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Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
TLDR
Treatment with L-DOPA resulted in normalisation of the CSF homovanillic acid concentration and a sustained improvement in parkinsonian symptoms, and expression studies are compatible with the severe clinical phenotype of the L205P homozygous patient carrying this recessively inherited mutation.
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A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
TLDR
The results suggest that a change in tyrosine hydroxylase causes the form of Segawa's syndrome that affects seven children in six families with seven affected children.
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Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
TLDR
The 'residual activity' of about 15% of the corresponding wild-type hTH (isoform hTH1), at substrate concentrations prevailing in vivo, is compatible with the clinical phenotype of the two Q381K homozygote patients carrying this recessively inherited mutation.
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Frequent sequence variant in the human tyrosine hydroxylase gene
A polymorphism of human tyrosine hydroxylase changing the amino acid 81Val to 81Met is located in exon 2 of the human tyrosine hydroxylase gene.
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Clinical tumor growth and comparison with proliferation markers in non-functioning (inactive) pituitary adenomas.
TLDR
There were no correlations to the clinical growth rate, but p53 expression correlated significantly to numbers of MiB-1 positiveuclei and PCNA positive nuclei and IGF-I expression was found to correlate inversely with age of patients.
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Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia.
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Sequence variant of the human cathepsin G gene
TLDR
A frequent polymorphism of the human cathepsin G gene is located in exon 4, and it is unclear whether this polymorphism is related to the G-cell reprograming or not.
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