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Primary kidney collecting duct cells isolated from mutant mice with nephronophthisis are morphologically and functionally rescued when Hedgehog signaling is stimulated. This finding was replicated in ex vivo cultured urine-derived renal epithelial cells from a patient with Joubert syndrome and nephronophthisis. Understanding the initial molecular mechanisms of nephronophthisis is a significant advancement of the wider field of ciliopathies and identifies Hedgehog signaling as a potential therapeutic target for these conditions.<\/jats:p>","DOI":"10.1073\/pnas.1322373111","type":"journal-article","created":{"date-parts":[[2014,6,20]],"date-time":"2014-06-20T01:49:03Z","timestamp":1403228943000},"page":"9893-9898","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":87,"title":["Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis"],"prefix":"10.1073","volume":"111","author":[{"given":"Ann Marie","family":"Hynes","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel H.","family":"Giles","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalabh","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Eley","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Danilenko","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shreya","family":"Raman","sequence":"additional","affiliation":[{"name":"Histopathology Department, Royal Victoria Infirmary, Newcastle upon Tyne National Health Service Foundation Trust Hospitals, Newcastle upon Tyne NE1 4LP, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela G.","family":"Slaats","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Colville","sequence":"additional","affiliation":[{"name":"Newcastle Magnetic Resonance Centre, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Ajzenberg","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension, University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Thelwall","sequence":"additional","affiliation":[{"name":"Newcastle Magnetic Resonance Centre, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, United Kingdom;"},{"name":"Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom; 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