|
Hartnup Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
SLC6A19 (B<sup>0</sup>AT1) is a neutral amino acid transporter, the loss of function of which results in Hartnup disease.
|
30589598 |
2019 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of note were four mutations in SLC6A19 that associate with reduced SCr, three of which have been shown to cause Hartnup disease.
|
25082825 |
2014 |
|
Hartnup Disease
|
1.000 |
Biomarker
|
disease |
MGD |
A general neutral aminoaciduria was observed similar to human Hartnup disorder which is caused by mutations in SLC6A19.
|
21636576 |
2011 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A general neutral aminoaciduria was observed similar to human Hartnup disorder which is caused by mutations in SLC6A19.
|
21636576 |
2011 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder.
|
20399395 |
2010 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
|
19185582 |
2009 |
|
Hartnup Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To investigate a pedigree with Hartnup disorder and to search for the mutation in the SLC6A19 gene in this pedigree.
|
19335424 |
2009 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate a pedigree with Hartnup disorder and to search for the mutation in the SLC6A19 gene in this pedigree.
|
19335424 |
2009 |
|
Hartnup Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
|
19185582 |
2009 |
|
Hartnup Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
|
19472175 |
2009 |
|
Hartnup Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We demonstrate that Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 alleles, whether identical or not, necessary for manifestation of the characteristic aminoaciduria in affected individuals.
|
18484095 |
2008 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We demonstrate that Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 alleles, whether identical or not, necessary for manifestation of the characteristic aminoaciduria in affected individuals.
|
18484095 |
2008 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 alleles, whether identical or not, necessary for manifestation of the characteristic aminoaciduria in affected individuals.
|
18484095 |
2008 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A protein complex in the brush-border membrane explains a Hartnup disorder allele.
|
18424768 |
2008 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33.
|
17555458 |
2007 |
|
Hartnup Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Persistence of the common Hartnup disease D173N allele in populations of European origin.
|
17555458 |
2007 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As anticipated, recently, mutations in the cytoplasmic and transmembrane domains of SLC6A19, the recently cloned neutral amino acid transporter, were detected in members of families with Hartnup disorder.
|
15681018 |
2005 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent developments [including the identification of the first Hartnup disorder gene (B0AT1; SLC6A19)] and knockout mouse models have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals.
|
15772300 |
2005 |
|
Hartnup Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
|
15592994 |
2005 |
|
Hartnup Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.
|
15286788 |
2004 |
|
Hartnup Disease
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.
|
15286787 |
2004 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We localized a gene causing Hartnup disorder to chromosome 5p15.33 and cloned a new gene, SLC6A19, in this region.
|
15286788 |
2004 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.
|
15286787 |
2004 |
|
Hartnup Disease
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.
|
15286788 |
2004 |
|
Hartnup Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.
|
15286787 |
2004 |