{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:48:14Z","timestamp":1791316094817,"version":"4.3.1"},"reference-count":98,"publisher":"The Company of Biologists","issue":"7","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"content-version":"vor","delay-in-days":3026,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,7,15]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Paired-like homeodomain transcription factor 1 (PITX1) was specifically up-regulated in patients with facioscapulohumeral muscular dystrophy (FSHD) by comparing the genome-wide mRNA expression profiles of 12 neuromuscular disorders. In addition, it is the only known direct transcriptional target of the double homeobox protein 4 (DUX4) of which aberrant expression has been shown to be the cause of FSHD. To test the hypothesis that up-regulation of PITX1 contributes to the skeletal muscle atrophy seen in patients with FSHD, we generated a tet-repressible muscle-specific Pitx1 transgenic mouse model in which expression of PITX1 in skeletal muscle can be controlled by oral administration of doxycycline. After PITX1 was over-expressed in the skeletal muscle for 5 weeks, the mice exhibited significant loss of body weight and muscle mass, decreased muscle strength, and reduction of muscle fiber diameters. Among the muscles examined, the tibialis anterior, gastrocnemius, quadricep, bicep, tricep and deltoid showed significant reduction of muscle mass, while the soleus, masseter and diaphragm muscles were not affected. The most prominent pathological change was the development of atrophic muscle fibers with mild necrosis and inflammatory infiltration. The affected myofibers stained heavily with NADH-TR with the strongest staining in angular-shaped atrophic fibers. Some of the atrophic fibers were also positive for embryonic myosin heavy chain using immunohistochemistry. Immunoblotting showed that the p53 was up-regulated in the muscles over-expressing PITX1. The results suggest that the up-regulation of PITX1 followed by activation of p53-dependent pathways may play a major role in the muscle atrophy developed in the mouse model.<\/jats:p>","DOI":"10.1242\/bio.20121305","type":"journal-article","created":{"date-parts":[[2012,5,26]],"date-time":"2012-05-26T04:24:49Z","timestamp":1338006289000},"page":"629-639","source":"Crossref","is-referenced-by-count":53,"title":["Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice"],"prefix":"10.1242","volume":"1","author":[{"given":"Sachchida N.","family":"Pandey","sequence":"first","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Cabotage","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongye","family":"Shi","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjusha","family":"Dixit","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margret","family":"Sutherland","sequence":"additional","affiliation":[{"name":"Department of Integrative Systems Biology, George Washington University, Washington, DC 48109, USA"},{"name":"Center for Neuroscience Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Muger","sequence":"additional","affiliation":[{"name":"Center for Neuroscience Research, Children's National Medical Center, Washington, DC 20010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott Q.","family":"Harper","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA"},{"name":"Department of Pediatrics, Ohio State University College of Medicine, Columbus, OH 43205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanneboyina","family":"Nagaraju","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"},{"name":"Department of Integrative Systems Biology, George Washington University, Washington, DC 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Wen","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA"},{"name":"Department of Integrative Systems Biology, George Washington University, Washington, DC 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2012,5,21]]},"reference":[{"key":"2021080923300938100_b1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1152\/jappl.1999.86.2.455","article-title":"Bed rest increases the amount of mismatched fibers in human skeletal muscle.","volume":"86","author":"Andersen","year":"1999","journal-title":"J. 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