نتایج جستجو برای: penetrant agent
تعداد نتایج: 254784 فیلتر نتایج به سال:
Thirteen of 141 cases (9 percent) of overt, biopsy proven coeliac disease had a definitely affected relative. The pattern of inheritance in these families is compatible with an incompletely penetrant autosomal dominant gene. There was a female preponderance in the adults and the sporadic cases, but not in the children or the familial cases. The series included a pair of concordant and probably ...
A series of pyrido[3,4-d]azepines that are potent and selective 5-HT2C receptor agonists is disclosed. Compound 7 (PF-04781340) is identified as a suitable lead owing to good 5-HT2C potency, selectivity over 5-HT2B agonism, and in vitro ADME properties commensurate with an orally available and CNS penetrant profile. The synthesis of a novel bicyclic tetrasubstituted pyridine core template is ou...
Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally. We present the first reported case of a patient with a CPA tumor and a...
Huntington's disease (HD) is a fully penetrant autosomal-dominant inherited neurological disorder caused by expanded CAG repeats in the Huntingtin gene. Transcriptional dysfunction, excitotoxicity, and oxidative stress have all been proposed to play important roles in the pathogenesis of HD. This study was designed to explore the therapeutic potential of mithramycin, a clinically approved guano...
Human immunodeficiency virus (HIV)-associated neurocognitive disorders (HAND) is a significant source of disability in the HIV-infected population. Even with stringent adherence to anti-retroviral therapy, >50% of patients living with HIV-1 will develop HAND (Heaton et al., 2010). Because suppression of viral replication alone is not enough to stop HAND progression, there is a need for an adjun...
Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal-dominant skin disease. It is characterized by a mixture of hyperand hypo-pigmented macules on the dorsal aspects of the hands and feet (Figure 1). The disorder typically has its onset during infancy or early childhood, stops spreading before adolescence and lasts for life. It was clarified in 2003 that a heterozygous mu...
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