Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

Human Mutation

Volumn 33, Issue 2, 2012, Pages 316-326

  Gribouval, Olivier ^a   Morinière, Vincent ^b   Pawtowski, Audrey ^c   Arrondel, Christelle ^a   Sallinen, Satu Leena ^d   Saloranta, Carola ^e   Clericuzio, Carol ^f   Viot, Géraldine ^g   Tantau, Julia ^g   Blesson, Sophie ^h   Cloarec, Sylvie ⁱ   Machet, Marie Christine ^j   Chitayat, David ^k   Thauvin, Christelle ^l   Laurent, Nicole ^m   Sampson, Julian R ⁿ   Bernstein, Jonathan A ^o   Clemenson, Alix ^p   Prieur, Fabienne ^p   Daniel, Laurent ^q   Levy Mozziconacci, Annie ^r   Lachlan, Katherine ^s   Alessandri, Jean Luc ^t   Cartault, François ^u   Rivière, Jean Pierre ^v   Picard, Nicole ^w   Baumann, Clarisse ^w   Delezoide, Anne Lise ^w   Ortega, Maria Belar ^x   Chassaing, Nicolas ^y   Labrune, Philippe ^z   Yu, Sui ^aa   Firth, Helen ^ab   Wellesley, Diana ^s   Bitzan, Martin ^ac   Alfares, Ahmed ^ad   Braverman, Nancy ^ad   Krogh, Lotte ^ae   Tolmie, John ^af   Gaspar, Harald ^ag   Doray, Bérénice ^ai   Majore, Silvia ^aj   Bonneau, Dominique ^aj   Triau, Stéphane ^w   Loirat, Chantal ^ak   David, Albert ^al   Bartholdi, Deborah ^ah   Peleg, Amir ^am   Brackman, Damien ^an   Stone, Rosario ^ao   DeBerardinis, Ralph ^ap   Corvol, Pierre ^aq   Michaud, Annie ^aq   Antignac, Corinne ^a,b,c,ar   Gubler, Marie Claire ^a,b   more..

^a INSERM   (France)

^b Service de neurologie pédiatrique Centre de référence des maladies lysosomales HÔpital Trousseau AP HP   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^g Hôpital Cochin Saint Vincent de Paul Paris ^*  (France)

^h CHU BRETONNEAU   (France)

ⁱ Centre de Pediatrie Clocheville   (France)

^j SERVICE DE DERMATOLOGIE   (France)

^k MOUNT SINAI HOSPITAL   (Canada)

^l Medical University of Dijon   (France)

^m DIJON UNIVERSITY HOSPITAL   (France)

ⁿ CARDIFF UNIVERSITY   (United Kingdom)

^o STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p HÔPITAL NORD   (France)

^q TIMONE HOSPITAL   (France)

^r HÔPITAL NORD   (France)

^s PRINCESS ANNE HOSPITAL   (United Kingdom)

^t Service de Génétique ^*  (France)

^u CHUde Bordeaux   (France)

^v Centre Hospitalier Regional Felix Guyon   (France)

^w HÔPITAL ROBERT DEBRÉ   (France)

^x HOSPITAL DONOSTIA   (Spain)

^y CHU PURPAN   (France)

^z HÔPITAL ANTOINE BÉCLÈRE   (France)

^aa WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^ab ADDENBROOKE S HOSPITAL   (United Kingdom)

^ac MONTREAL CHILDREN S HOSPITAL   (Canada)

^ad MCGILL UNIVERSITY   (Canada)

^ae ODENSE UNIVERSITY HOSPITAL   (Denmark)

^af ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^ag UNIVERSITY OF HEIDELBERG   (Germany)

^ah HÔPITAL DE HAUTEPIERRE   (France)

^ai SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^aj ANGERS UNIVERSITY HOSPITAL   (France)

^ak Hopital Mere Enfant CHU de Nantes   (France)

^al UNIVERSITY OF ZURICH   (Switzerland)

^am HAEMEK MEDICAL CENTER   (Israel)

^an HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^ao HOSPITAL DE SANTA MARIA   (Portugal)

^ap UNIVERSITY OF TEXAS AT DALLAS   (United States)

^aq l'alimentation et l'Environnement   (France)

^ar UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

ACE; AGT; AGTR1; REN; Renal tubular dysgenesis; Renin angiotensin system

Indexed keywords

ANGIOTENSIN 1 RECEPTOR; ANGIOTENSIN I; ANGIOTENSIN II; ANGIOTENSINOGEN; ASPARAGINE; ASPARTIC ACID; ASPARTIC PROTEINASE; DIPEPTIDYL CARBOXYPEPTIDASE; LEUCINE; PROLINE; PRORENIN; RENIN; SERINE PROTEINASE INHIBITOR;

ALPHA HELIX; AMINO TERMINAL SEQUENCE; ANASARCA; ANEMIA; ANGIOTENSIN BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RENAL TUBULAR DYSGENESIS; BETA SHEET; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 17Q; CHROMOSOME 1Q; ENZYME ACTIVITY; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERURICEMIA; HYPOTENSION; INTERSTITIAL NEPHRITIS; INTRON; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; MISSENSE MUTATION; NEWBORN CARE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGOHYDRAMNIOS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN CLEAVAGE; PROTEIN DOMAIN; PROTEIN EXPRESSION; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; STOP CODON; SURVIVAL RATE;

ANGIOTENSINOGEN; ANIMALS; DISEASE MODELS, ANIMAL; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; KIDNEY TUBULES, PROXIMAL; MUTATION; PEPTIDYL-DIPEPTIDASE A; RECEPTOR, ANGIOTENSIN, TYPE 1; RENIN; RENIN-ANGIOTENSIN SYSTEM; UROGENITAL ABNORMALITIES;

EID: 84857789805     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21661     Document Type: Article

References (78)

1. Allanson JE, Hunter AGW, Mettler GS, Jimenez C. 1992. Renal tubular dysgenesis: a not uncommonautosomal recessive syndrome: a review. Am J Med Genet 43:811-881.
2. Allanson JE, Pantzar JT, Macleod PM. 1983. Possible new autosomal recessive syndrome with unusual renal histological changes. Am J Med Genet 16:57-60.
3. Ardaillou R. 1999. Angiotensin II receptors. J Am Soc Nephrol 10 (Suppl 11):S30-S39.
4. Ariel I, Wells TR, Landing BH, Sagi M, Bar-Oz B, Ron N, Rosenmann E. 1995. Familial renal tubular dysgenesis: a disorder not isolated to proximal tubules. Pediatr Pathol Lab Med 15:915-922.
5. Bacchetta J, Dijoud F, Bouvier R, Putet G, Gubler MC, Cochat P. 2007. Dysǵeńesie tubulaire proximale et mutation du g̀ene de la ŕenine. Arch Ṕediatr 14:1084-1087.
6. Bale PM, Kan AE, Dorney SF. 1994. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Pediatr Pathol 14:479-489.
7. Barr M, Cohen MM. 1999. ACE inhibitor fetopathy and hypocalvaria. The kidney-skull connection. Teratology 44:485-495.
8. Barr M, Sedman AB, Heidelberger KP. 1998. Renal tubular dysgenesis in twins. Pediatr Nephrol 12:408-413.
9. Ben Amar H, Gargouri A, Makni S, Kammoun H, Trigui L, Hentati Hmida N, Gubler MC, Regaieg R, Boudawara T, Rekik A. 2007. Dysǵeńesie tubulaire ŕenale autosomique recessive: ́etude morphologique et ǵeńetique de 2 nouveaux cas. Arch Ṕed 14:1088-1091.
10. Bernstein J, Barajas L. 1994.Renal tubular dysgenesis evidence of anomality in the renin-angiotensin system. J Am Soc Nephrol 5:224-227.
11. Bleyer AJ, Zivná M, Hulkov́a H, Hodanova K, Vyletal P, Sikora J, Zivńy J, Sovov́a J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. 2010. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 74:411-422.
12. Broughton Pipkin F. 1984. The renin-angiotensin system in mother and f_tus. Equine Vet J 18:253-255.
13. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. 2009. 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. Hum Mutat 30:641-648.
14. Corvol P, Michaud A, Gribouval O, Gasc JM, Gubler MC. 2008. Can we live without a functional renin-angiotensin system? Clin Exp Pharmacol Physiol 35:431-433.
15. Danilov S, Kalinin S, Chen Z, Vinokour E, Nesterovitch A, Schwartz D, Gribouval O, Gubler MC, Minshall R. 2010. Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-Domain". PloS One 5:e10438
16. Esther CR, Marino EM, Howard TE, Machaud A, Corvol P, Capecchi MR, Bernstein KE. 1997. The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice. J Clin Invest 99:2375-2385.
17. Franks RC, Hayachi R.H. 1982. Maternal and fetal renin activity and renin and big renin concentration in second trimester pregnancy. Circ Res 54:301-312.
18. Gaillard, I, Clauser, E, Corvol, P. 1997. Structure of human angiotensinogen gene. DNA 8:87-99.
19. Gomez RA, Robillard JE. 1984. Developmental aspects of the renal response to hemorrhage during converting-enzyme inhibition in fetal lambs. Circ Res 54:301-312.
20. Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. 2005. Mutations in renin-angiotensin system genes are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 37:964-968.
21. Gubler MC, Antignac C. 2010. Renin-angiotensin system in kidney development, renal tubular dysgenesis. Kidney Int 77:400-406.
22. Gubler MC, Sarrut S, Imbert MC, Narcy F, Lacoste M, Guicharnaud L, Gasc JM, Mounier F. 1993.Renal tubular dysgenesis (RTD), an autosomal recessive disorder, and the renin-angiotensin system. J Am Soc Nephrol 4:263.
23. Guo DF, Furuta I, Mizukoshi M, Inagami T. 1994. The genomic organization of human angiotensin II type 1 receptor. Biochem Biophys Res Commun 200:313-319.
24. Hilgers KF, Reddi V, Krege JH, Smithies O, Gomez RA. 1997. Aberrant renal vascular morphology and renin expression inmutantmice lacking angiotensin-converting enzyme. Hypertension 29:216-221.
25. Huang CW, Yang AH, Lai CR, Chang SC, Chiang H. 2003. Renal tubular dysgenesis in siblings. J Chin Med Assoc 66:261-262.
26. Hubert, C., Houot, A.M., Corvol, P., Soubrier, F. 1991. Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. J Biol Chem 266:15377-15383.
27. Imai T, Miyazaki H, Hirose S, Hori H, Hayashi T, Kageyama R, Ohkubo H, Nakanishi S, Murakami K. 1983. Cloning and sequence analysis of cDNA for human renin precursor. Proc Natl Acad Sci USA 80:7405-7409.
28. Jain V, Beneck D. 2003. Renal tubular dysgenesis in an hydropic fetus with trisomy 2: a case report with literature review. Pediatr Dev Pathol 6:568-572.
29. Kim HS, Krege JH, Kluckman KD, Hagaman JR, Hodgin JB, Best CF, Jennette JC, Coffman TM, Maeda N, Smithies O. 1995. Genetic control of blood pressure and the angiotensinogen locus. Proc Natl Acad Sci USA 92:2735-2739.
30. Kriegsmann J, Coerdt W, Kommos sF, Beetz R, Hallermann C, M̈untefering H. 2000. Renal tubular dysgenesis (RTD). An important cause of the oligo-hydramnionsequence. Report of 3 cases and review of the literature. Pathol Res Pract 196:861-865.
31. Kumar D, Moss G, Primhak R, Coombs R. 1997. Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin-converting enzyme (ACE) inhibitors. J Med Genet 34:541-545.
32. Kumral A, Duman N, G̈ulcan H, Sarioglu S, Tuncer C, Ozkan H. 2003. Renal tubular dysgenesis and multiple intestinal perforation. Pediatr Dev Pathol 6:96-98.
33. Labaj PP, Leparc GG, Bardet AF, Kreil G, Kreil DP. 2010. Single amino acid repeats in signal peptides. FEBS J. 277:3147-3157.
34. Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Ben Amar H, Jarnet C, Frances AM, Däi{dotless}kha-Dahman F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelle P, Gasc JM, Corvol P, Gubler MC. 2006. Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios. Role of the renin-angiotensin system. J Am Soc Nephrol 17:2253-2263.
35. Landing BH, Ang SM. Herta N, Larson E, Turner M. 1994. Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. Pediatr Pathol 14:87-99.
36. MacMahon P, Blackie RAS, House MJ, Risdon RA, d'A Crawfurd M. 1990. A further family with congenital renal proximal tubular dysgenesis. J Med Genet 27:395-398.
37. Mahieu-Caputo D, Dommergues M, Delezoide AL, Lacoste M, Cai Y, Narcy F, Jolly D, Gonzales M, Dumez Y, Gubler MC. 2000. Twin to twin transfusion syndrome. Role of the fetal renin-angiotensin system. Am J Pathol 156:629-636.
38. Mantan M, Hari P, Aggarwal V, Dinda A, Bagga A. 2004. Renal tubular dysgenesis. Indian J Pediatr 71:1041.
39. Marcussen N. 1991. Atubular glomeruli in renal artery stenosis. Lab Invest 65:558-565.
40. Martinovic J, Benachi A, Laurent N, Däikha-Dahmane F, Gubler MC. 2001. Fetal toxic effects of angiotensin II receptor antagonists. Report of three additional cases. Lancet 358:241-242.
41. McFadden DE, Pantzar JT, Van Allen MII, Langlois S. 1997. Renal tubular dysgenesis with calvaria hypoplasia: report of two additional cases and review. J Med Genet 34:846-848.
42. Mercure C, Lacombe MJ, Khashayarsha K, Reudelhuber TL. 2010. Cathepsin B is not the processing enzyme for mouse prorenin. Am J Physiol Regul Integr Cop Physiol 298:R1212-R1216.
43. Metzman RA, Husson MA, Dellers DA. 1993.Renal tubular dysgenesis: a description of early renal maldevelopment in siblings. Pediatr Pathol 13:239-248.
44. Michaud A, Bur D, Gribouval O, Iturrioz X, Clemessy M, Gasc JM, Gubler MC, Corvol P. 2011. Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. Hum Mol Genet 20:301-311.
45. Milunsky JM, Genest DR, Milunsky A. 1997. Renal tubular dysgenesis with microcephaly. Pediatr Nephrol 11:494-496.
46. Miura SI, Saku K, Karnik SS. 2003. Molecular analysis of the structure and function of the angiotensin II type 1 receptor. Hypertens Res 26:937-943.
47. Miyazaki H, Fukamizu A, Hirose S, Hayashi T, Hori H, Ohkubo H, Nakanishi S, Murakami K. 1984. Structure of the human renin gene. Proc Natl Acad Sci USA 81:5999-6003.
48. Miyazaki Y, Tsuchida S, Nishimura H, Pope JC IV, Harris RC, McKanna JM, Inagami T, Hogan BLM, Fogo A, Ichikawa I. 1998. Angiotensin induces the urinary peristaltic machinery during the perinatal period. J Clin Invest 102:1489-1497.
49. Moldavsky M. 2009. Renal tubular dysgenesis in Israel: pathologist's experience and literature review. IMAJ 11:6-10.
50. Moreno C, Hoffman M, Stodola TJ, Didier DN, Lazar J, Geurts AM, North PE, Jacob HJ, Greene AS. 2011. Creation and characterization of a renin knockout rat. Hypertension 57:614-619.
51. Morris BJ Cantanzaro DF, Hardman J, Mesterovic N, Tellam J, Hort Y, Shine J. 1984. Human renin gene sequence, gene regulation and prorenin processing. J Hypert 2 (Suppl 3):231-233.
52. Mounier F, Hinglais N, Sich M, Gros F, Lacoste M, Deris Y, Alhenc-Gelas F, Gubler MC. 1987. Ontogenesis of angiotensin-I converting enzyme in human kidney. Kidney Int 32:684-690.
53. Niimura F, Labosky PA, Kakuchi J, Okubo S, Yoshida H, Oikawa T, Ichiki T, Naftilan AJ, Fogo A, Inagami T, Hogan BLM, Ichikawa I. 1995. Gene targeting in mice reveals a requirement for angiotensin in the development and maintenance of kidney morphology and growth factor regulation. J Clin Invest 96:2947-2954.
54. Oakes GK, Fleischman AR, Catt KJ, Chez RA. 1977. Plasma renin activity in sheep pregnancy after fetal or maternal nephrectomy. Biol Neonate 31:208-212.
55. Okubo S, Nimura F, Matsusaka T, Fogo A, Hogan BLM, Ichikawa I. 1998.Angiotensinogen gene null-mutant mice lack homeostatic regulation of glomerular filtration and tubular reabsorption. Kidney Int 53:617-625.
56. Oliverio MI, Kim HS, Ito M, Le T, Audoly L, Best CF, Hiller S, Kluckman K, Mada N, Smithies O, Coffman TM. 1998. Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors. Proc Natl Acad Sci USA 95:15496-15501.
57. Pelayo JC, Eisner GM, Jose PA. 1981 The ontogeny of the renin-angiotensin system. Clin Perinatol 8:347-359.
58. Pryde PG, Sedman AB, Nugent CE, Barr M. 1993. Angiotensin-converting enzyme inhibitor fetopathy. J Am Soc Nephrol 3:1575-1582.
59. Querfeld U, Ortmann M, Vierzig A, Roth B. 1996. Renal tubular dysgenesis: a report of two cases. J Perinatol 16:498-500.
60. Russo R, D'Armiento M, Vecchione R. 1991. Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly SC type. Am J Med Genet 39:482-485.
61. Saji H, Yamanaka M, Hagieara A, Aijiri R. 2001. Losartan and fetal toxic effects. Lancet 357:363.
62. Schreiber R, Gubler MC, Gribouval O, Shalev H, Landau D. 2010. Inherited renal tubular dysgenesis may not be universally fatal. Pediatr Nephrol 25:2531-2534.
63. Schutz S, Le Moullec JM, Corvol P, Gasc JM. 1996. Early expression of all components of the renin-angiotensin-system in human development. Am J Pathol 149:2067-2079.
64. Schwartz BR, Lage JM, Pober BR, Driscoll SG. 1986. Isolated congenital renal tubular immaturity in siblings. Hum Pathol 17:1259-1263.
65. Sielecki AR, Hayakawa K, Fujinaga M, Murphy ME, Fraser M, Muir AK, Carilli CT, Lewicki, J, Baxter JD, James MN. 1989. Structure of recombinant human renin, a target for cardiovascular-active drugs, at 2.5 A resolution. Science 243:1346-1351.
66. Streatfeild-James RM, Williamson D, Pike RN, Tewksbury D, Carrell RW, Coughlin PB. 1998. Angiotensinogen cleavage by renin: importance of a structurally constrained N-terminus. FEBS Lett 436:267-270.
67. Swinford AE, Bernstein J, Toriello HV, Higgins JV. 1989. Renal tubular dysgenesis: delayed onset of oligohydramnios. Am J Med Genet 32:127-132.
68. Sysmonds EM, Craven DJ. 1985. Fetal plasma renin and renin ubstrate in mid-trimester pregnancy. Br J Obstet Gynoecol 92:618-621.
69. Takahashi N, Lopez ML, Cowhig JE Jr, Taylor MA, Hatada T, Riggs E, Lee G, Gomez RA, Kim HS, Smithies O. 2005. Ren1c homozygous null mice are hypotensive and polyuric, but heterozygotes are indistinguishable from wild-type. J Am Soc Nephrol 16:125-132.
70. Tsuchida S, Matsusaka T, Chen X, Okubo S, Niimura F, Nishimura H, Fogo A, Utsunomiya H, Inagami T, Ichikawa I. 1998. Murine double nullizygotes of the angiotensin type IA and IB receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes. J Clin Invest 101:755-760.
71. Tufro-McReddie A, Gomez A. 1993. Ontogeny of the renin-angiotensin system. Sem Nephrol 13:519-530.
72. Turner AJ, Hooper NM. 2002. The angiotensin-converting enzyme gene family: genomic and pharmacology. Trends Pharmacol Sci 23:177-183.
73. Uematsu M, Sakamoto O, Nishio T, Ohura T, Matsuda T, Inagaki T, Abe T, Okamura K, Kondo Y, Tsuchiya S. 2006. A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. Am J Med Genet 140:2355-2360.
74. Uematsu M, Sakamoto O, Ohura T, Shimizu N, Satomura K, Tsuchiya S. 2009. A further case of renal tubular dysgenesis surviving the neonatal period. Eur J Pediatr 168:207-209.
75. Voland JR, Hawkins EP, Wells TR, Saunders B, Jones M, Benirschke K. 1985. Congenital hypernephronic nephromegaly with tubular dysgenesis: a distinctive inherited renal anomaly. Pediatr Pathol 4:231-245.
76. Yanai K, Saito T, Kakinuma Y, Kon Y, Hirota K, Taniguchi-Yanai K, Nishijo N, Shigematsu Y, Horiguchi H, Kasuya Y, Sugiyama F, Yagami K, Murakami K, Fukamizu A. 2000. Renin-dependent cardiovascular functions and reninindependent blood-brain barrier functions revealed by renin- deficient mice. J Biol Chem 275:5-8.
77. Zingg-Schenk A, Bacchetta J, Corvol P, Michaud A, Stallmach T, Cochat P, Gribouval O, Gubler MC, Neuhaus TJ. 2008. Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. Eur J Pediatr 167:311-316.
78. Zivńa M, Hùlkov́a H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikoa J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart S, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. 2009. Dominant renin genemutations associated with early-onset hyperuricemia, anemia, and chronic renal failure. Am J Hum Genet 85:204-213.