A5017171605- Acute Myeloid Leukemia Research
- Epigenetics and DNA Methylation
- Parkinson's Disease Mechanisms and Treatments
- Restless Legs Syndrome Research
- Prenatal Screening and Diagnostics
- Genetic Neurodegenerative Diseases
- Cancer-related gene regulation
- Ubiquitin and proteasome pathways
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Dysphagia Assessment and Management
- Gene expression and cancer classification
- Lung Cancer Research Studies
- Fetal and Pediatric Neurological Disorders
- Neuroblastoma Research and Treatments
- MicroRNA in disease regulation
- NF-κB Signaling Pathways
- Mitochondrial Function and Pathology
- Immune cells in cancer
- Lung Cancer Treatments and Mutations
- Ginseng Biological Effects and Applications
- Neurogenetic and Muscular Disorders Research
Helmholtz Zentrum München
2017-2025
Xiangya Hospital Central South University
2013-2025
Central South University
2013-2025
Nanchong Central Hospital
2025
Technical University of Munich
2025
Capital Medical University
2025
North Sichuan Medical University
2025
Sir Run Run Shaw Hospital
2021-2024
Case Western Reserve University
2020-2024
University Hospitals of Cleveland
2022-2024
Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool transcriptome-based applications beyond the limitations of microarrays, we sought systematically evaluate performance RNA-seq-based and microarray-based classifiers this MAQC-III/SEQC study prediction using neuroblastoma as model.We generate gene profiles from 498 primary neuroblastomas both 44 k microarrays. Characterization...
This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in plasma of pregnant women and infer underlying mechanism that allows such statistical modeling.Autosomal regional read counts from whole-genome massively parallel single-end sequencing circulating cell-free (ccfDNA) 25 312 were used train multivariate model. The pretrained model was then applied 505 samples assess performance SeqFF against known methodologies calculations.Pearson's correlation...
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
PurposeNoninfectious uveitis results in vision loss and ocular complications without adequate treatment. We compared the risk of developing between patients with noninfectious intermediate uveitis, posterior or panuveitis (NIIPPU) matched controls.DesignRetrospective analysis insurance claims data (OptumHealth, Eden Prairie, MN; January 1, 1998–March 31, 2012).ParticipantsCases 18 to 64 years age 2 more NIIPPU diagnoses (International Classification Diseases, 9th Revision, Clinical...
Abstract BACKGROUND The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome aneuploidies (chromosomes 13, 18, 21, X, and Y). Collectively, they account for only 30% all live births with a chromosome abnormality. Various structural changes, such as microdeletion/microduplication (MD) syndromes are more common but challenging to detect. Recently, several publications have shown results detection MDs by deep sequencing. These...
Sirtuin 5 (SIRT5), a mitochondrial class III NAD-dependent deacetylase, plays controversial roles in tumorigenesis and chemoresistance. Accordingly, its role ovarian cancer development drug resistance is not fully understood. Here, we demonstrate that SIRT5 increased tissues compared to expression normal this predicts poor response chemotherapy. levels were also found be higher cisplatin-resistant SKOV-3 CAOV-3 cells than cisplatin-sensitive A2780 cells. Furthermore, protein was revealed...
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number causative genes have not yet been recognized. We aimed to investigate this paucity diagnoses. Methods undertook weighted burden analysis whole‐exome sequencing (WES) data from 138 individuals unresolved generalized etiology, followed by additional case‐finding international databases, first for the gene implicated ( VPS16 ), and then other functionally...
Abstract Colorectal cancer is one of the most common cancers in world. Although genomic mutations and single nucleotide polymorphisms have been extensively studied, epigenomic status colorectal patient tissues remains elusive. Here, together with transcriptomic analysis, we use ChIP-Seq to profile active enhancers at genome wide level paired (tumor adjacent from same patients). In total, sequence 73 pairs generate 147 H3K27ac ChIP-Seq, 144 RNA-Seq, whole sequencing 86 H3K4me3 samples. Our...
Abstract Disease progression prediction and therapeutic drug target discovery for Coronavirus disease 2019 (COVID-19) are particularly important, as there is still no effective strategy severe COVID-19 patient treatment. Herein, we performed multi-platform omics analysis of serial plasma urine samples collected from patients during the course COVID-19. Integrative analyses these data revealed several potential targets, such ANXA1 CLEC3B. Molecular changes in indicated dysregulation...
NOTCH-dependent signaling pathways are critical for normal bone remodeling; however, it is unclear if dysfunctional NOTCH activation contributes to inflammation-mediated loss, as observed in rheumatoid arthritis (RA) patients. We performed RNA sequencing and pathway analyses mesenchymal stem cells (MSCs) isolated from transgenic TNF-expressing mice, a model of RA, identify responsible decreased osteoblast differentiation. 53 were dysregulated MSCs RA among which expression genes encoding...
Abstract N-alpha-acetylation is one of the most common co-translational protein modifications in humans and essential for normal cell function. NAA10 encodes enzyme NAA10, which catalytic subunit N-terminal acetyltransferase A (NatA) complex. The auxiliary regulatory subunits NatA complex are NAA15 Huntington-interacting (HYPK), respectively. Through a genotype-first approach with exome sequencing, we identified phenotypically characterized 30 individuals from unrelated families 17 different...