Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene

No abstract is available for this paper.

• Publication year

  1992

• Venue

  Human Mutation

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/humu.1380010104PMID 1301187
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular analysis of PKU haplotypes in the population of southern Poland

  2004cited by this paper
• Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

  1992cited by this paper
• Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

  1992cited by this paper
• A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs

  1992cited by this paper
• Phenylketonuria mutation in southern Europeans.

  1991cited by this paper
• A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

  1991cited by this paper
• A new single base substitution in a Japanese phenylketonuria (PKU) patient.

  1991cited by this paper
• Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.

  1991cited by this paper
• Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.

  1991cited by this paper
• Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

  1991cited by this paper
• Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

  1991cited by this paper
• Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

  1991cited by this paper
• Molecular characterization of PKU allele prevalent in southern Europe and Ireland

  1991cited by this paper
• Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

  1991cited by this paper
• A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

  1991cited by this paper
• The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

  1991cited by this paper
• Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.

  1991cited by this paper
• The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

  1991cited by this paper
• Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

  1991cited by this paper
• Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

  1991cited by this paper
• Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

  1991cited by this paper
• Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

  1991cited by this paper
• A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1

  1991cited by this paper
• Two distinct mutations at a single BamHI site in phenylketonuria.

  1991cited by this paper
• Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.

  1991cited by this paper
• Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

  1991cited by this paper
• Phenylketonuria missense mutations in the Mediterranean.

  1991cited by this paper
• Phenylketonuria mutation in southern Europeans.

  1991cited by this paper
• Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: phenylalanine hydroxylase.

  1991cited by this paper
• Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

  1991cited by this paper
• Molecular basis of phenotypic heterogeneity in phenylketonuria.

  1991cited by this paper
• Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

  1991cited by this paper
• Phenylketonuria and the phenylalanine hydroxylase gene.

  1991cited by this paper
• Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

  1991cited by this paper
• Recurrent mutation in the human phenylalanine hydroxylase gene.

  1990cited by this paper
• Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

  1990cited by this paper
• Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA.

  1990cited by this paper
• A Termination Mutation Prevalent inNorwegian Haplotype 7 Phenylketonuria Genes

  1990cited by this paper
• A single origin of phenylketonuria in Yemenite Jews

  1990cited by this paper
• Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

  1990cited by this paper
• A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

  1990cited by this paper
• Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

  1990cited by this paper
• Two mutations within the coding sequence of the phenylalanine hydroxylase gene

  1990cited by this paper
• Molecular genetics of PKU in Eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

  1990cited by this paper
• Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians

  1990cited by this paper
• RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

  1990cited by this paper
• Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria.

  1990cited by this paper
• Novel PKU mutation on haplotype 2 in French-Canadians.

  1989cited by this paper
• [Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene].

  1989cited by this paper
• Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

  1989cited by this paper
• CpG dinucleotides are mutation hot spots in phenylketonuria.

  1989cited by this paper
• Phenylketonuria: detection of a frequent haplotype 4 allele mutation

  1989cited by this paper
• Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

  1989cited by this paper
• Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).

  1989cited by this paper
• Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

  1989cited by this paper
• Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

  1989cited by this paper
• Mendelian hyperphenylalaninemia.

  1988cited by this paper
• Outcome of the Patients Detected by Newborn Screening in Japan

  1988cited by this paper
• Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

  1988cited by this paper
• An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

  1987cited by this paper
• Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases.

  1987cited by this paper
• GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

  1987cited by this paper
• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

  1986cited by this paper
• Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.

  1986cited by this paper
• Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

  1986cited by this paper
• Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

  1985cited by this paper
• The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

  1984cited by this paper
• Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

  1983cited by this paper

• Diagnosticul prenatal al fenilcetonuriei: experienţa unui centru terţiar

  2024cites this paper
• Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria

  2022cites this paper
• Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency

  2021cites this paper
• Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

  2021cites this paper
• Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

  2020cites this paper
• Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

  2019cites this paper
• Genetic compensation triggered by mutant mRNA degradation

  2019cites this paper
• The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability

  2019cites this paper
• Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

  2018cites this paper
• Genetic compensation is triggered by mutant mRNA degradation

  2018cites this paper
• Genetics of Phenylketonuria: Then and Now

  2016cites this paper
• Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity

  2016cites this paper
• Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency

  2016cites this paper
• Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

  2015cites this paper
• Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

  2015cites this paper
• Chapter 92 – Amino Acid Metabolism

  2013cites this paper
• Patterns and determinants of variation in functional genomics phenotypes in the yeast Saccharomyces cerevisiae

  2012cites this paper
• Rapid screening of phenylketonuria using a CD microfluidic device.

  2011cites this paper
• Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

  2009cites this paper
• Does dietary DHA improve neural function in children? Observations in phenylketonuria.

  2009cites this paper
• Omega-3 LC-PUFA Supply and Neurological Outcomes in Children With Phenylketonuria (PKU)

  2009cites this paper
• PKU in Minas Gerais State, Brazil: Mutation Analysis

  2008cites this paper
• Dominant versus recessive: Molecular mechanisms in metabolic disease

  2008influential citation
• Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.

  2006influential citation
• MUTATION IN BRIEF

  2005cites this paper
• Children, and a Scientist The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded

  2004cites this paper
• Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria.

  2001cites this paper
• Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

  2001cites this paper
• Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

  2001cites this paper
• Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria

  2001cites this paper
• A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

  2001cites this paper
• Genetic implications for newborn screening for phenylketonuria.

  2001cites this paper
• The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist

  2000cites this paper
• Molecular Correlations in Phenylketonuria: Mutation Patterns and Corresponding Biochemical and Clinical Phenotypes in a Heterogeneous California Population

  1999cites this paper
• The structural basis of phenylketonuria.

  1999cites this paper
• The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

  1999cites this paper
• Historical aspects and overview of research on phenylketonuria

  1999cites this paper
• Haplotypes and mutations of the PAH locus in Egyptian families with PKU

  1999cites this paper
• MINIREVIEW The Structural Basis of Phenylketonuria

  1999cites this paper
• In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

  1998cites this paper
• Hereditary hemochromatosis: gene discovery and its implications for population-based screening.

  1998cites this paper
• Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X

  1998cites this paper
• A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

  1998cites this paper
• Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions

  1998cites this paper
• Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

  1998cites this paper
• Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

  1997cites this paper
• Tyrosine supplementation for phenylketonuria treatment.

  1996cites this paper
• PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

  1996cites this paper
• Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

  1996cites this paper
• DNA methylation and the origin of complement factor B polymorphism.

  1995cites this paper
• The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme

  1995cites this paper
• Complete Spectrum of PAH Mutations in Tataria: Presence of Slavic, Turkic and Scandinavian Mutations

  1995cites this paper
• Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme.

  1995cites this paper
• Structure and function of the aromatic amino acid hydroxylases.

  1995cites this paper
• Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

  1995cites this paper
• Whatever happened to PKU?

  1995cites this paper
• Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

  1995cites this paper
• Characterization of Phenylketonuria Alleles in the Italian Population

  1995cites this paper
• Phenylketonuria mutations in southern Chinese detected by denaturing gradient gel electrophoresis in exon 7 of PAH gene

  1995influential citation
• Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: Multiple gene rearrangements and modulation of splice site usage result in extensive diversification

  1995cites this paper
• Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy.

  1995cites this paper
• Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

  1995cites this paper
• The genetic contribution to the phenotype

  1995cites this paper
• Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli.

  1995cites this paper
• Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

  1995cites this paper
• Mutation screening versus gene scanning for genotyping phenylketonuria patients

  1994cites this paper
• The rates and patterns of deletions in the human factor IX gene.

  1994cites this paper
• Functional characterization of a unique liver gene promoter.

  1994cites this paper
• Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes

  1994cites this paper
• Origins of Hyperphenylalaninemia in Israel

  1994cites this paper
• Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia

  1994cites this paper
• Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene

  1994cites this paper
• Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

  1994cites this paper
• Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA

  1994cites this paper
• Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

  1994cites this paper
• Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

  1994cites this paper
• Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene

  1994cites this paper
• Phenotype distribution in the Spanish phenylketonuria population and related genotypes

  1994cites this paper
• Rapid detection of phenylketonuria mutations by non‐radioactive single‐strand conformation polymorphism analysis

  1994cites this paper
• Non‐phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis

  1994cites this paper
• Phenylketonuria in Southern Poland: A new splice mutation in intron 9 at the PAH locus

  1994cites this paper
• Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients

  1994cites this paper
• Population genetics of phenylketonuria

  1994cites this paper
• Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.

  1994cites this paper
• Three Polymorphisms but No Disease-Causing Mutations in the Proximal Part of the Promoter of the Phenylalanine Hydroxylase Gene

  1993cites this paper
• Genetic background of clinical homogeneity of phenylketonuria in Poland.

  1993cites this paper
• ‘Celtic’ Phenylketonuria Chromosomes Found? Evidence in Two Regions of Quebec Province

  1993cites this paper
• Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria

  1993cites this paper
• Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

  1993cites this paper
• Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

  1993cites this paper
• Comparison of genotype and intellectual phenotype in untreated PKU patients.

  1993cites this paper
• Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria

  1993cites this paper
• Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

  1993cites this paper
• Ionizing radiation, genetic risk estimation and molecular biology: impact and inferences.

  1993cites this paper
• Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

  1992cites this paper