![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessOxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial
Recent studies have suggested that long-term oxytocin administration can alleviate the symptoms of autism spectrum disorder (ASD); however, factors influencing its efficacy are still unclear. We conducted a si...
-
Article
Open AccessThe hnRNP-Htt axis regulates necrotic cell death induced by transcriptional repression through impaired RNA splicing
In this study, we identify signaling network of necrotic cell death induced by transcriptional repression (TRIAD) by α-amanitin (AMA), the selective RNA polymerase II inhibitor, as a model of neurodegenerative ce...
-
Article
Open AccessIn utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
Human mutations in PQBP1, a molecule involved in transcription and splicing, result in a reduced but architecturally normal brain. Examination of a conditional Pqbp1-knockout (cKO) mouse with microcephaly failed ...
-
Reference Work Entry In depth
Polyglutamine Diseases
Polyglutamine diseases are a major group of neurodegeneration induced by mutant proteins containing an expanded polyglutamine tract sequence. In this chapter, recent findings on aggregation process and metabol...
-
Article
Polyglutamine diseases: a transcription disorder?
Various molecular processes including unfolded protein response, protein transport, synaptic transmission and transcription are implicated in the pathology of polyglutamine diseases caused by the expanded po...
-
Article
Identification of a single nucleotide polymorphism showing no insulin-mediated suppression of the promoter activity in the human insulin receptor substrate 2 gene
Abstract
-
Article
A polymorphism in the 5' untranslated region and a Met229→ Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to Type II diabetes mellitus
Aims/hypothesis. The cumulative effects of several thrifty factors could contribute to the pathogenesis of Type II (non-insulin-dependent) diabetes mellitus. We screened the human UCP1 gene (UCP1
-
Article
[18F]-Fluorodeoxyglucose-positron emission tomography findings in preterm infants with severe periventricular leukomalacia and hypsarrhythmia
Two preterm infants with extensive periventricular leukomalacia (PVL) were examined by [18F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) at the corrected ages of 18 and 34 days. They showed similar...
-
Chapter and Conference Paper
Work on Primary Cesium Beam Frequency Standard at CRL
Initially, beam tube experiments adopted an H-plane-bend Ramsey cavity using an E-plane feed and a solenoid coil to make a uniform C-field [1], [2]. This system is similar to the Cs 1 and 2 atomic clocks at PT...
-
Article
Studies on retrograde cholecystography in hepato-biliary disoders