A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria
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Active sugar transport in health and diseaseTwenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletionInfluence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over TimeDifferential roles of hyperglycemia and hypoinsulinemia in diabetes induced retinal cell death: evidence for retinal insulin resistanceSodium-glucose transporter-2 (SGLT2; SLC5A2) enhances cellular uptake of aminoglycosides.Efficacy and safety of monotherapy with the novel sodium/glucose cotransporter-2 inhibitor tofogliflozin in Japanese patients with type 2 diabetes mellitus: a combined Phase 2 and 3 randomized, placebo-controlled, double-blind, parallel-group comparDevelopmental changes in renal tubular transport-an overview.SGLT2 mediates glucose reabsorption in the early proximal tubule.The Sweet Pee model for Sglt2 mutationHypouricaemia and hyperuricosuria in familial renal glucosuria.Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues.A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.Glycosuria and Renal Outcomes in Patients with Nondiabetic Advanced Chronic Kidney Disease.SGLT2 inhibitor empagliflozin reduces renal growth and albuminuria in proportion to hyperglycemia and prevents glomerular hyperfiltration in diabetic Akita mice.Sodium-glucose transport: role in diabetes mellitus and potential clinical implications.Pathophysiology of the diabetic kidney.Saving the sweetness: renal glucose handling in health and disease.Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene.Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure.Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.Inhibition of the glucose transporter SGLT2 with dapagliflozin in pancreatic alpha cells triggers glucagon secretion.Pharmacological profile of ipragliflozin (ASP1941), a novel selective SGLT2 inhibitor, in vitro and in vivo.In vitro profiling of the metabolism and drug-drug interaction of tofogliflozin, a potent and highly specific sodium-glucose co-transporter 2 inhibitor, using human liver microsomes, human hepatocytes, and recombinant human CYP.Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2.Familial renal glucosuria: a clinicogenetic study of 23 additional cases.
P2860
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P2860
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@ast
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@en
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@nl
type
label
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@ast
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@en
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@nl
prefLabel
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@ast
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@en
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@nl
P2093
P3181
P1433
P1476
A novel missense mutation in S ...... l glucosuria and aminoaciduria
@en
P2093
Daniella Magen
Eli Sprecher
Israel Zelikovic
P3181
P356
10.1111/J.1523-1755.2005.00053.X
P407
P577
2005-01-01T00:00:00Z
P5875
P6179
1032057864