A5038763479- Epigenetics and DNA Methylation
- MicroRNA in disease regulation
- BRCA gene mutations in cancer
- Genetic Syndromes and Imprinting
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Acute Lymphoblastic Leukemia research
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- Lung Cancer Treatments and Mutations
- Genomics and Chromatin Dynamics
- Nutrition, Genetics, and Disease
- Circular RNAs in diseases
- Adipose Tissue and Metabolism
- Chromatin Remodeling and Cancer
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Bacterial Genetics and Biotechnology
- Ovarian cancer diagnosis and treatment
- Dietary Effects on Health
- Muscle Physiology and Disorders
City of Hope
1983-2024
Beckman Research Institute
2008-2024
Institute of Molecular Medicine
2023
City Of Hope National Medical Center
1997-2014
St. Joseph Hospital
2012
Prevention Institute
2012
University of California, San Francisco
2012
University of North Carolina at Chapel Hill
2011
University of California, Los Angeles
1989
Hope Research Institute
1982-1983
To determine the prevalence and type of BRCA1 BRCA2 (BRCA) mutations among Hispanics in Southwestern United States their potential impact on genetic cancer risk assessment (GCRA).Hispanics (n = 746) with a personal or family history breast and/or ovarian were enrolled an institutional review board-approved registry received GCRA BRCA testing within consortium 14 clinics. Population-based Hispanic cases 492) Northern California Breast Cancer Family Registry, negative by sequencing for...
MicroRNAs regulate diverse cellular processes and play an integral role in cancer pathogenesis. Genomic variation within miRNA target sites may therefore be important sources for genetic differences risk. To investigate this possibility, we mapped HapMap single nucleotide polymorphisms (SNP) to putative recognition genes dysregulated estrogen receptor-stratified breast tumors used local linkage disequilibrium patterns identify high-ranking SNPs the Cancer Genetic Markers of Susceptibility...
Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component cancer Colombia has been, for most part, studied on cases from Bogota region. Five different founder mutations were two studies patients It is important that frequency established among unselected other regions order estimate burden this and plan services. aim study was establish frequencies BRCA genes family history age, Medellin, Colombia.We enrolled 280 women with large...
The actin (ACT) gene from the budding yeast Kluyveromyces lactis was cloned, and nucleotide sequence determined. had a single intron 778 nucleotides in length which possessed highly conserved splicing signals found Saccharomyces cerevisiae introns. We demonstrated of heterologous ACT transcripts both K. S. cerevisiae.
Abstract Background Gene expression measurements from breast cancer (BrCa) tumors are established clinical predictive tools to identify tumor subtypes, patients showing poor/good prognosis, and likely have disease recurrence. However, diverse datasets in conjunction with diagnostic arrays show little overlap the sets of genes identified. One approach a set consistently dysregulated candidate these is employ meta-analysis multiple independent microarray datasets. This allows one compare data...
Genomic imprints—parental allele-specific DNA methylation marks at the differentially methylated regions (DMRs) of imprinted genes—are erased and reestablished in germ cells according to individual's sex. Imprint establishment paternally line DMRs occurs fetal male cells. In prospermatogonia, two unmethylated alleles exhibit different rates de novo H19/Igf2 imprinting control region (ICR) depending on parental origin. We investigated nature this epigenetic memory using bisulfite sequencing...
Genomic imprinting is an epigenetic inheritance system characterized by parental allele-specific gene expression. Allele-specific DNA methylation and chromatin composition are two modification systems that control imprinted To get a general assessment of histone lysine acetylation at genes we measured wide range residues, H3K4, H3K18, H3K27, H3K36, H3K79, H3K64, H4K5, H4K8, H4K12, H2AK5, H2BK12, H2BK16 H2BK46 11 differentially methylated regions (DMRs) in reciprocal mouse crosses using...
We have tested a simple procedure, disease association by locus stratification, for identifying breast cancer patients with pathogenetic allelic variants at several candidate loci. The strategy was based on the assumption of epistatic interactions candidates. analyzed 66 independent cases from sib pairs affected that had previously been collected during an investigation pathogenetic-allele-sharing HRAS1 mini-satellite locus. An exon 24 polymorphism ATM, substituting arginine proline...
Genetic background has a profound effect on inflammatory bowel disease. The Gpx1 and Gpx2 double knockout (GPX1/2-DKO) mice mixed C57BL/6 (B6) 129S1/SvimJ (129) exhibit spontaneous ileocolitis. DKO B6 have mild We characterized the 129 to identify genetic locus affecting disease severity.We backcrossed B6;129 analyzed for ileocolitis penetrance severity at N5, N7, N10. By correlating with single-nucleotide polymorphism (SNP) markers, we identified colitis locus.As early as 9 days of age, N5...
Imprinted gene expression corresponds to parental allele-specific DNA CpG methylation and chromatin composition. Histone tail covalent modifications have been extensively studied, but it is not known whether in the histone globular domains can also discriminate between alleles. Using multiplex immunoprecipitation-single nucleotide primer extension (ChIP-SNuPE) assays, we measured enrichment of H3K79 H4K91 acetylation along H19/Igf2 imprinted domain. Whereas H3K79me1, H3K79me2, H4K91ac...
Genetic susceptibility to therapy-related leukemia after Hodgkin lymphoma or non-Hodgkin lymphoma: role of drug metabolism, apoptosis and DNA repair
Previously, a candidate gene linkage approach on brother pairs affected with prostate cancer identified locus of susceptibility at D3S1234 within the fragile histidine triad (FHIT), tumor suppressor that induces apoptosis. Subsequent association tests 16 SNPs spanning approximately 381 kb surrounding in Americans European descent revealed significant evidence for single SNP intron 5 FHIT. In current study, re-sequencing and genotyping 28.5 region this further delineated risk to 15 region....
During B cell development in bone marrow, large precursor cells (large Pre-B cells) proliferate rapidly, exit the cycle, and differentiate into non-proliferative (quiescent) small cells. Dysregulation of this process may result failure to produce functional pose a risk leukemic transformation. Here, we report that AT rich interacting domain 5B ( ARID5B ), acute lymphoblastic leukemia (B-ALL) gene, regulates at stage. In both mice humans, observed significant upregulation expression initiates...
We describe three statistical results that we have found to be useful in case-control genetic association testing. All involve combining the discovery of novel variants, usually by sequencing, with genotyping methods recognize previously discovered variants. first consider expanding list known variants concentrating variant-discovery cases. Although naive inclusion cases-only sequencing data would create a bias, show some may retained, even if controls are not sequenced. Furthermore, for...
5-methyl-C (5mC) and 5-hydroxymethyl-C (5hmC) are epigenetic marks with well known putative roles in gene regulation, respectively. These two DNA covalent modifications cannot be distinguished by bisulfite sequencing or restriction digestion, the standard methods of 5mC detection. The methylated CpG island recovery assay (MIRA), however, specifically detects but not 5hmC. We further developed MIRA for analysis allele-specific methylation at differentially regions (DMRs) imprinted genes....
Background: Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) selectively kills tumor cells in cancer patients. However, patients often develop TRAIL resistance; thus, agents that can sensitize to therapy would be beneficial clinically. Methods: Immunoblotting, flow cytometry, confocal microscopy, qPCR and caspase 8 activity assays were used investigate whether glucosamine (GlcN) thereby enhancing apoptosis potentially improving clinical response. Results: GlcN sensitized...
Utilizing RNA sequence (RNA-Seq) splice junction data from a cohort of 1841 B-cell acute lymphoblastic leukemia (B-ALL) patients we define transcriptionally distinct isoforms ARID5B, risk-associated gene identified in genome wide association studies (GWAS), which associate with disease survival. Short (S) and long (L) ARID5B transcripts, differ an encoded BAH-like chromatin interaction domain, show remarkable correlation to the isoform splicing pattern. Testing proximal promoter S & L...
Understanding the effects of adolescent binge drinking that persist into adulthood is a crucial public health issue. Adolescent intermittent ethanol exposure (AIE) an animal model can be used to investigate these in rodents. In this work, we application particular image analysis technique, tensor-based morphometry, for detecting anatomical differences between AIE and control rats using Diffusion Tensor Imaging (DTI). Deformation field popular method volumetric changes analyzing Jacobian...
1514 Background: Little is known about prevalence or ancestral origins of BRCA1and BRCA2 (BRCA) mutations among high-risk Hispanics, the fastest growing relatively underserved population in U.S. Methods: Individuals self-reported Hispanic origin with a personal family history breast and/or ovarian cancer were enrolled an IRB-approved registry and underwent genetic counseling BRCA testing within consortium 14 high risk clinics across Multigenerational pedigrees data on grandparental...