|
SLC25A15
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
|
24721342 |
2014 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.
|
23247599 |
2013 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
|
23430880 |
2012 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, according to our structural analysis, the relationship between the disease-causing mutations of human mitochondrial ornithine transporter-1 and the HHH syndrome can be classified into the following three categories: (i) the mutation occurs in the pseudo-repeat regions so as to change the region of the protein closer to the mitochondrial matrix; (ii) the mutation is directly affecting the substrate binding pocket so as to reduce the substrate binding affinity; (iii) the mutation is located in the structural region closer to the intermembrane space that can significantly break the salt bridge networks of the protein.
|
22292090 |
2012 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
|
23430880 |
2012 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle (UCD) and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter (ORNT1).
|
19287344 |
2009 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
|
19242930 |
2009 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations.
|
19242930 |
2009 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
|
18978333 |
2008 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
|
18978333 |
2008 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter.
|
17825324 |
2008 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
|
16376511 |
2006 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Results demonstrated that both HHH015 patients are heterozygous for an ORNT2 gain of function polymorphism and belong to haplogroup A whereas the HHH013 siblings carry the wild-type ORNT2 and are haplogroup H. These observations suggest that the ORNT1 genotype cannot predict the phenotype of HHH patients.
|
16940241 |
2006 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
|
16601889 |
2006 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a Japanese female patient with the HHH syndrome due to a novel homozygous R275X SLC25A15 mutation and male sibling who presumably carried the same mutation.
|
16376511 |
2006 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined.
|
14759633 |
2004 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
|
12807890 |
2003 |
|
SLC25A15
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The gene product of ORNT2 is 88% identical to ORNT1, targets to the mitochondria and is expressed in human liver, pancreas, kidney, and cultured fibroblasts from control and HHH patients.
|
12948741 |
2003 |
|
SLC25A15
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
|
12807890 |
2003 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Because the patient did not have any of the three mutations previously described in other Japanese patients with HHH syndrome, and the only material available from the patient was peripheral leukocytes, we established a genomic polymerase chain reaction method using intronic primers to amplify every exon of the ORNT1 gene, and we directly sequenced the polymerase chain reaction products.
|
11814739 |
2002 |
|
SLC25A15
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We previously described three novel mutations in the ORNT1 gene in Japanese patients with HHH syndrome.
|
11355015 |
2001 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
11552031 |
2001 |
|
SLC25A15
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene.
|
11668643 |
2001 |