|1.||Blau, Nenad: 10 articles (03/2015 - 03/2003)|
|2.||Stevens, Raymond C: 9 articles (12/2008 - 12/2003)|
|3.||Thöny, Beat: 8 articles (04/2012 - 01/2008)|
|4.||Martinez, Aurora: 7 articles (11/2015 - 10/2006)|
|5.||Zschocke, Johannes: 7 articles (03/2015 - 04/2003)|
|6.||Muntau, Ania C: 6 articles (03/2015 - 10/2010)|
|7.||Feillet, François: 6 articles (03/2015 - 03/2006)|
|8.||Ugarte, Magdalena: 6 articles (08/2009 - 04/2003)|
|9.||Jung, Sung-Chul: 6 articles (03/2009 - 01/2004)|
|10.||Oh, Hyun-Jeong: 6 articles (10/2008 - 01/2002)|
11/01/2015 - "To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis. "
01/01/2015 - "The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. "
08/01/2011 - "[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province]."
04/01/2011 - "To study the characteristics of the phenylalanine hydroxylase gene (PAH) mutations in patients with phenylketonuria (PKU) in Henan province, in order to provide basic information for genetic counseling and prenatal diagnosis. "
10/01/2008 - "As the phenylketonuria is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase, in this study we build a descriptively quantitative relationship between mutant phenylalanine hydroxylase and classifications of phenylketonuria. "
|2.||Hepatocellular Carcinoma (Hepatoma)
10/01/1979 - "These studies have provided three reasons for believing that in cultured rat hepatoma cells one gene codes for a single polypeptide chain, a number of which combine to form the active phenylalanine hydroxylase multimer: (1) Analysis of the purified protein by two-dimensional electrophoresis revealed only a single polypeptide chain. "
10/01/1979 - "II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells."
06/01/1996 - "The promoter lacks TAATA and CCAAT consensus sequences and shows only extremely weak activity in transitory expression assays with phenylalanine hydroxylase-producing hepatoma cells. "
01/01/1986 - "Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells."
05/01/1985 - "MEL cells do not express the enzyme phenylalanine hydroxylase (PH) and are unable to grow in tyr- medium, whereas the rat hepatoma cells constitutively express PH and are able to grow in tyr- medium. "
|3.||Schizophrenia (Dementia Praecox)
06/05/2009 - "Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples."
05/01/1993 - "Thus, carriership of either of two common mutations in the phenylalanine hydroxylase gene does not appear to be associated with an increased risk of schizophrenia. "
05/01/1993 - "The study approach then is illustrated by testing known mutations in the phenylalanine hydroxylase gene, responsible for the autosomal recessive disease of phenylketonuria, in the case-control sample to determine if carriership of a mutant allele is associated with an increased risk of schizophrenia. "
01/01/2014 - "Inflammation, increasingly implicated in schizophrenia, can impair the function of the enzyme Phenylalanine hydroxylase (PAH; which catalyzes the conversion of phenylalanine to tyrosine) and thus lead to elevated phenylalanine levels and reduced tyrosine levels. "
04/01/2009 - "We tested four genes [phenylalanine hydroxylase (PAH), the serotonin transporter (SLC6A4), monoamine oxidase B (MAOB), and the gamma-aminobutyric acid A receptor beta-3 subunit (GABRB3)] for their impact on five schizophrenia symptom factors: delusions, hallucinations, mania, depression, and negative symptoms. "
12/01/2014 - "The proteomic study indicates that the protein expression of thioredoxin domain-containing protein 12, peroxiredoxin-1, thiosulphate sulphurtransferase, calcium-binding protein 1, Annexin A2 and heat shock cognate 71 kDa protein are higher in livers from EVOO-fed rats with the CCl4 treatment compared with those from rats fed with corn oil, whereas the expression of COQ9, cAMP-dependent protein kinase type I-alpha regulatory subunit, phenylalanine hydroxylase and glycerate kinase are lower. "
|5.||Chronic Kidney Failure (Chronic Renal Failure)
11/15/1984 - "Studies of phenylalanine hydroxylase activity in patients with chronic renal failure: the effect of haemodialysis."
11/15/1984 - "The effect of serum from patients with renal failure on phenylalanine hydroxylase activity has been measured in normal individuals, patients with steady-state chronic renal failure and patients undergoing haemodialysis. "
11/15/1984 - "The results suggest that the low-plasma tyrosine levels observed in patients with chronic renal failure are due, at least in part, to the inhibition of phenylalanine hydroxylase."
|3.||DNA (Deoxyribonucleic Acid)
|5.||RNA Splice Sites
|6.||Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)
|7.||Annexin A2 (Annexin II)
|9.||RNA Precursors (Precursor, mRNA)
|10.||Complement Receptors (Complement Receptor)
|2.||Drug Therapy (Chemotherapy)