{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T12:45:41Z","timestamp":1793709941349,"version":"4.6.1"},"reference-count":27,"publisher":"American Physiological Society","issue":"5","funder":[{"DOI":"10.13039\/501100000024","name":"Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de recherche en sant\u00e9 du Canada)","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Renal Physiology"],"published-print":{"date-parts":[[2017,11,1]]},"abstract":"<jats:p> Odd-skipped related 1 (Osr1) is a transcriptional repressor that plays critical roles in maintaining the mesenchymal stem cell population within the developing kidney. Here, we report that newborn pups with a heterozygous null mutation in Osr1 exhibit a 21% incidence of vesicoureteric reflux and have hydronephrosis and urinary tract duplications. Newborn pups have a short intravesical ureter, resulting in a less competent ureterovesical junction which arises from a delay in urinary tract development. We describe a new domain of Osr1 expression in the ureteral mesenchyme and within the developing bladder in the mouse. OSR1 was sequenced in 186 children with primary vesicoureteric reflux, and 17 have single nucleotide polymorphisms. Fifteen children have a common synonymous variant, rs12329305 , one child has a rare nonsynonymous variant, rs3440471 , and one child has a rare 5\u2032-UTR variant, rs45535040 . The impact of these SNPs is not clear; therefore, the role of OSR1 in human disease remains to be elucidated. Osr1 is a candidate gene implicated in the pathogenesis of vesicoureteric reflux and congenital abnormalities of the kidney and urinary tract in mice. <\/jats:p>","DOI":"10.1152\/ajprenal.00107.2017","type":"journal-article","created":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T20:20:11Z","timestamp":1500495611000},"page":"F1106-F1115","source":"Crossref","is-referenced-by-count":13,"title":["Heterozygous loss-of-function mutation in Odd-skipped related 1 (<i>Osr1<\/i>) is associated with vesicoureteric reflux, duplex systems, and hydronephrosis"],"prefix":"10.1152","volume":"313","author":[{"given":"Marie-Lyne","family":"Fillion","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine","family":"El Andalousi","sequence":"additional","affiliation":[{"name":"Research Institute of McGill University Health Centre, Montreal Children\u2019s Hospital, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Tokhmafshan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasikar","family":"Murugapoopathy","sequence":"additional","affiliation":[{"name":"Research Institute of McGill University Health Centre, Montreal Children\u2019s Hospital, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L.","family":"Watt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga J.","family":"Murawski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John-Paul","family":"Capolicchio","sequence":"additional","affiliation":[{"name":"Division of Urology, Montreal Children\u2019s Hospital and McGill University, Montr\u00e9al, Qu\u00e9bec, Canada; 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