{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:40:24Z","timestamp":1791286824771,"version":"4.1.0"},"reference-count":45,"publisher":"The Company of Biologists","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,2,15]]},"abstract":"<jats:p>Nephron morphogenesis is a complex process that generates blood-filtration units (glomeruli) connected to extremely long and patterned tubular structures. Hepatocyte nuclear factor 1\u03b2 (HNF1\u03b2) is a divergent homeobox transcription factor that is expressed in kidney from the first steps of nephrogenesis. Mutations in HNF1B (OMIM #137920) are frequently found in patients with developmental renal pathologies, the mechanisms of which have not been completely elucidated. Here we show that inactivation of Hnf1b in the murine metanephric mesenchyme leads to a drastic tubular defect characterized by the absence of proximal, distal and Henle's loop segments. Nephrons were eventually characterized by glomeruli, with a dilated urinary space, directly connected to collecting ducts via a primitive and short tubule. In the absence of HNF1\u03b2 early nephron precursors gave rise to deformed S-shaped bodies characterized by the absence of the typical bulge of epithelial cells at the bend between the mid and lower segments. The lack of this bulge eventually led to the absence of proximal tubules and Henle's loops. The expression of several genes, including Irx1, Osr2 and Pou3f3, was downregulated in the S-shaped bodies. We also observed decreased expression of Dll1 and the consequent defective activation of Notch in the prospective tubular compartment of comma- and S-shaped bodies. Our results reveal a novel hierarchical relationship between HNF1\u03b2 and key genes involved in renal development. In addition, these studies define a novel structural and functional component of S-shaped bodies at the origin of tubule formation.<\/jats:p>","DOI":"10.1242\/dev.086546","type":"journal-article","created":{"date-parts":[[2013,1,29]],"date-time":"2013-01-29T10:01:23Z","timestamp":1359453683000},"page":"886-896","source":"Crossref","is-referenced-by-count":136,"title":["Hepatocyte nuclear factor 1\u03b2 controls nephron tubular development"],"prefix":"10.1242","volume":"140","author":[{"given":"Filippo","family":"Massa","sequence":"first","affiliation":[{"name":"Expression G\u00e9nique, D\u00e9veloppement et Maladies (EGDM) Team, INSERM U1016, CNRS UMR 8104, Universit\u00e9 Paris-Descartes. Institut Cochin; D\u00e9partement de G\u00e9n\u00e9tique et D\u00e9veloppement, 75014 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Garbay","sequence":"additional","affiliation":[{"name":"Expression G\u00e9nique, D\u00e9veloppement et Maladies (EGDM) Team, INSERM U1016, CNRS UMR 8104, Universit\u00e9 Paris-Descartes. Institut Cochin; D\u00e9partement de G\u00e9n\u00e9tique et D\u00e9veloppement, 75014 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymonde","family":"Bouvier","sequence":"additional","affiliation":[{"name":"Hospices civils de Lyon, Centre de pathologie Est, 69677 Bron Cedex, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinobu","family":"Sugitani","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Cancer Institute, The Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo 135-8550, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Noda","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Cancer Institute, The Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo 135-8550, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire","family":"Gubler","sequence":"additional","affiliation":[{"name":"INSERM U983, H\u00f4pital Necker-Enfants Malades, 75015 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[{"name":"AP-HP, Centre de R\u00e9f\u00e9rence MARHEA, Service de N\u00e9phrologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, 75015 Paris France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Pontoglio","sequence":"additional","affiliation":[{"name":"Expression G\u00e9nique, D\u00e9veloppement et Maladies (EGDM) Team, INSERM U1016, CNRS UMR 8104, Universit\u00e9 Paris-Descartes. Institut Cochin; D\u00e9partement de G\u00e9n\u00e9tique et D\u00e9veloppement, 75014 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyne","family":"Fischer","sequence":"additional","affiliation":[{"name":"Expression G\u00e9nique, D\u00e9veloppement et Maladies (EGDM) Team, INSERM U1016, CNRS UMR 8104, Universit\u00e9 Paris-Descartes. 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