A5072260150- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Erythrocyte Function and Pathophysiology
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Cancer, Hypoxia, and Metabolism
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- Cancer-related molecular mechanisms research
- Acute Myeloid Leukemia Research
- Genomics and Phylogenetic Studies
- Phagocytosis and Immune Regulation
- RNA regulation and disease
- Electromagnetic Fields and Biological Effects
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cell death mechanisms and regulation
- Renal Transplantation Outcomes and Treatments
- Epigenetics and DNA Methylation
- Viral Infections and Vectors
University of Nebraska Medical Center
2010-2019
Nebraska Medical Center
2015
University of Nebraska at Omaha
2015
Creighton University
2013
Northwestern University
2004-2010
NorthShore University HealthSystem
2010
Pediatrics and Genetics
2005-2009
In this study, we compared the genomic integration efficiencies and transposition site preferences of Sleeping Beauty (SB or SB11), Tol2, piggyBac (PB) transposon systems in primary T cells derived from peripheral blood lymphocytes (PBL) umbilical cord (UCB). We found that PB demonstrated highest efficiency stable gene transfer PBL-derived cells, whereas SB11 Tol2 mediated intermediate lowest efficiencies, respectively. Southern hybridization analysis generated number integrants when to SB...
Zika virus (ZIKV) is a neurotrophic flavivirus that capable of infecting humans, leading to brain abnormalities during fetal development. The ZIKV infectivity in neural target cells remains poorly understood. Here, we found specifically infected glial fibrillary acidic protein- and S100B-positive primary human astrocytes derived from brains. In contrast, neuron-specific Class III β-tubulin (TuJ1)-positive neurons the astrocyte cultures SOX2-positive progenitor brains were less susceptible...
BRCA1 and BRCA2 play essential roles in maintaining the genome stability. Pathogenic germline mutations these two genes disrupt their function, lead to instability increase risk of developing breast ovarian cancers. BRCA have been extensively screened Caucasian populations, resulting information are used globally as standard reference clinical diagnosis, treatment prevention BRCA-related Recent studies suggest that can be ethnic-specific, raising question whether a Caucasian-based mutation...
The biological effect of radiofrequency (RF) fields remains controversial. We address this issue by examining whether RF can cause changes in gene expression. used the pulsed at a frequency 2.45 GHz that is commonly telecommunication to expose cultured human HL‐60 cells. serial analysis expression (SAGE) method measure on genome level. observed 221 genes altered their after 2‐h exposure. number affected increased 759 6‐h Functional classification reveals apoptosis‐related were among...
Background Transcripts expressed in eukaryotes are classified as poly A+ transcripts or A- based on the presence absence of 3′ A tail. Most identified so far transcripts, whereas remain largely unknown. Methodology/Principal Findings We developed TRD (Total RNA Detection) system for transcript identification. The detects through following steps: 1) depleting abundant ribosomal and small-size transcripts; 2) synthesizing cDNA without regard to status tail; 3) applying 454 sequencing...
Drug resistance is one of the main causes colon cancer recurrence. However, our understanding underlying mechanisms and availability therapeutic options remains limited. Here we show that expression pyruvate dehydrogenase kinase 4 (PDK4) positively correlated with drug cells induced by 5-fluorouracil (5-FU) treatment in drug-resistant but not drug-sensitive cells. Knockdown PDK4 sensitizes to 5-FU or oxaliplatin-induced apoptosis vitro increases effectiveness inhibition tumor growth a mouse...
Genetic aberrations contribute to acute myeloid leukemia (AML). However, half of AML cases do not contain the well-known detectable mostly by cytogenetic analysis, and these are classified as normal karyotype AML. Different outcomes suggest that this subgroup could be genetically heterogeneous. But lack genetic markers makes it difficult further study Using paired-end RNAseq method, we performed a transcriptome analysis in 45 including 29 AML, 8 abnormal without informaiton. Our identified...
Increasing evidence suggests that low-abundant transcripts may play fundamental roles in biological processes. In an attempt to estimate the prevalence of eukaryotic genomes, we performed a transcriptome analysis Drosophila using SAGE technique. We collected 244,313 tags from expressed embryonic, larval, pupae, adult, and testicular tissue. From these tags, identified 40,823 unique tags. Our showed 55% are novel without matches currently known transcripts, most have low copy numbers. Further...
Studying gene expression at different hematopoietic stages provides insights for understanding the genetic basis of hematopoiesis. We analyzed in human CD34(+) cells that represent stem-progenitor population (CD34(+) cells). collected >459,000 transcript signatures from cells, including de novo-generated 3' ESTs and existing sequences full-length cDNAs, ESTs, serial analysis (SAGE) tags, performed an extensive annotation on this large set sequences. determined genes expressed verified known...
Genetic predisposition plays a key role in the development of familial breast cancer. In spite strong clustering disease and extensive efforts made during past decade; however, progress has been slow identifying genetic for majority cancer families. The question arises therefore as to whether current approaches are adequate unknown predisposition. We analyzed eight members BRCA1-, BRCA2-, p53-, PTEN-negative family, which five had cancer, one is an obligate gene carrier, two were unaffected....
Abstract TAp63, a member of the p53 family, has been shown to regulate energy metabolism. Here, we report c oiled oil d omain- ontaining 3 (CCDC3) as new TAp63 target. but not ΔNp63, or p73, upregulates CCDC3 expression by directly binding its enhancer region. The is markedly reduced in TAp63-null mouse embryonic fibroblasts and brown adipose tissues tumor necrosis factor alpha that reduces p63 transcriptional activity, induced metformin, an anti-diabetic drug activates p63. Also, positively...
Genetic predisposition is the primary risk factor for familial breast cancer. For majority of cancer, however, genetic predispositions remain unknown. All newly identified occur rarely in disease population, and unknown are estimated to reach up total thousands. Family unit basic structure genetics. Because it an autosomal dominant disease, individuals with a history cancer must carry same across generations. Therefore, focusing on cases lineages rather than pooled expected provide high...
Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic for cancer can be ethnic-specific. However, current knowledge disease is predominantly derived from Western populations. Using this existing information as sole reference to judge in non-Western populations not adequate and potentially lead misdiagnosis. Efforts are required collect The Egyptian population has high variations reflecting its divergent ethnic origins, incident rate Egypt...
Ku80 is a subunit of the Ku heterodimer that binds to DNA double-strand break ends as part non-homologous end joining (NHEJ) pathway. also involved in homologous recombination (HR) via its interaction with BRCA1. encoded by XRCC5 gene contains variable number tandem repeat (VNTR) insertion promoter region. Different VNTR genotypes can alter expression and affect production, thereby affecting NHEJ HR pathways. polymorphism associated multiple types sporadic cancer. In this study, we...
Normal genome variation and pathogenic alteration frequently affect small regions in the genome. Identifying those genomic changes remains a technical challenge. We report here development of DGS (Ditag Genome Scanning) technique for high-resolution analysis structure. The basic features include (1) use high-frequent restriction enzymes to fractionate into fragments; (2) collection two tags from ends given DNA fragment form ditag represent fragment; (3) application 454 sequencing system...
Allograft rejection is a leading cause for the failure of allotransplantation. CD4 + T cells play critical roles in this process. The identification genes that alternatively expressed during allograft will provide information studying mechanism rejection, finding specific gene markers monitoring, predicting and opening new ways to regulate prevent rejection. Here, we established isograft transplantation models by adoptively transferring wild-type BALB/c mouse into severe combined...
BRCA1 plays an essential role in maintaining genome stability. Inherited germline mutation (BRCA1+) is a determined genetic predisposition leading to high risk of breast cancer. While BRCA1+ induces cancer by causing instability, most the knowledge known about somatic instability cells but not instability.Using exome-sequencing method, we analyzed genomes blood typical family with exon 13-duplicated founder mutation, including six cancer-affected and two unaffected members.We identified 23...
An adequate supply of nucleotides is essential for accurate DNA replication, and inappropriate deoxyribonucleotide triphosphate (dNTP) concentrations can lead to replication stress, a common source damage, genomic instability tumourigenesis. Here, we provide evidence that Erk5 necessary correct nucleotide during erythroid development. Mice with knockout in the haematopoietic lineage showed impaired development bone marrow, accompanied by altered dNTP levels increased mutagenesis progenitors...
Abstract Core promoter controls the initiation of transcription. sequence change can disrupt transcriptional regulation, lead to impairment gene expression and ultimately diseases. Therefore, comprehensive characterization core promoters is essential understand normal abnormal in biomedical studies. Here we report development EVDC ( E xome-based V ariant D etection C ore promoters) method for genome-scale analysis core-promoter variation. This based on fact that exome sequences contain not...
Chronic lymphocytic leukemia (CLL) is the most common adult in western population. Although genetic factors are considered to contribute CLL etiology, at present genomic aberrations identified limited compared with those other types of leukemia, which raises question degree influence on CLL. We performed a high-resolution genome scanning study address this issue.Using restriction paired-end-based Ditag Genome Scanning technique, we analyzed three primary samples kilobase resolution, and...