|
Hyperphenylalaninaemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin and protein synthesis, as well as reduced levels of serotonin, dopamine, and noradrenaline in the brain.
|
31551819 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (<i>PAH</i>) gene, is often complicated by the identification of many novel variants, often with no obvious impact on the associated disorder.
|
31208052 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
|
31332730 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The estimated carrier frequency based on genomic data with a recent guideline of variant interpretation for the PAH gene, in which defects cause hyperphenylalaninemia (HPA) and phenylketonuria (PKU), provided a closer estimate to that by the observed incidence than the other methods.
|
30887117 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this work, we investigated the interaction of normal wild-type DNAJC12 with mutant PAH in cells expressing several PAH variants associated with HPA in humans, as well as in the Enu<sup>1/1</sup> mouse model, homozygous for the V106A-Pah variant, which leads to severe protein instability, accelerated PAH degradation and mild HPA.
|
30667134 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified 251 0-variants encoding inactive PAH, and assigned APVs (0 = classic PKU; 5 = mild PKU; 10 = mild hyperphenylalaninaemia) to 88 variants in PAH-functional hemizygous patients.
|
29997390 |
2019 |
|
Hyperphenylalaninaemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Wistar rats were randomized in two groups: HPA animals received a single subcutaneous administration of Phe (5.2 μmol/g) plus p-Cl-Phe (PAH inhibitor) (0.9 μmol/g); control animals received a single injection of 0.9% NaCl.
|
29454001 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hyperphenylalaninemia (HPA) is an inherited metabolic disorder that is caused by a deficiency of phenylalanine hydroxylase (PAH) or tetrahydrobiopterin.
|
29499199 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mild PKU variants (PAH activity = 40.2 ± 7.6%; APV = 2.8-6.6) were not significantly different from mild hyperphenylalaninemia, but there was a difference (p < .048) compared with classic PKU phenotypes.
|
30037505 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Phenylalanine hydroxylase (PAH) regulates phenylalanine (Phe) levels in mammals to prevent neurotoxicity resulting from high Phe concentrations as observed in genetic disorders leading to hyperphenylalaninemia and phenylketonuria.
|
30287685 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hyperphenylalaninemia (HPA) caused by hepatic phenylalanine hydroxylase (PAH) deficiency has severe consequences on brain monoamine neurotransmitter metabolism.
|
29520738 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In PAH deficient MSCs, expression of Col1A1 and Rankl are suppressed by hyperphenylalaninemia consistent with reduced bone formation and bone turnover.
|
30201326 |
2018 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study identified three novel mutations in either the PAH or PTS gene and supported the use of NGS as an alternative molecular genetic approach for definite diagnosis of hyperphenylalaninemia, thus leading to proper management of these patients in Thailand.
|
28915855 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are a group of genetic disorders predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene.
|
28653649 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients exhibiting hyperphenylalaninemia in whom deficiencies in hepatic phenylalanine hydroxylase and tetrahydrobiopterin cofactor metabolism had been excluded were subsequently analysed for <i>DNAJC12</i> variants.
|
28794131 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
With a combination of methylated PCR, high resolution melting, and sequencing, the cytosine phosphodiester bond guanine (CpG) dinucleotides in the 5' untranslated region of the PAH gene were analysed 2-15days after birth using leukocyte DNA from diet free 16 newborns with HPA and 16 healthy controls.
|
28389235 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aims to evaluate the significance of the c.158G>A (p.Arg53His) variant in the PAH gene, which was previously reported to be a pathogenic mutation that results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients.
|
29032371 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels.
|
28645531 |
2017 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The mutation spectrum for the phenylalanine hydroxylase (PAH) gene was investigated in a cohort of 84 hyperphenylalaninemia (HPA) patients from Romania identified through newborn screening or neurometabolic investigations.
|
26481238 |
2016 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To examine this hypothesis, we assessed DNA methylation patterns in brain tissues using methylated DNA immunoprecipitation and paired end sequencing in adult PAH(enu2) animals maintained under either continuous dietary Phe restriction or chronic hyperphenylalaninemia.
|
26822703 |
2016 |
|
Hyperphenylalaninaemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
|
26666653 |
2015 |
|
Hyperphenylalaninaemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
|
26503515 |
2015 |
|
Hyperphenylalaninaemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
|
25596310 |
2015 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We further support the marked heterogeneity of hyperphenylalaninemia primarily due to allelic heterogeneity at the PAH locus.
|
24296287 |
2014 |
|
Hyperphenylalaninaemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To set up a fast and comprehensive assay in order to achieve early etiological diagnosis and differential diagnosis for children with HPA, we designed a custom AmpliSeq™ panel for the sequencing of coding DNA sequence (CDS), flanking introns, 5' untranslated region (UTR) and 3' UTR from five HPA-causing genes (PAH, PTS, QDPR, GCH1, and PCBD1) using the Ion Torrent Personal Genome Machine (PGM) Sequencer.
|
25456745 |
2014 |