A 25-year-old woman with mild hyperphenylalaninemia developed disabling depression and panic attacks. The mutations on the phenylalanine hydroxylase gene indicated that she might be responsive to tetrahydrobiopterin therapy. Mutation analyses were performed by the John F. Kennedy Institute in Glostrup, Denmark. The response to tetrahydrobiopterin therapy was impressive at an oral dose of 50 mg ...

Telomerase replicates chromosome ends to facilitate continued cell division. Mutations that compromise telomerase function result in stem cell failure diseases, such as dyskeratosis congenita (DC). One such mutation (K170Δ), residing in the telomerase-recruitment factor TPP1, provides an excellent opportunity to structurally, biochemically, and genetically dissect the mechanism of such diseases...

Dosage compensation modifies the chromatin of X-linked genes to assure equivalent expression in sexes with unequal X chromosome dosage. In Drosophila dosage compensation is achieved by increasing expression from the male X chromosome. The ribonucleoprotein dosage compensation complex (DCC) binds hundreds of sites along the X chromosome and modifies chromatin to facilitate transcription. Loss of...

Dosage-balance selection preserves functionally redundant duplicates (paralogs) at the optimum for their combined expression. Here we present a model of the dynamics of duplicate genes coevolving under dosage-balance selection. We call this the compensatory drift model. Results show that even when strong dosage-balance selection constrains total expression to the optimum, expression of each dup...

We used a sequential approach to evaluate the relative and combined effects of different types of behavioral treatments, as well as dosage of methylphenidate (MPH), on the disruptive behavior of 3 students who had been diagnosed with attention deficit hyperactivity disorder. Results showed that individualized behavioral treatments produced decreases in disruptive behavior equivalent to MPH for ...

6.5 Range of Application, Dosage, Mode of Administration 6.5.1 General Information 6.5.2 Indications for Replacement Therapy Using Factor Concentrates 6.5.3 Dosage, Mode of Administration 6.5.3.1 Replacement in Children with Hemophilia A, B or von Willebrand Syndrome 6.5.3.2 Replacement in Adults with Hemophilia A, B or von Willebrand Syndrome 6.5.3.3 Indications and Recommended Doses for Treat...

6.5 Range of Application, Dosage, Mode of Administration 6.5.1 General Information 6.5.2 Indications for Replacement Therapy Using Factor Concentrates 6.5.3 Dosage, Mode of Administration 6.5.3.1 Replacement in Children with Hemophilia A, B or von Willebrand Syndrome 6.5.3.2 Replacement in Adults with Hemophilia A, B or von Willebrand Syndrome 6.5.3.3 Indications and Recommended Doses for Treat...

The Triplo-lethal locus (Tpl) is unique in its dosage sensitivity; no other locus in Drosophila has been identified that is lethal when present in three doses. Tpl is also haplo-lethal, and its function is still a mystery. Previous workers have found it nearly impossible to mutationally inactive Tpl other than by completely deleting the chromosomal region in which Tpl resides (83DE). We have ut...