|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Virtual screening expands this possibility to explore more compounds that can interact with GLUT10 and may aid in understanding the mechanisms leading to ATS.
|
31203799 |
2020 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
We revise here the current knowledge on ATS and the role of GLUT10 within the compartmentalization of ascorbate in physiological and diseased states.
|
31621376 |
2019 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Transport of dehydroascorbic acid is impaired in the endomembranes of fibroblasts from arterial tortuosity syndrome (ATS) patients, due to the mutation in the gene coding for glucose transporter GLUT10.
|
30800210 |
2019 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Glucose transporter 10 (GLUT10) is a member of the GLUT family of membrane transporters, and mutations in this gene cause arterial tortuosity syndrome (ATS).
|
29149261 |
2018 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.
|
29323665 |
2018 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Expression of exogenous, tagged GLUT10 in fibroblasts from an ATS patient revealed a strict co-localization with the ER marker protein disulfide isomerase (PDI).
|
28829359 |
2017 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
The present results demonstrate that GLUT10 is a DAA transporter and DAA transport is diminished in the endomembranes of fibroblasts from ATS patients.
|
27153185 |
2016 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
|
26376865 |
2015 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
The role of GLUT10 in ATS pathogenesis remains an enigma, and the transported metabolite(s), i.e. glucose and/or dehydroascorbic acid, have not been clearly elucidated.
|
26376865 |
2015 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
|
25373504 |
2014 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
|
25373504 |
2014 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
|
23494979 |
2013 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.
|
23410549 |
2013 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
|
23494979 |
2013 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
|
22488877 |
2012 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
|
22488877 |
2012 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
In ATS, loss of GLUT10 results in defective collagen and/or elastin.
|
20547159 |
2010 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recent data indicate that loss-of-function mutation in the gene encoding the facilitative glucose transporter GLUT10 (SLC2A10) causes arterial tortuosity syndrome via upregulation of the TGF-β pathway in the arterial wall, a mechanism possibly causing vascular changes in diabetes.
|
20735855 |
2010 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Successful outcome in pregnancy with arterial tortuosity syndrome.
|
19622975 |
2009 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
|
18774132 |
2009 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.
|
18818946 |
2009 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Arterial tortuosity syndrome in two Italian paediatric patients.
|
19781076 |
2009 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.
|
17935213 |
2008 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.
|
17935213 |
2008 |
|
ARTERIAL TORTUOSITY SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.
|
17935213 |
2008 |