{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:38:40Z","timestamp":1772138320776,"version":"3.50.1"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2021,12,17]],"date-time":"2021-12-17T00:00:00Z","timestamp":1639699200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Marie Sklodowska-Curie","award":["642937"],"award-info":[{"award-number":["642937"]}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-17-CE16-0030-01"],"award-info":[{"award-number":["ANR-17-CE16-0030-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/T016809\/1"],"award-info":[{"award-number":["MR\/T016809\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Investments for the Future","award":["ANR-10-INSB-04-01"],"award-info":[{"award-number":["ANR-10-INSB-04-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Renal tract defects and autism spectrum disorder (ASD) deficits represent the phenotypic core of the 19q12 deletion syndrome caused by the loss of one copy of the TSHZ3 gene. Although a proportion of Tshz3 heterozygous (Tshz3+\/lacZ) mice display ureteral defects, no kidney defects have been reported in these mice. The purpose of this study was to characterize the expression of Tshz3 in adult kidney as well as the renal consequences of embryonic haploinsufficiency of Tshz3 by analyzing the morphology and function of Tshz3 heterozygous adult kidney. Here, we described Tshz3 expression in the smooth muscle and stromal cells lining the renal pelvis, the papilla and glomerular endothelial cells (GEnCs) of the adult kidney as well as in the proximal nephron tubules in neonatal mice. Histological analysis showed that Tshz3+\/lacZ adult kidney had an average of 29% fewer glomeruli than wild-type kidney. Transmission electron microscopy of Tshz3+\/lacZ glomeruli revealed a reduced thickness of the glomerular basement membrane and a larger foot process width. Compared to wild type, Tshz3+\/lacZ mice showed lower blood urea, phosphates, magnesium and potassium at 2\u00a0months of age. At the molecular level, transcriptome analysis identified differentially expressed genes related to inflammatory processes in Tshz3+\/lacZ compare to wild-type (control) adult kidneys. Lastly, analysis of the urinary peptidome revealed 33 peptides associated with Tshz3+\/lacZ adult mice. These results provide the first evidence that in the mouse Tshz3 haploinsufficiency leads to cellular, molecular and functional abnormalities in the adult mouse kidney.<\/jats:p>","DOI":"10.1093\/hmg\/ddab362","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T15:11:30Z","timestamp":1639581090000},"page":"1921-1945","source":"Crossref","is-referenced-by-count":0,"title":["Haploinsufficiency of the mouse\n                    <i>Tshz3<\/i>\n                    gene leads to kidney defects"],"prefix":"10.1093","volume":"31","author":[{"given":"Irene","family":"Sanchez-Martin","sequence":"first","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Mosaiques Diagnostics GmbH , Hannover , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parisa","family":"Ranjzad","sequence":"additional","affiliation":[{"name":"Division of Cell Matrix Biology and Regenerative Medicine , School of Biological Sciences, Faculty of Biology Medicine and Health, , UK"},{"name":"University of Manchester , School of Biological Sciences, Faculty of Biology Medicine and Health, , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Fatmi","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrice","family":"Richard","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thien Phong Vu","family":"Manh","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, INSERM, CIML, Centre d'Immunologie de Marseille-Luminy , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J","family":"Saurin","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guyl\u00e8ne","family":"Feuillet","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1297 , Institut of Cardiovascular and Metabolic Disease, Toulouse, France"},{"name":"Universit\u00e9 Toulouse III Paul-Sabatier , Toulouse , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colette","family":"Denis","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1297 , Institut of Cardiovascular and Metabolic Disease, Toulouse, France"},{"name":"Universit\u00e9 Toulouse III Paul-Sabatier , Toulouse , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5541-1358","authenticated-orcid":false,"given":"Adrian S","family":"Woolf","sequence":"additional","affiliation":[{"name":"Division of Cell Matrix Biology and Regenerative Medicine , School of Biological Sciences, Faculty of Biology Medicine and Health, , UK"},{"name":"University of Manchester , School of Biological Sciences, Faculty of Biology Medicine and Health, , UK"},{"name":"Royal Manchester Children\u2019s Hospital , , Manchester , UK"},{"name":"Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre , , Manchester , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joost P","family":"Schanstra","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1297 , Institut of Cardiovascular and Metabolic Disease, Toulouse, France"},{"name":"Universit\u00e9 Toulouse III Paul-Sabatier , Toulouse , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Z\u00fcrbig","sequence":"additional","affiliation":[{"name":"Mosaiques Diagnostics GmbH , Hannover , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Caubit","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2307-8428","authenticated-orcid":false,"given":"Laurent","family":"Fasano","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, CNRS, IBDM, UMR7288 , Marseille , France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,12,17]]},"reference":[{"key":"2022062822010961900_ref1","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1038\/nrg2205","article-title":"Renal abnormalities and their developmental origin","volume":"8","author":"Schedl","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"2022062822010961900_ref2","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1172\/JCI20049","article-title":"Calcineurin is required in urinary tract mesenchyme for the development of the pyeloureteral peristaltic machinery","volume":"113","author":"Chang","year":"2004","journal-title":"J. Clin. Invest."},{"key":"2022062822010961900_ref3","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/j.1365-2613.2010.00727.x","article-title":"Congenital ureteropelvic junction obstruction: human disease and animal models","volume":"92","author":"Klein","year":"2011","journal-title":"Int. J. Exp. Pathol."},{"key":"2022062822010961900_ref4","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1038\/ng.3681","article-title":"TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons","volume":"48","author":"Caubit","year":"2016","journal-title":"Nat. Genet."},{"key":"2022062822010961900_ref5","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1242\/dev.022442","article-title":"Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4","volume":"135","author":"Caubit","year":"2008","journal-title":"Development"},{"key":"2022062822010961900_ref6","article-title":"TSHZ3 and SOX9 regulate the timing of smooth muscle cell differentiation in the ureter by reducing myocardin activity","volume":"8","author":"Martin","year":"2013","journal-title":"PLoS One"},{"key":"2022062822010961900_ref7","doi-asserted-by":"crossref","first-page":"9465","DOI":"10.1523\/JNEUROSCI.1765-10.2010","article-title":"Teashirt 3 regulates development of neurons involved in both respiratory rhythm and airflow control","volume":"30","author":"Caubit","year":"2010","journal-title":"J. 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Kidney J."},{"key":"2022062822010961900_ref27","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1681\/ASN.2007010068","article-title":"How fibroblast growth factor 23 works","volume":"18","author":"Liu","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"2022062822010961900_ref28","doi-asserted-by":"crossref","first-page":"3985","DOI":"10.1113\/jphysiol.2014.273979","article-title":"Regulation of serum phosphate","volume":"592","author":"Lederer","year":"2014","journal-title":"J. Physiol."},{"key":"2022062822010961900_ref29","first-page":"316","article-title":"Euthanasia by CO(2) inhalation affects potassium levels in mice","volume":"49","author":"Traslavina","year":"2010","journal-title":"J. Am. Assoc. Lab. Anim. Sci."},{"key":"2022062822010961900_ref30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00418-016-1434-7","article-title":"Descending thin limb of the intermediate loop expresses both aquaporin 1 and urea transporter A2 in the mouse kidney","volume":"146","author":"Kim","year":"2016","journal-title":"Histochem. Cell Biol."},{"key":"2022062822010961900_ref31","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1002\/cphy.c110019","article-title":"Structure and function of the thin limbs of the loop of Henle","volume":"2","author":"Pannabecker","year":"2012","journal-title":"Compr. Physiol."},{"key":"2022062822010961900_ref32","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1152\/physrev.00008.2018","article-title":"Learning physiology from inherited kidney disorders","volume":"99","author":"Wijst","year":"2019","journal-title":"Physiol. 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