Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.

Clinical biochemistry - 1 Aug 2017

Item Chike Bellarmine, Farhadi Somayeh, Schanzer Andrea, Greber-Platzer Susanne

Abstract excerpt

OBJECTIVES: Although high phenylalanine (phe) exposure has been shown to influence the DNA methylation status of leukocytes in hyperphenylalaninemia (HPA), the potential of DNA methylation changes as a biomarker of pretreatment high phe exposure in diet free newborns with HPA has not been explored. We therefore investigated the DNA methylation pattern of the phenylalanine hydroxylase (PAH) gene promoter at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5' Untranslated Regions
Share to CpG Islands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Infant, Newborn

Share to Nucleic Acid Denaturation

Share to Phenylalanine

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 28389235
DOI: 10.1016/j.clinbiochem.2017.04.001

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.PMID 28389235Read ↗

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.Semantic proximity Read ↗

Mutations in the phenylalanine hydroxylase gene: methods for their characterization.Semantic proximity Read ↗

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acidSemantic proximity Read ↗

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.Semantic proximity Read ↗

A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population.Semantic proximity Read ↗

New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.Semantic proximity Read ↗

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.Semantic proximity Read ↗

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.Semantic proximity Read ↗

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.Semantic proximity Read ↗

Genetic and epigenetic MTHFR gene variants in the mothers of attention-deficit/hyperactivity disorder affected children as possible risk factors for neurodevelopmental disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.