Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Humans with mutations in the SGLT2 gene show familial renal glucosuria.
|
31081587 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG.
|
30942416 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SLC5A2 gene mutations are responsible for most FRG cases.
|
30593819 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria.
|
31584752 |
2019 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also summarized the reported SLC5A2 mutations in the Chinese patients with FRG.
|
28365451 |
2017 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.
|
26735923 |
2016 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a FRG patient with urine glucose excretion 7.56 g/day and a novel SLC5A2 missense mutation, c.1891G > A/p.(E631K), by DNA sequencing.
|
27000029 |
2016 |
Familial renal glucosuria
|
0.400 |
Biomarker
|
disease |
BEFREE |
Variants in solute carrier family 5 (sodium-glucose cotransporter), member 2 (SLC5A2) have been reported in FRG patients.
|
25339128 |
2015 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the current work, the renal threshold for glucose excretion (RTG) was determined in an FRG cohort, with the purpose of characterizing the impact of SGLT2 mutations on renal glucose transport.
|
25896487 |
2015 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing analysis of the SLC5A2 gene encoding the renal glucose transporter SGLT2 showed a homozygous frame-shift mutation (occurring after the glutamine at amino acid 168 and leading to premature termination of the protein at amino acid 186) diagnostic of familial renal glycosuria.
|
23871407 |
2013 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Since the SGLTs reabsorb most of the filtered glucose (90%), it is not surprising that mutations in SLC5A2 cause familial renal glucosuria.
|
23651029 |
2013 |
Familial renal glucosuria
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene.
|
24255686 |
2013 |
Familial renal glucosuria
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2.
|
22314875 |
2012 |
Familial renal glucosuria
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG.
|
21165652 |
2011 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC5A2, the SGLT2 coding gene, are responsible for familial renal glucosuria (FRG), a genetic disorder characterized by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction.
|
21358700 |
2011 |
Familial renal glucosuria
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG.
|
21165652 |
2011 |
Familial renal glucosuria
|
0.400 |
Biomarker
|
disease |
BEFREE |
It also considers congenital defects of sugar metabolism caused by aberrant expression of the SGLT1 in glucose-galactose malabsorption and the SGLT2 in familial renal glycosuria.
|
21049241 |
2010 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A natural analogy is made of SGLT2 inhibition to observations with inactivating mutations of SGLT2 in patients with FRG, the hereditary condition that results in benign glucosuria.
|
19965550 |
2010 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial renal glucosuria (FRG) is a rare renal tubular disorder caused by mutations within the SLC5A2 gene.
|
18622023 |
2008 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
|
16518345 |
2006 |
Familial renal glucosuria
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We suggest that the generalized aminoaciduria accompanying FRG is a consequence of the severe impairment in glucose reabsorption, and is probably not directly related to the SGLT2 mutation.
|
15610225 |
2005 |
Familial renal glucosuria
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.
|
14614622 |
2004 |