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Items: 1 to 20 of 95

2.
3.

Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation.

Wang X, Yu M, Wang T, Zhang H, Ping F, Zhang Q, Xu J, Feng K, Xiao X.

Clin Chim Acta. 2017 Jun;469:105-110. doi: 10.1016/j.cca.2017.03.027. Epub 2017 Mar 29.

PMID:
28365451
4.

Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues.

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

Exp Ther Med. 2016 Aug;12(2):649-652. Epub 2016 May 25.

5.

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.

6.

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.

7.

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
8.

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
9.

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.

PMID:
18622023
10.

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
11.

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.

12.

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
13.

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
14.

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.

Zhao X, Cui L, Lang Y, Liu T, Lu J, Wang C, Tuffery-Giraud S, Bottillo I, Wang X, Shao L.

Sci Rep. 2016 Sep 26;6:33920. doi: 10.1038/srep33920.

15.

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
16.

Hypouricaemia and hyperuricosuria in familial renal glucosuria.

Aires I, Santos AR, Pratas J, Nolasco F, Calado J.

Clin Kidney J. 2013 Oct;6(5):523-5. doi: 10.1093/ckj/sft100.

17.

A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting.

Kim KM, Kwon SK, Kim HY.

Electrolyte Blood Press. 2016 Dec;14(2):35-37. doi: 10.5049/EBP.2016.14.2.35. Epub 2016 Dec 31.

18.

SGLT2: a potential target for the pharmacogenetics of Type 2 diabetes?

Tönjes A, Kovacs P.

Pharmacogenomics. 2013 May;14(7):825-33. doi: 10.2217/pgs.13.61. Review.

PMID:
23651029
19.

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
20.

Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.

Ottosson-Laakso E, Tuomi T, Forsén B, Gullström M, Groop PH, Groop L, Vikman P.

PLoS One. 2016 Jan 6;11(1):e0146114. doi: 10.1371/journal.pone.0146114. eCollection 2016.

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