|
Hyperphenylalaninaemia
|
0.160 |
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
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive mutations in the 6-pyruvoyltetrahydropterin synthase (PTPS) gene are the most common reason for hyperphenylalaninemia due to tetrahydrobiopterin deficiency.
|
8841415 |
1996 |
|
Hyperphenylalaninaemia
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a new allele from a child with PTPS deficiency who exhibited a mild but transient form of hyperphenylalaninemia, yet was deficient in CSF monoamines.
|
10874306 |
2000 |
|
Hyperphenylalaninaemia
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
While such amino acidemias as branched-chain amino acidemia (MSUD) in classic and intermediate forms (44%) and hyperphenylalaninemia (PKU) due to 6-pyruvoyltetrahydropterin synthase deficiency (6PTSD) (19%) were common, classic PKU was rare (16%).
|
1588014 |
1992 |
|
Hyperphenylalaninaemia
|
0.160 |
Biomarker
|
disease |
BEFREE |
The deficiency of 6-pyruvoyltetrahydropterin synthase is relatively common in the Arab population and should be considered in individuals with hyperphenylalaninemia.
|
30926181 |
2019 |
|
Hyperphenylalaninaemia
|
0.160 |
Biomarker
|
disease |
BEFREE |
Molecular analysis would provide a simple and reliable means for distinguishing PTPS deficiency from other potential causes of HPA.
|
10585341 |
1999 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The PTPS mutation observed in this patient generates a novel phenotype with an apparently isolated central form of BH(4) deficiency.
|
10874306 |
2000 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles.
|
11916314 |
2001 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency was the primary cause of BH4 deficiency (96.0 %); four hotspot mutations accounted for 76.6 % of PTS gene mutations; two novel variants in the QDPR gene were identified.
|
23138986 |
2013 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.050 |
Biomarker
|
disease |
BEFREE |
40 cases with BH4 deficiency were identified and all classified as PTPS deficiency between 2004 and 2012 in Shandong province, China.
|
25304915 |
2015 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive mutations in the 6-pyruvoyltetrahydropterin synthase (PTPS) gene are the most common reason for hyperphenylalaninemia due to tetrahydrobiopterin deficiency.
|
8841415 |
1996 |
|
Phenylketonurias
|
0.030 |
Biomarker
|
group |
BEFREE |
The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria.
|
11772995 |
2002 |
|
Phenylketonurias
|
0.030 |
Biomarker
|
group |
BEFREE |
To develop a rapid method for the diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency, we designed a multiplex, PCR-based primer panel to amplify all the exons and flanking regions (50 bp average) of six PKU-associated genes (PAH, PTS, GCH1, QDPR, PCBD1 and GFRP).
|
24705691 |
2014 |
|
Phenylketonurias
|
0.030 |
Biomarker
|
group |
BEFREE |
While such amino acidemias as branched-chain amino acidemia (MSUD) in classic and intermediate forms (44%) and hyperphenylalaninemia (PKU) due to 6-pyruvoyltetrahydropterin synthase deficiency (6PTSD) (19%) were common, classic PKU was rare (16%).
|
1588014 |
1992 |
|
Metabolic Diseases
|
0.020 |
Biomarker
|
group |
BEFREE |
The enzyme 6-pyruvoyltetrahydropterin synthase catalyzes the second step of de novo synthesis of tetrahydrobiopterin, and its deficiency is the most frequent cause of tetrahydrobiopterin metabolism disorders.
|
30926181 |
2019 |
|
Metabolic Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Genetically, BH4 metabolism disorders are, in an autosomal recessive pattern, caused by a variant in genes encoding enzymes for BH4 synthesis or recycling, including 6-pyruvoyltetrahydropterin synthase (PTPS) or dihydropteridine reductase (DHPR), respectively.
|
27798097 |
2016 |
|
Deep Vein Thrombosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Interventional endovascular therapies for DVT have the potential to provide PE protection and prevention of PTS.
|
27664152 |
2017 |
|
Deep Vein Thrombosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
However, patients who develop PTS after DVT report poorer HRQoL using both generic and disease-specific questionnaires.
|
28760416 |
2018 |
|
Classical phenylketonuria
|
0.020 |
Biomarker
|
disease |
BEFREE |
The transition regions contained other disease-related genes including APP associated with familial Alzheimer's disease (AD1), SOD1 associated with familial amyotrophic lateral sclerosis (ALS1) and PTS associated with phenylketonuria.
|
11772995 |
2002 |
|
Classical phenylketonuria
|
0.020 |
Biomarker
|
disease |
BEFREE |
While such amino acidemias as branched-chain amino acidemia (MSUD) in classic and intermediate forms (44%) and hyperphenylalaninemia (PKU) due to 6-pyruvoyltetrahydropterin synthase deficiency (6PTSD) (19%) were common, classic PKU was rare (16%).
|
1588014 |
1992 |
|
Amnesia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Findings also add to the ongoing discussions about the suitability of SAD as a PTSD-relevant trauma type and about the importance of trauma-related amnesia as a PTSD symptom.
|
30055470 |
2018 |
|
Asthma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Contrary to previous studies, we found no associations between the copy number of PTS-repeats and protection against asthma.
|
28957509 |
2017 |
|
Central Nervous System Infection
|
0.010 |
Biomarker
|
group |
BEFREE |
In a new report, the authors apply this approach to investigate the heterogeneity in manifestations of disease caused by Listeria monocytogenes and demonstrate that a previously uncharacterized cellobiose PTS system is involved in central nervous system infection.
|
26906682 |
2016 |
|
Colitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that this PTS permits growth in gluconate, facilitates <i>E. faecalis</i> intestinal colonization, and exacerbates colitis.We generated <i>E. faecalis</i> strains containing deletions/point mutations in this PTS and measured bacterial growth and PTS gene expression in minimal medium supplemented with selected carbohydrates.We show that <i>E. faecalis</i> upregulates OG1RF_12399 transcription specifically in the presence of gluconate and that <i>E. faecalis</i> strains lacking, or harboring a single point mutation in, OG1RF_12399-12402 are unable to grow in minimal medium containing gluconate.
|
31036600 |
2019 |
|
Colorectal Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, we show that PTPS, which is highly expressed in early-stage colorectal cancer, is phosphorylated at Thr 58 by AMPK under hypoxia; this phosphorylation promotes PTPS binding to LTBP1 and subsequently drives iNOS-mediated LTBP1 S-nitrosylation through proximal-coupling BH4 production within the PTPS/iNOS/LTBP1 complex.
|
31628042 |
2020 |