about
A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeuticsFine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophreniaRecommendations for locus-specific databases and their curationThe 5-HT deficiency theory of depression: perspectives from a naturalistic 5-HT deficiency model, the tryptophan hydroxylase 2Arg439His knockin mousePhenylketonuria: translating research into novel therapiesAdaptation of phenylalanine and tyrosine catabolic pathway to hibernation in bats28-way vertebrate alignment and conservation track in the UCSC Genome BrowserConvergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuriaPhenylalanine hydroxylase deficiency.The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulationPhenylalanine hydroxylase misfolding and pharmacological chaperones.BGMUT Database of Allelic Variants of Genes Encoding Human Blood Group Antigens.Selection for translation efficiency on synonymous polymorphisms in recent human evolution.FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.State-of-the-art 2003 on PKU gene therapy.Diet, genes and disease: implications for nutrition policy.Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsFunctional polymorphisms of the brain serotonin synthesizing enzyme tryptophan hydroxylase-2.Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and heightImpact of quaternary structure dynamics on allosteric drug discovery.Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.An exome array study of the plasma metabolome.The structural origin of metabolic quantitative diversity.Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating systemCorrection of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.Clinical therapeutics for phenylketonuria.Genetics of Phenylketonuria: Then and Now.Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian PedigreeAn Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria.Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population.Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.Probing the role of crystallographically defined/predicted hinge-bending regions in the substrate-induced global conformational transition and catalytic activation of human phenylalanine hydroxylase by single-site mutagenesis.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
PAHdb 2003: what a locus-specific knowledgebase can do.
@ast
PAHdb 2003: what a locus-specific knowledgebase can do.
@en
type
label
PAHdb 2003: what a locus-specific knowledgebase can do.
@ast
PAHdb 2003: what a locus-specific knowledgebase can do.
@en
prefLabel
PAHdb 2003: what a locus-specific knowledgebase can do.
@ast
PAHdb 2003: what a locus-specific knowledgebase can do.
@en
P2093
P356
P1433
P1476
PAHdb 2003: what a locus-specific knowledgebase can do.
@en
P2093
Christineh Sarkissian
David Konecki
David McDonald
Heidi Erlandsen
Lynne Prevost
Manyphong Phommarinh
Mélanie Hurtubise
Paula J Waters
Shannon Ryan
P304
P356
10.1002/HUMU.10200
P577
2003-04-01T00:00:00Z