PubMed (OMIM) for id: 5972

Year	Number of Results
1983	2
1984	5
1985	1
1986	3
1987	2
1988	6
1989	2
1990	3
1991	4
1992	2
1993	3
1994	1
1995	1
1997	1
1998	1
1999	1
2002	1
2003	1
2004	1
2005	2
2006	2
2007	3
2008	1
2009	1
2010	1
2011	2
2012	1
2024	0

1

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

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.

2

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

Michaud A, Bur D, Gribouval O, Muller L, Iturrioz X, Clemessy M, Gasc JM, Gubler MC, Corvol P. Michaud A, et al. Hum Mol Genet. 2011 Jan 15;20(2):301-11. doi: 10.1093/hmg/ddq465. Epub 2010 Oct 29. Hum Mol Genet. 2011. PMID: 21036942

3

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.

4

Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.

Horvath GA, Armstrong L. Horvath GA, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1231-5. doi: 10.1002/ajmg.a.31734. Am J Med Genet A. 2007. PMID: 17486625

5

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.

Zingg-Schenk A, Bacchetta J, Corvol P, Michaud A, Stallmach T, Cochat P, Gribouval O, Gubler MC, Neuhaus TJ. Zingg-Schenk A, et al. Eur J Pediatr. 2008 Mar;167(3):311-6. doi: 10.1007/s00431-007-0492-1. Epub 2007 Apr 19. Eur J Pediatr. 2008. PMID: 17443344 Free article.

6

Prorenin levels in retinopathy of prematurity.

Yokota H, Nagaoka T, Mori F, Hikichi T, Hosokawa H, Tanaka H, Ishida Y, Suzuki F, Yoshida A. Yokota H, et al. Am J Ophthalmol. 2007 Mar;143(3):531-3. doi: 10.1016/j.ajo.2006.10.046. Epub 2006 Nov 28. Am J Ophthalmol. 2007. PMID: 17317409

7

A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.

Uematsu M, Sakamoto O, Nishio T, Ohura T, Matsuda T, Inagaki T, Abe T, Okamura K, Kondo Y, Tsuchiya S. Uematsu M, et al. Am J Med Genet A. 2006 Nov 1;140(21):2355-60. doi: 10.1002/ajmg.a.31448. Am J Med Genet A. 2006. PMID: 17036344

8

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S. Hodanová K, et al. Kidney Int. 2005 Oct;68(4):1472-82. doi: 10.1111/j.1523-1755.2005.00560.x. Kidney Int. 2005. PMID: 16164624 Free article.

9

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

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. Gribouval O, et al. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425

10

Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.

Caron KM, James LR, Kim HS, Knowles J, Uhlir R, Mao L, Hagaman JR, Cascio W, Rockman H, Smithies O. Caron KM, et al. Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3106-11. doi: 10.1073/pnas.0307333101. Epub 2004 Feb 20. Proc Natl Acad Sci U S A. 2004. PMID: 14978280 Free PMC article.

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