{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:49:16Z","timestamp":1791229756080,"version":"4.1.0"},"reference-count":78,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T00:00:00Z","timestamp":1324512000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T00:00:00Z","timestamp":1324512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1002\/humu.21661","type":"journal-article","created":{"date-parts":[[2011,11,17]],"date-time":"2011-11-17T17:56:47Z","timestamp":1321552607000},"page":"316-326","source":"Crossref","is-referenced-by-count":111,"title":["Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis"],"prefix":"10.1155","volume":"33","author":[{"given":"Olivier","family":"Gribouval","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Pawtowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Arrondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satu-Leena","family":"Sallinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carola","family":"Saloranta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9raldine","family":"Viot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Tantau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Blesson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Cloarec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Christine","family":"Machet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Thauvin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Laurent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian R.","family":"Sampson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"Clemenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Prieur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Levy-Mozziconacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lachlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Luc","family":"Alessandri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Cartault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Pierre","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Belar Ortega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sui","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Firth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Wellesley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Bitzan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Alfares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Braverman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Krogh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Gaspar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9r\u00e9nice","family":"Doray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Majore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Triau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Loirat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Bartholdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Peleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Brackman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"DeBerardinis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Corvol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Michaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Claire","family":"Gubler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,22]]},"reference":[{"key":"10.1002\/humu.21661-BIB1|cit1","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1002\/ajmg.1320430512","article-title":"Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review","volume":"43","author":"Allanson","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21661-BIB2|cit2","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/ajmg.1320160110","article-title":"Possible new autosomal recessive syndrome with unusual renal histological changes","volume":"16","author":"Allanson","year":"1983","journal-title":"Am J Med Genet"},{"issue":"Suppl 11","key":"10.1002\/humu.21661-BIB3|cit3","first-page":"S30","article-title":"Angiotensin II receptors","volume":"10","author":"Ardaillou","year":"1999","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB4|cit4","doi-asserted-by":"crossref","first-page":"915","DOI":"10.3109\/15513819509027027","article-title":"Familial renal tubular dysgenesis: a disorder not isolated to proximal tubules","volume":"15","author":"Ariel","year":"1995","journal-title":"Pediatr Pathol Lab Med"},{"key":"10.1002\/humu.21661-BIB5|cit5","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1016\/j.arcped.2007.04.012","article-title":"Dysg\u00e9n\u00e9sie tubulaire proximale et mutation du g\u00e8ne de la r\u00e9nine","volume":"14","author":"Bacchetta","year":"2007","journal-title":"Arch P\u00e9diatr"},{"key":"10.1002\/humu.21661-BIB6|cit6","doi-asserted-by":"crossref","first-page":"479","DOI":"10.3109\/15513819409024277","article-title":"Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease","volume":"14","author":"Bale","year":"1994","journal-title":"Pediatr Pathol"},{"key":"10.1002\/humu.21661-BIB7|cit7","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/tera.1420440503","article-title":"ACE inhibitor fetopathy and hypocalvaria. The kidney-skull connection","volume":"44","author":"Barr","year":"1999","journal-title":"Teratology"},{"key":"10.1002\/humu.21661-BIB8|cit8","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/s004670050476","article-title":"Renal tubular dysgenesis in twins","volume":"12","author":"Barr","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"10.1002\/humu.21661-BIB9|cit9","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1016\/j.arcped.2007.04.011","article-title":"Dysg\u00e9n\u00e9sie tubulaire r\u00e9nale autosomique recessive: \u00e9tude morphologique et g\u00e9n\u00e9tique de 2 nouveaux cas","volume":"14","author":"Ben Amar","year":"2007","journal-title":"Arch P\u00e9d"},{"key":"10.1002\/humu.21661-BIB10|cit10","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1681\/ASN.V52224","article-title":"Renal tubular dysgenesis evidence of anomality in the renin-angiotensin system","volume":"5","author":"Bernstein","year":"1994","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB11|cit11","doi-asserted-by":"crossref","first-page":"411","DOI":"10.5414\/CNP74411","article-title":"Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone","volume":"74","author":"Bleyer","year":"2010","journal-title":"Clin Nephrol"},{"key":"10.1002\/humu.21661-BIB12|cit12","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1111\/j.2042-3306.1984.tb01921.x","article-title":"The renin-angiotensin system in mother and f_tus","volume":"18","author":"Broughton Pipkin","year":"1984","journal-title":"Equine Vet J"},{"key":"10.1002\/humu.21661-BIB13|cit13","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1002\/humu.20916","article-title":"A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats","volume":"30","author":"Chung","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21661-BIB14|cit14","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1440-1681.2008.04891.x","article-title":"Can we live without a functional renin-angiotensin system?","volume":"35","author":"Corvol","year":"2008","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"10.1002\/humu.21661-BIB15|cit15","doi-asserted-by":"crossref","first-page":"e10438","DOI":"10.1371\/journal.pone.0010438","article-title":"Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-Domain\u201d","volume":"5","author":"Danilov","year":"2010","journal-title":"PloS One"},{"key":"10.1002\/humu.21661-BIB16|cit16","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1172\/JCI119419","article-title":"The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice","volume":"99","author":"Esther","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21661-BIB17|cit17","first-page":"301","article-title":"Maternal and fetal renin activity and renin and big renin concentration in second trimester pregnancy","volume":"54","author":"Franks","year":"1982","journal-title":"Circ Res"},{"key":"10.1002\/humu.21661-BIB18|cit18","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1089\/dna.1.1989.8.87","article-title":"Structure of human angiotensinogen gene","volume":"8","author":"Gaillard","year":"1997","journal-title":"DNA"},{"key":"10.1002\/humu.21661-BIB19|cit19","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1161\/01.RES.54.3.301","article-title":"Developmental aspects of the renal response to hemorrhage during converting-enzyme inhibition in fetal lambs","volume":"54","author":"Gomez","year":"1984","journal-title":"Circ Res"},{"key":"10.1002\/humu.21661-BIB20|cit20","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1038\/ng1623","article-title":"Mutations in renin-angiotensin system genes are associated with autosomal recessive renal tubular dysgenesis","volume":"37","author":"Gribouval","year":"2005","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21661-BIB22|cit21","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/ki.2009.423","article-title":"Renin-angiotensin system in kidney development, renal tubular dysgenesis","volume":"77","author":"Gubler","year":"2010","journal-title":"Kidney Int"},{"key":"10.1002\/humu.21661-BIB21|cit22","first-page":"263","article-title":"Renal tubular dysgenesis (RTD), an autosomal recessive disorder, and the renin-angiotensin system","volume":"4","author":"Gubler","year":"1993","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB23|cit23","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1006\/bbrc.1994.1450","article-title":"The genomic organization of human angiotensin II type 1 receptor","volume":"200","author":"Guo","year":"1994","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21661-BIB24|cit24","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1161\/01.HYP.29.1.216","article-title":"Aberrant renal vascular morphology and renin expression in mutant mice lacking angiotensin-converting enzyme","volume":"29","author":"Hilgers","year":"1997","journal-title":"Hypertension"},{"key":"10.1002\/humu.21661-BIB25|cit25","first-page":"261","article-title":"Renal tubular dysgenesis in siblings","volume":"66","author":"Huang","year":"2003","journal-title":"J Chin Med Assoc"},{"key":"10.1002\/humu.21661-BIB26|cit26","doi-asserted-by":"crossref","first-page":"15377","DOI":"10.1016\/S0021-9258(18)98626-6","article-title":"Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene","volume":"266","author":"Hubert","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21661-BIB27|cit27","doi-asserted-by":"crossref","first-page":"7405","DOI":"10.1073\/pnas.80.24.7405","article-title":"Cloning and sequence analysis of cDNA for human renin precursor","volume":"80","author":"Imai","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21661-BIB28|cit28","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1007\/s10024-003-1008-2","article-title":"Renal tubular dysgenesis in an hydropic fetus with trisomy 2: a case report with literature review","volume":"6","author":"Jain","year":"2003","journal-title":"Pediatr Dev Pathol"},{"key":"10.1002\/humu.21661-BIB29|cit29","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1073\/pnas.92.7.2735","article-title":"Genetic control of blood pressure and the angiotensinogen locus","volume":"92","author":"Kim","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21661-BIB30|cit30","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/S0344-0338(00)80090-4","article-title":"Renal tubular dysgenesis (RTD). An important cause of the oligo-hydramnion-sequence. Report of 3 cases and review of the literature","volume":"196","author":"Kriegsmann","year":"2000","journal-title":"Pathol Res Pract"},{"key":"10.1002\/humu.21661-BIB31|cit31","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1136\/jmg.34.7.541","article-title":"Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin-converting enzyme (ACE) inhibitors","volume":"34","author":"Kumar","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21661-BIB32|cit32","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s10024-001-0206-z","article-title":"Renal tubular dysgenesis and multiple intestinal perforation","volume":"6","author":"Kumral","year":"2003","journal-title":"Pediatr Dev Pathol"},{"key":"10.1002\/humu.21661-BIB33|cit33","doi-asserted-by":"crossref","first-page":"3147","DOI":"10.1111\/j.1742-4658.2010.07720.x","article-title":"Single amino acid repeats in signal peptides","volume":"277","author":"Labaj","year":"2010","journal-title":"FEBS J."},{"key":"10.1002\/humu.21661-BIB34|cit34","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1681\/ASN.2005121303","article-title":"Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios. Role of the renin-angiotensin system","volume":"17","author":"Lacoste","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB35|cit35","doi-asserted-by":"crossref","first-page":"87","DOI":"10.3109\/15513819409022029","article-title":"Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease","volume":"14","author":"Landing","year":"1994","journal-title":"Pediatr Pathol"},{"key":"10.1002\/humu.21661-BIB36|cit36","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1136\/jmg.27.6.395","article-title":"A further family with congenital renal proximal tubular dysgenesis","volume":"27","author":"MacMahon","year":"1990","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21661-BIB37|cit37","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/S0002-9440(10)64767-0","article-title":"Twin to twin transfusion syndrome. Role of the fetal renin-angiotensin system","volume":"156","author":"Mahieu-Caputo","year":"2000","journal-title":"Am J Pathol"},{"key":"10.1002\/humu.21661-BIB38|cit38","first-page":"1041","article-title":"Renal tubular dysgenesis","volume":"71","author":"Mantan","year":"2004","journal-title":"Indian J Pediatr"},{"key":"10.1002\/humu.21661-BIB39|cit39","first-page":"558","article-title":"Atubular glomeruli in renal artery stenosis","volume":"65","author":"Marcussen","year":"1991","journal-title":"Lab Invest"},{"key":"10.1002\/humu.21661-BIB40|cit40","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0140-6736(01)05426-5","article-title":"Fetal toxic effects of angiotensin II receptor antagonists. Report of three additional cases","volume":"358","author":"Martinovic","year":"2001","journal-title":"Lancet"},{"key":"10.1002\/humu.21661-BIB41|cit41","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1136\/jmg.34.10.846","article-title":"Renal tubular dysgenesis with calvaria hypoplasia: report of two additional cases and review","volume":"34","author":"McFadden","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21661-BIB42|cit42","doi-asserted-by":"crossref","first-page":"R1212","DOI":"10.1152\/ajpregu.00830.2009","article-title":"Cathepsin B is not the processing enzyme for mouse prorenin","volume":"298","author":"Mercure","year":"2010","journal-title":"Am J Physiol Regul Integr Cop Physiol"},{"key":"10.1002\/humu.21661-BIB43|cit43","doi-asserted-by":"crossref","first-page":"239","DOI":"10.3109\/15513819309048210","article-title":"Renal tubular dysgenesis: a description of early renal maldevelopment in siblings","volume":"13","author":"Metzman","year":"1993","journal-title":"Pediatr Pathol"},{"key":"10.1002\/humu.21661-BIB44|cit44","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1093\/hmg\/ddq465","article-title":"Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking","volume":"20","author":"Michaud","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21661-BIB45|cit45","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1007\/s004670050325","article-title":"Renal tubular dysgenesis with microcephaly","volume":"11","author":"Milunsky","year":"1997","journal-title":"Pediatr Nephrol"},{"key":"10.1002\/humu.21661-BIB46|cit46","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1291\/hypres.26.937","article-title":"Molecular analysis of the structure and function of the angiotensin II type 1 receptor","volume":"26","author":"Miura","year":"2003","journal-title":"Hypertens Res"},{"key":"10.1002\/humu.21661-BIB47|cit47","doi-asserted-by":"crossref","first-page":"5999","DOI":"10.1073\/pnas.81.19.5999","article-title":"Structure of the human renin gene","volume":"81","author":"Miyazaki","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21661-BIB48|cit48","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1172\/JCI4401","article-title":"Angiotensin induces the urinary peristaltic machinery during the perinatal period","volume":"102","author":"Miyazaki","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21661-BIB49|cit49","first-page":"6","article-title":"Renal tubular dysgenesis in Israel: pathologist's experience and literature review","volume":"11","author":"Moldavsky","year":"2009","journal-title":"IMAJ"},{"key":"10.1002\/humu.21661-BIB50|cit50","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1161\/HYPERTENSIONAHA.110.163840","article-title":"Creation and characterization of a renin knockout rat","volume":"57","author":"Moreno","year":"2011","journal-title":"Hypertension"},{"issue":"3","key":"10.1002\/humu.21661-BIB51|cit51","first-page":"231","article-title":"Human renin gene sequence, gene regulation and prorenin processing","volume":"2","author":"Morris","year":"1984","journal-title":"J Hypert"},{"key":"10.1002\/humu.21661-BIB52|cit52","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/ki.1987.261","article-title":"Ontogenesis of angiotensin-I converting enzyme in human kidney","volume":"32","author":"Mounier","year":"1987","journal-title":"Kidney Int"},{"key":"10.1002\/humu.21661-BIB53|cit53","doi-asserted-by":"crossref","first-page":"2947","DOI":"10.1172\/JCI118366","article-title":"Gene targeting in mice reveals a requirement for angiotensin in the development and maintenance of kidney morphology and growth factor regulation","volume":"96","author":"Niimura","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21661-BIB54|cit54","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1159\/000240961","article-title":"Plasma renin activity in sheep pregnancy after fetal or maternal nephrectomy","volume":"31","author":"Oakes","year":"1977","journal-title":"Biol Neonate"},{"key":"10.1002\/humu.21661-BIB55|cit55","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1046\/j.1523-1755.1998.00788.x","article-title":"Angiotensinogen gene null-mutant mice lack homeostatic regulation of glomerular filtration and tubular reabsorption","volume":"53","author":"Okubo","year":"1998","journal-title":"Kidney Int"},{"key":"10.1002\/humu.21661-BIB56|cit56","doi-asserted-by":"crossref","first-page":"15496","DOI":"10.1073\/pnas.95.26.15496","article-title":"Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors","volume":"95","author":"Oliverio","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21661-BIB57|cit57","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0095-5108(18)31085-6","article-title":"The ontogeny of the renin-angiotensin system","volume":"8","author":"Pelayo","year":"1981","journal-title":"Clin Perinatol"},{"key":"10.1002\/humu.21661-BIB58|cit58","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1681\/ASN.V391575","article-title":"Angiotensin-converting enzyme inhibitor fetopathy","volume":"3","author":"Pryde","year":"1993","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB59|cit59","first-page":"498","article-title":"Renal tubular dysgenesis: a report of two cases","volume":"16","author":"Querfeld","year":"1996","journal-title":"J Perinatol"},{"key":"10.1002\/humu.21661-BIB60|cit60","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/ajmg.1320390423","article-title":"Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly SC type","volume":"39","author":"Russo","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21661-BIB61|cit61","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/S0140-6736(00)03648-5","article-title":"Losartan and fetal toxic effects","volume":"357","author":"Saji","year":"2001","journal-title":"Lancet"},{"key":"10.1002\/humu.21661-BIB62|cit62","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1007\/s00467-010-1584-0","article-title":"Inherited renal tubular dysgenesis may not be universally fatal","volume":"25","author":"Schreiber","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"10.1002\/humu.21661-BIB63|cit63","first-page":"2067","article-title":"Early expression of all components of the renin-angiotensin-system in human development","volume":"149","author":"Schutz","year":"1996","journal-title":"Am J Pathol"},{"key":"10.1002\/humu.21661-BIB64|cit64","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1016\/S0046-8177(86)80570-6","article-title":"Isolated congenital renal tubular immaturity in siblings","volume":"17","author":"Schwartz","year":"1986","journal-title":"Hum Pathol"},{"key":"10.1002\/humu.21661-BIB65|cit65","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1126\/science.2493678","article-title":"Structure of recombinant human renin, a target for cardiovascular-active drugs, at 2.5 A resolution","volume":"243","author":"Sielecki","year":"1989","journal-title":"Science"},{"key":"10.1002\/humu.21661-BIB66|cit66","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0014-5793(98)01145-4","article-title":"Angiotensinogen cleavage by renin: importance of a structurally constrained N-terminus","volume":"436","author":"Streatfeild-James","year":"1998","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.21661-BIB67|cit67","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/ajmg.1320320127","article-title":"Renal tubular dysgenesis: delayed onset of oligohydramnios","volume":"32","author":"Swinford","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21661-BIB68|cit68","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1111\/j.1471-0528.1985.tb01401.x","article-title":"Fetal plasma renin and renin ubstrate in mid-trimester pregnancy","volume":"92","author":"Sysmonds","year":"1985","journal-title":"Br J Obstet Gynoecol"},{"key":"10.1002\/humu.21661-BIB69|cit69","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1681\/ASN.2004060490","article-title":"Ren1c homozygous null mice are hypotensive and polyuric, but heterozygotes are indistinguishable from wild-type","volume":"16","author":"Takahashi","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21661-BIB70|cit70","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1172\/JCI1899","article-title":"Murine double nullizygotes of the angiotensin type IA and IB receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes","volume":"101","author":"Tsuchida","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21661-BIB71|cit71","first-page":"519","article-title":"Ontogeny of the renin-angiotensin system","volume":"13","author":"Tufro-McReddie","year":"1993","journal-title":"Sem Nephrol"},{"key":"10.1002\/humu.21661-BIB72|cit72","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0165-6147(00)01994-5","article-title":"The angiotensin-converting enzyme gene family: genomic and pharmacology","volume":"23","author":"Turner","year":"2002","journal-title":"Trends Pharmacol Sci"},{"key":"10.1002\/humu.21661-BIB73|cit73","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1002\/ajmg.a.31448","article-title":"A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations","volume":"140","author":"Uematsu","year":"2006","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21661-BIB74|cit74","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00431-008-0743-9","article-title":"A further case of renal tubular dysgenesis surviving the neonatal period","volume":"168","author":"Uematsu","year":"2009","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.21661-BIB75|cit75","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3109\/15513818509026897","article-title":"Congenital hypernephronic nephromegaly with tubular dysgenesis: a distinctive inherited renal anomaly","volume":"4","author":"Voland","year":"1985","journal-title":"Pediatr Pathol"},{"key":"10.1002\/humu.21661-BIB76|cit76","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1074\/jbc.275.1.5","article-title":"Renin-dependent cardiovascular functions and renin-independent blood-brain barrier functions revealed by renin- deficient mice","volume":"275","author":"Yanai","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21661-BIB77|cit77","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/s00431-007-0492-1","article-title":"Inherited renal tubular dysgenesis: the first patients surviving the neonatal period","volume":"167","author":"Zingg-Schenk","year":"2008","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.21661-BIB78|cit78","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ajhg.2009.07.010","article-title":"Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic renal failure","volume":"85","author":"Zivn\u00e1","year":"2009","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21661","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21661","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21661\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:53:03Z","timestamp":1672314783000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,22]]},"references-count":78,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21661","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,12,22]]}}}