Background: CHRFAM7A is a human-restricted gene associated with neuropsychiatric and neurodegenerative disorders. The translated CHRFAM7A protein incorporates into the α7 nicotinic acetylcholine receptor (α7nAChR) leading to a hypomorphic receptor. Mechanistic insight from isogenic iPSC derived neuronal and mononuclear cells demonstrated that CHRFAM7A affects Ca signaling and activates small GTPase Rac1 leading to an actin cytoskeleton gain of function.
View Article and Find Full Text PDFIntroduction: Although both patients with kidney failure (KF) receiving hemodialysis (HD) and kidney transplant (KT) recipients (KTRs) have a high risk of bladder cancer, how this risk changes in the transition from dialysis to KT is unknown. In this study, we aimed to investigate the risk of bladder cancer in KTRs and patients on HD.
Methods: This was a nationwide longitudinal cohort study of 66,547 participants from the National Health Insurance Service cohort who started HD for KF or received KT from 2002 to 2020.
This study is a cross-sectional study and aims to determine the differences in lower limb muscle activation and variability at preferred, slow, and fast walking speeds according to age and fall risk. We divided 301 participants into groups based on fall risk (fall-risk vs. non-fall-risk).
View Article and Find Full Text PDFRecombinant GH16B β-agarase-catalyzed liquefaction of 5-7 %(w/v) melted agarose at 50 °C completely hydrolyzed agarose into neoagarohexaose (NA6) and neoagarotetraose (NA4). Subsequent saccharification by recombinant GH50A β-agarase or recombinant GH50A β-agarase/recombinant GH117A α-neoagarobiose hydrolase at 35 °C converted NA6/NA4 into neoagarobiose (NA2) or 3,6-anhydro-L-galactose (L-AHG)/D-galactose, respectively. Purification of NA6/NA4 and NA2 was achieved by Sephadex G-15 column chromatography, while L-AHG was purified by Sephadex G-10, achieving ≥ 98 % purity.
View Article and Find Full Text PDFATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
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