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Structural kidney defects occur at an increased frequency in Jacobsen syndrome (OMIM #147791), a rare chromosomal disorder caused by deletions in distal 11q, implicating at least one causal gene in distal 11q. In this study, we define an 8.1 Mb \u201ccritical region\u201d for kidney defects in Jacobsen syndrome, which spans ~50 genes. We demonstrate that gene\u2010targeted deletion of <jats:italic>Ets\u20101<\/jats:italic> in mice results in some of the most common congenital kidney defects occurring in Jacobsen syndrome, including: duplicated kidney, hypoplastic kidney, and dilated renal pelvis and calyces. Taken together, our results implicate Ets\u20101 in normal mammalian kidney development and, potentially, in the pathogenesis of some of the most common types of human structural kidney defects.<\/jats:p>","DOI":"10.1002\/ajmg.a.40481","type":"journal-article","created":{"date-parts":[[2018,11,13]],"date-time":"2018-11-13T15:23:23Z","timestamp":1542122603000},"page":"71-77","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Gene\u2010targeted deletion in mice of the <i>Ets<\/i>\u2212<i>1<\/i> transcription factor, a candidate gene in the Jacobsen syndrome kidney \u201ccritical region,\u201d causes abnormal kidney development"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0881-2305","authenticated-orcid":false,"given":"Maoqing","family":"Ye","sequence":"first","affiliation":[{"name":"State Key Laboratory of Medical Genomics Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lian","family":"Xu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genomics Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengxia","family":"Fu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genomics Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongrui","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genomics Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Mattina","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Biomedical and Biotechnological Sciences (BIOMETEC)  Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsetta","family":"Zufardi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Pavia  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Pavia  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin T.","family":"Bush","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California San Diego School of Medicine  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay K.","family":"Nigam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California San Diego School of Medicine  San Diego California"},{"name":"Department of Medicine University of California San Diego School of Medicine  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7215-3821","authenticated-orcid":false,"given":"Paul","family":"Grossfeld","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology University of California San Diego School of Medicine  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,13]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_7_2_1","DOI":"10.1016\/S1074-7613(00)80638-X"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1016\/B978-0-12-381462-3.00025-2"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1016\/j.ydbio.2003.10.023"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1074\/jbc.274.1.165"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.1002\/wdev.52"},{"doi-asserted-by":"publisher","key":"e_1_2_7_7_1","DOI":"10.1111\/1754-9485.12285"},{"doi-asserted-by":"publisher","key":"e_1_2_7_8_1","DOI":"10.1681\/ASN.2009091005"},{"doi-asserted-by":"publisher","key":"e_1_2_7_9_1","DOI":"10.1002\/ajmg.a.30090"},{"doi-asserted-by":"publisher","key":"e_1_2_7_10_1","DOI":"10.1101\/gad.10.12.1467"},{"doi-asserted-by":"publisher","key":"e_1_2_7_11_1","DOI":"10.1242\/dev.01604"},{"doi-asserted-by":"publisher","key":"e_1_2_7_12_1","DOI":"10.1097\/01.ASN.0000106015.29070.E7"},{"doi-asserted-by":"publisher","key":"e_1_2_7_13_1","DOI":"10.1016\/B978-0-12-800102-8.00018-7"},{"issue":"6","key":"e_1_2_7_14_1","first-page":"1551","article-title":"Differential expression of ets\u20101 and ets\u20102 proto\u2010oncogenes during murine embryogenesis","volume":"9","author":"Maroulakou I. 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