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Alzheimer’s disease (AD) is a progressive neurodegenerative disorder caused by the interplay of multiple genetic and non-genetic… Expand OBJECTIVES
Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation… Expand We report maternal uniparental disomy of chromosome 2 (matUPD2) in a 9-month-old girl presenting with hepatocerebral… Expand We have performed a metabolite quantitative trait locus (mQTL) study of the 1H nuclear magnetic resonance spectroscopy (1H NMR… Expand The Ten-Eleven Translocation (TET) oncogen family members include TET1, TET2, and TET3. The TET1 oncogene was first identified as… Expand Genetic aberrations in neuroblastoma (NB) have been extensively characterized over the last years. Alterations of the short arm… Expand CXXC4 gene encodes Dishevelled-binding protein, functioning as a negative regulator of WNT - beta-catenin signaling pathway… Expand HOX11L1 is a homeobox gene involved in peripheral nervous system development as confirmed by knockout mice exhibiting megacolon… Expand The autosomal recessive mutation mnd2 is responsible for a lethal neuromuscular wasting disorder in the mouse. A high-resolution… Expand The human gene for smooth muscle actin (enteric type, ACTA3) has been isolated, and three overlapping clones, lambda HACTSG-17… Expand