqvist","year":"2014","journal-title":"Arch Biochem Biophys"},{"key":"10.1016\/j.ajpath.2016.02.008_bib32","series-title":"Pathology of the Mouse","first-page":"235","article-title":"Ureter, Uninary Bladder, and Urethra","author":"Gaillard","year":"1999"},{"key":"10.1016\/j.ajpath.2016.02.008_bib33","series-title":"Comparative Anatomy and Histology: A Mouse and Human Atlas","first-page":"285","article-title":"Male Reproductive System","author":"Knoblaugh","year":"2012"},{"key":"10.1016\/j.ajpath.2016.02.008_bib34","doi-asserted-by":"crossref","first-page":"18763","DOI":"10.1073\/pnas.0900705106","article-title":"T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase","volume":"106","author":"Al-Qusairi","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2016.02.008_bib35","doi-asserted-by":"crossref","first-page":"e1000372","DOI":"10.1371\/journal.pgen.1000372","article-title":"Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy","volume":"5","author":"Dowling","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib36","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1093\/hmg\/ddt003","article-title":"Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy","volume":"22","author":"Lawlor","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib37","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1113\/jphysiol.2013.268177","article-title":"Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibers and decreases tolerance to fatigue","volume":"592","author":"Wei","year":"2014","journal-title":"J Physiol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib38","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1093\/hmg\/dds053","article-title":"Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance","volume":"21","author":"Agrawal","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib39","doi-asserted-by":"crossref","first-page":"2633","DOI":"10.1093\/hmg\/ddh285","article-title":"Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism","volume":"13","author":"Joya","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib40","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1086\/320605","article-title":"Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene","volume":"68","author":"Ilkovski","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajpath.2016.02.008_bib41","doi-asserted-by":"crossref","first-page":"79","DOI":"10.5115\/acb.2012.45.2.79","article-title":"Reappraisal of intergender differences in the urethral striated sphincter explains why a completely circular arrangement is difficult in females: a histological study using human fetuses","volume":"45","author":"Masumoto","year":"2012","journal-title":"Anat Cell Biol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib42","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1016\/S0022-5347(01)64401-X","article-title":"Smooth and striated muscle development in the intrinsic urethral sphincter","volume":"158","author":"Borirakchanyavat","year":"1997","journal-title":"J Urol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib43","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.juro.2010.03.110","article-title":"Prominent expression of phosphodiesterase 5 in striated muscle of the rat urethra and levator ani","volume":"184","author":"Lin","year":"2010","journal-title":"J Urol"},{"key":"10.1016\/j.ajpath.2016.02.008_bib44","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1097\/NEN.0b013e318293b1cc","article-title":"Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy","volume":"72","author":"Lindqvist","year":"2013","journal-title":"J Neuropathol Exp Neurol"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944016300219?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944016300219?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T19:49:50Z","timestamp":1617220190000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944016300219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["S0002944016300219"],"URL":"https:\/\/doi.org\/10.1016\/j.ajpath.2016.02.008","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.726306489.793553472","asserted-by":"object"}]},"ISSN":["0002-9440"],"issn-type":[{"value":"0002-9440","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajpath.2016.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}