Peining Li

TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.

TL;DR: It is suggested that the elevated α-Klotho level mimics aspects of the normal response to hyperphosphatemia and implicate α-Lotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they have implications for the pathogenesis and treatment of renal osteodystrophy in patients with kidney failure.

TL;DR: It is found that gentamicin treatment reduced GAG accumulation in Hurler cells to a normal level, and the suppression of premature stop mutations may provide an effective treatment for Hurler syndrome patients with premature start mutations in the IDUA gene.

TL;DR: Research applications of these single molecule single cells DNA and RNA FISH techniques have visualized intra-nuclear genomic structure and sub-cellular transcriptional dynamics of many genes and revealed their functions in various biological processes.

TL;DR: Results provide further evidence of mutational heterogeneity for MPS II and underlying sequence directed mutagenesis mechanisms for some recurrent mutations in the IDS gene were proposed.