A5101995882- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Morphological variations and asymmetry
- Evolutionary Psychology and Human Behavior
- Neurological diseases and metabolism
- Protein Kinase Regulation and GTPase Signaling
- Genetic Syndromes and Imprinting
- Digestive system and related health
- Mechanisms of cancer metastasis
- Biotin and Related Studies
- Nutrition, Genetics, and Disease
- Cancer-related Molecular Pathways
- Plant Disease Management Techniques
- Inflammatory Bowel Disease
- Bipolar Disorder and Treatment
- Nitrogen and Sulfur Effects on Brassica
- Genomics, phytochemicals, and oxidative stress
- Reproductive System and Pregnancy
- dental development and anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Kruppel-like factors research
- Bacillus and Francisella bacterial research
- Botany and Plant Ecology Studies
- Melanoma and MAPK Pathways
Guangdong 999 Brain Hospital
2023-2025
Wuhan Institute of Bioengineering
2025
Xi'an Jiaotong University
2020-2024
Chinese Academy of Civil Aviation Science and Technology
2024
Wellcome Sanger Institute
2024
Brain (Germany)
2023
Qingdao University
2023
Affiliated Hospital of Qingdao University
2023
The University of Queensland
2018-2021
Ministry of Agriculture and Rural Affairs
2021
Abstract Polygenic scores (PGS) have been widely used to predict disease risk using variants identified from genome-wide association studies (GWAS). To date, most GWAS conducted in populations of European ancestry, which limits the use GWAS-derived PGS non-European ancestry populations. Here, we derive a theoretical model relative accuracy (RA) across ancestries. We show through extensive simulations that RA based on significant SNPs can be predicted accurately modelling linkage...
There are mean differences in complex traits among global human populations. We hypothesize that part of the phenotypic differentiation is due to natural selection. To address this hypothesis, we assess allele frequencies trait-associated SNPs African, Eastern Asian, and European populations for ten using data large sample size (up ~405,000). show associated with height ([Formula: see text]), waist-to-hip ratio schizophrenia text]) significantly more differentiated than matched "control"...
Abstract Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2 V617F , common in the population, yet only a minority carriers develop MPN. Here we show that inherited polygenic loci underlie hematological traits influence clonal expansion. We identify risk scores (PGSs) monocyte count and plateletcrit as new factors positivity. PGSs several influenced different MPN subtypes, with low...
Human facial morphology is a combination of many complex traits. Little known about the genetic basis common morphological variation. Existing association studies have largely used simple landmark-distances as surrogates for phenotypes face. However, this can result in decreased statistical power and unclear inference shape changes. In study, we applied new image registration approach that automatically identified salient landmarks aligned sample faces using high density pixel points. Based...
Herein, we report the discovery and characterization of a novel class PAK4 inhibitors with quinazoline scaffold. Based on shape chemical composition ATP-binding pocket PAKs, chose 2,4-diaminoquinazoline series as starting point. Guided by X-ray crystallography structure-based drug design (SBDD) approach, 4-aminoquinazoline-2-carboxamide were designed synthesized. The inhibitors' selectivity, therapeutic potency, pharmaceutical properties optimized. One best compounds, 31 (CZh226), showed...
There has been much debate about why humans throughout the world differ in facial form. Previous studies of human skull morphology found levels among-population differentiation that were comparable to those neutral genetic markers, suggesting drift (neutral processes) played an important role influencing differentiation. However, variation soft-tissue not studied detail. In this study, we analyzed high-resolution 3D images form four Eurasian populations: Han Chinese, Tibetans, Uyghur and...
It is a long-standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population query genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D images; numerous biometric spaces examined for divergent between European Chinese, ranging from inter-landmark distances dense shape geometrics. Genome-wide association studies (GWAS) conducted...
Abstract Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands genetic variants associated with complex traits humans. However, it remains largely unclear whether these associations can be used non-European populations. Here, we seek to quantify the proportion variation for a trait shared between continental We estimated between-population correlation effects at all SNPs ( $$r_{g}$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML">...
Objectives To describe a case of Progressive Encephalopathy with or without Lipodystrophy (PELD), characterized by late onset neurological regression at 9 years old, due to homozygous c.974dupG variant in the BSCL2 gene. Methods An 11-year, 9-month-old girl repeated seizures over 2 underwent clinical assessment and genetic investigation. We also reviewed published literature. Results The patient exhibited mild intellectual disability, lipodystrophic appearance, precocious puberty, voracious...
The baculovirus insect cell expression system is pivotal for exogenous protein expression. However, serial passages of in cells often result defective virus generation and a rapid decline expression, limiting its wider application. Previous studies have shown that the late factor 5 (lef5) from other baculoviruses can enhance stability genes Autographa californica multiple nucleopolyhedrovirus (AcMNPV). In this study, we engineered diverse recombinant strains AcMNPV to express enhanced green...
Ulcerative colitis (UC) is considered an immune-mediated disease. The disorder of T-lymphocyte subsets plays important role in the pathogenesis UC. aim this study was to evaluate significance peripheral blood assessing disease severity and predicting clinical outcomes UC patients.The retrospective case-control performed 116 patients with active 90 healthy controls (HC). included were followed up for 180 days. Analyses t-test, Spearman's correlation coefficient, multivariable Cox regression...
Abstract Background Medium-chain triglyceride ketogenic diet (MCTKD) is previously less commonly used in China. This study was aimed to assess the efficacy and safety of modified MCTKD treatment drug-resistant epilepsy Chinese patients. Methods Patients with were enrolled receive Guangdong Sanjiu Brain Hospital during December 2020 September 2022. The contained fat that provided 50–70% total energy, as well proteins carbohydrates 20–30% 20% respectively. component composed medium-chain...
Abstract Polygenic scores (PGS) have been widely used to predict complex traits and risk of diseases using variants identified from genome-wide association studies (GWASs). To date, most GWASs conducted in populations European ancestry, which limits the use GWAS-derived PGS non-European populations. Here, we develop a new theory relative accuracy (RA, same ancestry as discovery population) across ancestries. We simulations real data UK Biobank evaluate our results. found various simulation...
Following the screening of an in-house natural product database, 1-phenanthryltetrahydroisoquinoline analogues were synthesized as novel PAK4 inhibitors.
Abstract Since the bipolar disorder (BD) signals identified by genome-wide association study (GWAS) often reside in non-coding regions, understanding biological relevance of these genetic loci has proven to be complicated. Transcriptome-wide studies (TWAS) providing a powerful approach identify novel disease risk genes and uncover possible causal at previously GWAS. However, methods did not consider importance epigenetic regulation gene expression. Here, we developed element-based...
Mutations in the Drosophila retinal degeneration B (D-rdgB) gene cause light-enhanced degeneration. Here, we report isolation of cDNA encoding human homologue D-rdgB and initial characterization products. Like D-rdgB, rdgB (H-rdgB) is a transmembrane protein with N-terminus sharing high homology to two closely related cytosolic proteins, phosphatidylinositol transfer (PITP) α β, indicating that like proteins belong family PITP proteins. Using Northern Western blotting, demonstrated expressed...
Abstract Background The discovery of selection signatures has enabled the identification genomics regions under selective pressure, enhancing knowledge evolutionary genotype-phenotypes. Sex chromosomes play an important role in species formation and evolution. Therefore, exploration on sex biological significance. Results In this study, we used Cross Population Extend Haplotype Homozygosity Test (XPEHH), F-statistics (F ST ) EigenGWAS to assess Z chromosome 474 broiler chickens via Illumina...
Abstract Background: Under-diagnosis is likely to be a problem in TANGO2- related disease, and the treatment strategies of it unknow. Case presentation: We report 7-year-old Chinese girl, who presented with epilepsy, developmental delay, neuroregression, episodes dyskinesia. In addition, she slipped into coma four times after generalized tonic-clonic seizure. A trio whole exome sequencing revealed homozygous single nucleotide variants TANGO2 gene. Eventually, started have vitamin B5,...
Abstract Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands genetic variants associated with complex traits humans. However, it remains largely unclear whether these associations can be used non-European populations. Here, we seek to quantify the proportion variation for a trait shared between continental We estimated between-population correlation effects at all SNPs ( r g ) or genome-wide significant g(GWS) height and body mass index (BMI)...
Abstract It is a long standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population query genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D images; numerous biometric spaces examined for divergent between European Chinese, ranging from inter-landmark distances dense shape geometrics. Genome-wide association analyses conducted...
Abstract Food preferences play a pivotal role in dietary choices and body weight regulation, yet the causal relationships complex pathways linking food liking to obesity remain elusive. Here, we employed two-sample Mendelian randomization (MR) analysis pleiotropic explore causalities shared loci between 187 ( N =161,625) five obesity-related phenotypes =100,716 322,154). MR revealed association two food-liking increased mass index (BMI), specifically, onion (β, 0.286; 95% CI, 0.185 0.387; P...
ABSTRACT TANGO2 deficiency disorder is often underdiagnosed and lacks an optimal treatment strategy. A 7‐year‐old Chinese girl presented with epilepsy, developmental delay, neuroregression, episodes of dyskinesia. Additionally, she lapsed into a comatose state following her the last generalized tonic–clonic seizure. Trio whole‐exome sequencing revealed compound heterozygous variants gene. Eventually, clinical signs symptoms significantly improved vitamin B5. severe neurodegenerative...