Publications by authors named "Ningyan Hu"

In myotonic dystrophy type 1 (DM1), deregulated alternative splicing of the muscle chloride channel Clcn1 causes myotonia, a delayed relaxation of muscles due to repetitive action potentials. The degree of weakness in adult DM1 is associated with increased frequency of oxidative muscle fibers. However, the mechanism for glycolytic-to-oxidative fiber type transition in DM1 and its relationship to myotonia are uncertain.

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Patients with myotonic dystrophy type 1 (DM1) identify chronic fatigue as the most debilitating symptom, which manifests in part as prolonged recovery after exercise. Clinical features of DM1 result from pathogenic gain-of-function activity of transcripts containing an expanded microsatellite CUG repeat (CUG). In DM1 mice, therapies targeting the CUG transcripts correct the molecular phenotype, reverse myotonia, and improve muscle pathology.

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In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine "liquid biopsy," droplet digital PCR, and sequencing of PCR products to identify a novel cryptic splice site in intron 67 that causes dystrophinopathy. Pseudoexon inclusion is 35% in urine cells, 34% in urine extracellular RNA (exRNA), and 54% in muscle biopsy tissue, but absent in serum exRNA.

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During drug development, tissue samples serve as indicators of disease activity and pharmacodynamic responses. Reliable non-invasive measures of drug target engagement will facilitate identification of promising new treatments. Here we develop and validate a novel bi-transgenic mouse model of myotonic dystrophy type 1 (DM1) in which expression of either DsRed or GFP is determined by alternative splicing of an upstream minigene that is mis-regulated in DM1.

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Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD).

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The present study aims to determine the effect of AMPK on etoposide-induced apoptosis of cancer cells. Our results revealed that etoposide induced AMPK activation in prostate C4-2 cancer cells, an event that was attenuated by ATM siRNA. In A549 cells that lack LKB1, AMPK was unable to be activated by etoposide, which was restored by introduction of LKB1.

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Using nucleotide variation in the first internal transcribed spacer of nuclear ribosomal DNA, five different genotypes (designated G1-G5) have been identified and the preponderance of genotype G1 in humans and of genotype G3 in pigs led to the proposal that parasites bearing the two genotypes have an affinity for a particular host species. A subsequent study using eggs of genotype G1 from humans and G3 from pigs to infect pigs and mice indicated that there is a significant difference in the ability to infect and establish as larvae in mice and as adults in pigs between the two genotypes. Extending previous investigations, the present study investigated whether there are differences in development as designated by egg hatching, larvae migration and distribution in the mice between the Ascaris strains with known genotypes.

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In order to obtain further understanding of genetic structure and evolutionary relationship of Ascaris from humans and pigs, phylogeography study on 12 populations from six endemic regions in China was conducted using mitochondrial DNA markers (cytochrome c oxidase subunit 1 (COX1) and NAD1) and the software programs of DnaSP 5.0, Arlequin 3.0, MEGA 4.

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The aim of this study was to determine whether single Ascaris suum female could mate with multiple males. Seven sex-linked microsatellite markers were employed and paternal genetic analyses were conducted. Totally, 62 offspring individuals from three single females were screened, and the numbers of fathers in each family were determined using allele counting methods and the program GERUD, version 2.

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Objective: To investigate Paragonimus westermani infection in the intermediate hosts and animal reservoivs in Jiangxi Province.

Methods: Two forest farms in Jingan and Wanzai Counties and one town in Yushan County of Jiangxi Province were selected as pilots for epidemiological and retrospective survey. The intermediate hosts (snails, crabs) and reservoir hosts (cat, dog, civet cat, wildcat, etc.

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