A5015750970- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Hematopoietic Stem Cell Transplantation
- Epigenetics and DNA Methylation
- Genomics and Phylogenetic Studies
- Congenital Heart Disease Studies
- Gene expression and cancer classification
- Protein Degradation and Inhibitors
- Genomics and Rare Diseases
- Congenital heart defects research
- Glioma Diagnosis and Treatment
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Machine Learning in Bioinformatics
- Protein Structure and Dynamics
- Metabolism and Genetic Disorders
- Medical Imaging Techniques and Applications
- Gout, Hyperuricemia, Uric Acid
- Enzyme Structure and Function
- T-cell and B-cell Immunology
- Chromatin Remodeling and Cancer
- Immunodeficiency and Autoimmune Disorders
- Environmental DNA in Biodiversity Studies
Children's Hospital of Philadelphia
2016-2025
Tianjin Medical University
2023-2024
Second Hospital of Tianjin Medical University
2023-2024
Huadong Hospital
2024
Fudan University
2024
Philadelphia University
2023
Chengde Medical University
2021-2022
Maternal and Child Health Care Hospital of Bao'an
2020
Jinan University
2020
Triangle
2019
Identifying relationships between function, amino acid sequence, and protein structure represents a major challenge. In this study, we propose bioinformatics approach that identifies functional keywords in the Swiss-Prot database correlate with intrinsic disorder. A statistical evaluation is employed to rank significance of these correlations. Protein sequence data redundancy relationship length were taken into consideration ensure quality inferences. Over 200 000 proteins from analyzed...
Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable disorder, but specific genetic factors underlying risk remain elusive. To assess the role of structural variation in ADHD, we identified 222 inherited copy number variations (CNVs) within 335 ADHD patients their parents that were not detected 2026 unrelated healthy individuals. Although no excess CNVs, either deletions or duplications, found cohort relative to controls, rare CNV-associated gene set was...
Abstract The Mitomap database of human mitochondrial DNA (mtDNA) information has been an important compilation mtDNA variation for researchers, clinicians, and genetic counselors the past 25 years. protocol shows how users may look up gene loci, search public sequences, browse or reported general population nucleotide variants as well those in clinical disease. Within is powerful sequence analysis tool DNA, Mitomaster. Mitomaster gives step‐by‐step instructions showing to submit sequences...
Currently, the understanding of relationships between function, amino acid sequence, and protein structure continues to represent one major challenges modern science. As many as 50% eukaryotic proteins are likely contain functionally important long disordered regions. Many wholly but still possess numerous biologically functions. However, number experimentally confirmed with known biological functions is substantially smaller than their actual in nature. Therefore, there a crucial need for...
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs single study uniform array platform computational process. have catalogued characterized 54,462 individual CNVs, 77.8% which were identified multiple unrelated individuals. These nonunique mapped to 3272 distinct regions genomic...
Intrinsically disordered proteins (IDPs) and intrinsically regions (IDRs) lack stable tertiary and/or secondary structure yet fulfills key biological functions. The recent recognition of IDPs IDRs is leading to an entire field aimed at their systematic structural characterization determination mechanisms action. Bioinformatics studies showed that are highly abundant in different proteomes carry out mostly regulatory functions related molecular signal transduction. These activities complement...
Biologically active proteins without stable ordered structure (i.e., intrinsically disordered proteins) are attracting increased attention. Functional repertoires of and very different, the ability to differentiate whether a given function is associated with intrinsic disorder or well-folded protein crucial for modern science. However, there large gap between number experimentally confirmed be their actual in nature. As result, studies functional properties proteins, while helpful revealing...
Abstract Human adipose tissue secretes a number of proinflammatory mediators that may contribute to the pathophysiology obesity-related disorders. Understanding regulatory pathways control their production is paramount developing effective therapeutics treat these diseases. Using primary human adipose-derived stem cells as source preadipocytes and in vitro differentiated adipocytes, we found IL-8 monocyte chemoattractant protein-1 (MCP-1) are constitutively secreted by both cell types...
Formation of the synaptic basal lamina at vertebrate neuromuscular junction involves accumulation numerous specialized extracellular matrix molecules including a specific form acetylcholinesterase (AChE), collagenic-tailed form. The mechanisms responsible for its localization sites nerve– muscle contact are not well understood. To understand AChE localization, we synthesized fluorescent conjugate fasciculin 2, snake α-neurotoxin that tightly binds to catalytic subunit. Prelabeling on surface...
A high-resolution genomic profiling and comprehensive targeted analysis of INI1/SMARCB1 a large series pediatric rhabdoid tumors was done. The aim to identify regions copy number change loss heterozygosity (LOH) that might pinpoint additional loci involved in the development or progression define spectrum alterations INI1 this malignancy.
Autism spectrum disorders (ASDs) comprise a constellation of highly heritable neuropsychiatric disorders. Genome-wide studies autistic individuals have implicated numerous minor risk alleles but few common variants, suggesting complex genetic model with many contributing loci. To assess commonality biological function among rare alleles, we compared functional knowledge genes overlapping inherited structural variants in idiopathic ASD subjects relative to healthy controls. In this study show...
<h3>Abstract</h3> <h3>Background</h3> Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients usually tested only for deletions and common mutations of mtDNA which account 5–40% cases, depending on the study. However, not known. <h3>Methods</h3> We analysed whole a cohort 743 patients suspected manifesting mitochondrial disease, after excluding mutations. Both heteroplasmic homoplasmic variants were identified using two complementary...
Pediatric brain and spinal cancers are collectively the leading disease-related cause of death in children; thus, we urgently need curative therapeutic strategies for these tumors. To accelerate such discoveries, Children's Brain Tumor Network (CBTN) Pacific Neuro-Oncology Consortium (PNOC) created a systematic process tumor biobanking, model generation, sequencing with immediate access to harmonized data. We leverage data establish OpenPBTA, an open collaborative project over 40 scalable...
Stemness-associated cell states are linked to chemotherapy resistance in AML. We uncovered a direct mechanistic link between expression of the stem transcription factor GATA2 and drug resistance. The GATA-binding protein 2 (GATA2) plays central role blood generation maintenance. find substantial intra- inter-patient variability across AML patient samples. varies by molecular subtype has been outcome. In murine model, KMT2A-MLL3 driven originating from or immature progenitor population have...
Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) leukemia. Although its exact pathogenesis unknown, aAA thought be driven Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two patients somatic mutations in I genes. We...
A new method was devised to visualize actin polymerization induced by postsynaptic differentiation signals in cultured muscle cells. This entails masking myofibrillar filamentous (F)-actin with jasplakinolide, a cell-permeant F-actin–binding toxin, before synaptogenic stimulation, and then probing assembly fluorescent phalloidin. With this procedure, associated newly acetylcholine receptor (AChR) clustering heparin-binding growth-associated molecule–coated beads agrin observed. The local...
Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This be partially attributed to elusive mutations the known IRD genes, which are not easily identified by targeted next-generation sequencing (NGS) or Sanger approaches. We hypothesized that copy-number variations (CNVs) a major contributor genetic causality IRDs.Twenty-eight cases previously unsolved with NGS were investigated...
Objectives Inflammatory cytokines (ICs) play an important role in erectile dysfunction (ED). Previous studies have demonstrated that most ED patients high levels of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) and interleukin-8 (IL-8). The causality between 41 ICs is investigated using the Mendelian randomization (MR) approach. Methods Single nucleotide polymorphisms (SNPs) exposure data came from a genome-wide association study (GWAS) 8293 subjects. At same time, FINNGEN R9...
Abstract Background Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited acquired risk for various human diseases. The increasing availability high-resolution genome surveillance platforms provides opportunity rapidly assessing research clinical samples CNV content, as well determining the potential pathogenicity identified variants. However, few informatics tools accurate efficient detection...
Abstract CDK9 associates with T‐type cyclins and positively regulates transcriptional elongation by phosphorylating RNA polymerase II (RNAPII) negative factors. However, it is unclear whether required for transcription of most genes RNAPII or alternatively plays a role regulating the expression restricted subsets genes. We have investigated direct effects inhibiting cellular activity in global gene human cells using dominant‐negative form (dnCDK9). also compared inhibition to pharmacological...