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Items: 1 to 20 of 100

1.

Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.

Calado J, Loeffler J, Sakallioglu O, Gok F, Lhotta K, Barata J, Rueff J.

Kidney Int. 2006 Mar;69(5):852-5.

2.

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A, Scharf M, Tasic V, Greil J, Brinkert F, Kemper MJ, Santer R.

Nephrol Dial Transplant. 2008 Dec;23(12):3874-9. doi: 10.1093/ndt/gfn386. Epub 2008 Jul 12.

3.

Familial renal glucosuria: a clinicogenetic study of 23 additional cases.

Lee H, Han KH, Park HW, Shin JI, Kim CJ, Namgung MK, Kim KH, Koo JW, Chung WY, Lee DY, Kim SY, Cheong HI.

Pediatr Nephrol. 2012 Jul;27(7):1091-5. doi: 10.1007/s00467-012-2109-9.

PMID:
22314875
4.
5.

Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2.

Yu L, Hou P, Lv JC, Liu GP, Zhang H.

Hum Mutat. 2015 Jan;36(1):79-86. doi: 10.1002/humu.22714. Epub 2014 Nov 28.

PMID:
25339128
6.

Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria.

Aires I, Fila M, Polidori D, Santos AR, Costa AB, Calado J.

Nephron. 2015;129(4):300-4. doi: 10.1159/000381677. Epub 2015 Apr 18.

PMID:
25896487
7.

Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.

Yu L, Lv JC, Zhou XJ, Zhu L, Hou P, Zhang H.

Hum Genet. 2011 Mar;129(3):335-44. doi: 10.1007/s00439-010-0927-z. Epub 2010 Dec 17.

PMID:
21165652
8.

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.

Calado J, Soto K, Clemente C, Correia P, Rueff J.

Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12.

PMID:
14614622
9.

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich JH, Kemper M, Li Volti S, Neuhaus T, Skovby F, Swift PG, Schaub J, Klaerke D.

J Am Soc Nephrol. 2003 Nov;14(11):2873-82.

10.

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).

van den Heuvel LP, Assink K, Willemsen M, Monnens L.

Hum Genet. 2002 Dec;111(6):544-7. Epub 2002 Sep 27.

PMID:
12436245
11.

A novel sodium-glucose co-transporter 2 gene (SGLT2) mutation contributes to the abnormal expression of SGLT2 in renal tissues in familial renal glucosuria.

Yu L, Hou P, Lv JC, Liu GP, Zhang H.

Int Urol Nephrol. 2014 Nov;46(11):2237-8. doi: 10.1007/s11255-014-0755-5. Epub 2014 Jun 8. No abstract available.

PMID:
24908283
12.

[Renal glucosuria].

Rohfleisch A, Nseir G, Chehade H, Noverraz MG, Venetz JP, Barbey F.

Rev Med Suisse. 2013 Mar 20;9(378):636-40. French.

PMID:
23547366
14.

Renal glucosuria due to SGLT2 mutations.

Kleta R, Stuart C, Gill FA, Gahl WA.

Mol Genet Metab. 2004 May;82(1):56-8.

PMID:
15110322
15.

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

Santer R, Calado J.

Clin J Am Soc Nephrol. 2010 Jan;5(1):133-41. doi: 10.2215/CJN.04010609. Epub 2009 Nov 5. Review.

16.

Decreased expression and function of sodium-glucose co-transporter 2 from a novel C-terminal mutation: a case report.

Yu L, Xu Q, Hou P, Zhang H.

BMC Nephrol. 2016 Mar 21;17:31. doi: 10.1186/s12882-016-0244-4.

17.

Pregnancy-associated polyuria in familial renal glycosuria.

Toka HR, Yang J, Zera CA, Duffield JS, Pollak MR, Mount DB.

Am J Kidney Dis. 2013 Dec;62(6):1160-4. doi: 10.1053/j.ajkd.2013.05.018. Epub 2013 Jul 18.

PMID:
23871407
18.

Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0).

Oemar BS, Byrd DJ, Brodehl J.

Clin Nephrol. 1987 Mar;27(3):156-60.

PMID:
3568462
19.

Novel frame-shift mutation in Slc5a2 encoding SGLT2 in a strain of senescence-accelerated mouse SAMP10.

Unno K, Yamamoto H, Toda M, Hagiwara S, Iguchi K, Hoshino M, Takabayashi F, Hasegawa-Ishii S, Shimada A, Hosokawa M, Higuchi K, Mori M.

Biochem Biophys Res Commun. 2014 Nov 7;454(1):89-94. doi: 10.1016/j.bbrc.2014.10.039. Epub 2014 Oct 17.

PMID:
25450362
20.

SGLT2 mediates glucose reabsorption in the early proximal tubule.

Vallon V, Platt KA, Cunard R, Schroth J, Whaley J, Thomson SC, Koepsell H, Rieg T.

J Am Soc Nephrol. 2011 Jan;22(1):104-12. doi: 10.1681/ASN.2010030246. Epub 2010 Jul 8.

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