A5065066488- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Gene expression and cancer classification
- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- RNA and protein synthesis mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Cardiovascular Effects of Exercise
- Cardiomyopathy and Myosin Studies
- Biofuel production and bioconversion
- Cancer Genomics and Diagnostics
- MRI in cancer diagnosis
- Innovation and Socioeconomic Development
- Radiomics and Machine Learning in Medical Imaging
- Hedgehog Signaling Pathway Studies
- DNA Repair Mechanisms
- Genetic and rare skin diseases.
- Plant Virus Research Studies
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Sustainable Supply Chain Management
- Genetic Mapping and Diversity in Plants and Animals
Research Institute of Forestry
2022
Chinese Academy of Forestry
2022
University of Chinese Academy of Sciences
2019-2020
Chinese Academy of Sciences
1998-2019
Yale University
2015-2019
Beijing Institute of Big Data Research
2019
University of Graz
2016
Hospital Italiano de Montevideo
2016
Medical University of Graz
2016
Emory University
2014-2015
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I II (TD TD II). A second, as yet unidentified, also causes HCH. In this study, we used sequencing analysis determine frequency of FGFR3 mutations for each phenotype in 324 cases from International Skeletal Dysplasia Registry (ISDR). Our data suggest that there a considerable overlap genotype between ACH Thus, it important test found...
Despite the examples of protein evolution via mutations in coding sequences, we have very limited understanding on gene network changes cis-regulatory elements. Using galactose as a model, here show how regulatory promoters contribute to evolved activity between two yeast species. In Saccharomyces cerevisiae, combinatorially replace all by their counterparts from paradoxus, measure resulting inducibility profiles, and model results. Lowering relative strength GAL80-mediated negative feedback...
Point mutations in the zone of polarizing activity regulatory sequence (ZRS) are known to cause human limb malformations. Although most preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation position 404 ZRS causes more severe Werner mesomelic syndrome (WMS) for which malformations include distal arm leg bones addition hands and/or feet. Of than 15 reported families with mutations, only one homozygous individual has been reported, no change phenotype compared...
The spatiotemporal organization of chromatin plays central roles in cellular function. ribosomal DNA (rDNA) undergoes dynamic structural changes during mitosis and stress. Here, we developed a CRISPR-based imaging system tracked the condensation dynamics rDNA live yeast cells under glucose starvation. We found that acute starvation triggers rapid rDNA. Time-lapse microscopy revealed two stages for condensation: "primary stage," when relaxed forms higher order loops or rings, "secondary wehen...
Abstract Accurate measurement of the tumor fraction (TF) in circulating cell-free DNA (cfDNA) allows estimation burden non-invasively, potentially useful guiding treatment decisions, monitoring response, and detecting minimal residual disease. 5-hydroxymethylation cytosine (5hmC) marks activation cancer drivers downstream gene targets, has been shown to positively correlate with expression regulation. Here we trained a machine learning (ML) model predict TF tumor-naive way from 5hmC-enriched...
Despite advances made in understanding the effects of promoter structure on transcriptional activity, limited knowledge exists regarding role played by chromatin architecture transcription. Previous work hypothesized that transcription from bidirectional GAL1/GAL10 is controlled through looping its UAS region around a nonstandard nucleosome. Here, editing at high resolution, we provide insights into expression control. We demonstrate first and fourth Gal4 binding sites within do not...
Previously, we reported a rare X-linked disorder, Uruguay syndrome in single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite lack of exercise cardiac ventricular leading to premature death.An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis 3 affected males. Exome sequencing conducted one male identify the disease-causing gene variant. A splice site variant (c.502-2A>G) FHL1 highly suspicious...
Abstract Gene–environment (G–E) interaction analysis has been extensively conducted for complex diseases. In marginal analysis, the common practice is to conduct likelihood‐based (and other “standard”) estimation with each model, and then select significant G–E interactions main effects based on p values multiple comparisons adjustment. One limitation of this approach that identification results often do not respect “main effects, interactions” hierarchy, which stressed in recent analyses....
Abstract Response selective sampling design is commonly adopted in genetic epidemiologic study because it can substantially reduce time cost and increase power of identifying deleterious variants predispose to human complex disease comparing with prospective design. The proportional odds model (POM) be used fit data obtained by this Unlike the logistic regression model, estimated effect based on POM taking as being enrolled prospectively inconsistent. So resulted Wald test not satisfactory....
In cancer research, population-based survival analysis has played an important role. this article, we conduct on patients with brain tumors using the SEER (Surveillance, Epidemiology, and End Results) database from NCI (National Cancer Institute). It been recognized that models have spatial temporal variations which are caused by multiple factors, but such usually not “abrupt” (that is, they should be smooth). As such, spatially temporally pooling all data analyzing each spatial/temporal...
Laccases (EC 1.10.3.2) have been widely considered to participate in the metabolic processes of lignin synthesis, osmotic stress response, and flavonoid oxidation higher plants. The research into Populus trichocarpa laccase focused on synthesis past few years. In this study, for first time, a comprehensive analysis 53 copies P. genome was conducted. Positive selection using branch-site model indicated that LAC genes terrestrial plants undergone selective pressure adaptive evolution. On basis...