Associated Papers
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.
Martínez-Pizarro A et al.
Nucleic Acid Therapeutics, 2024
Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.
Davis AA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
36693175 (PubMed )
Supplement: ccr-22-2177_supplementary_data_s1_suppds1.xlsx › Variants
Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.
Dietz S et al.
Oncotarget, 2017
29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_4_-_2._Progress
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C et al.
Molecular Genetics and Metabolism, 2012
Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.
Cerreto M et al.
Biochimica Et Biophysica Acta, 2011
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2011
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.
Daniele A et al.
Biochimica Et Biophysica Acta, 2008
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
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