A5083345064- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Advanced biosensing and bioanalysis techniques
- Genomics and Chromatin Dynamics
- RNA Interference and Gene Delivery
- Neurogenetic and Muscular Disorders Research
- Clinical Laboratory Practices and Quality Control
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Statistical Methods in Clinical Trials
- Mycobacterium research and diagnosis
- DNA and Nucleic Acid Chemistry
- Immunodeficiency and Autoimmune Disorders
- Chromosomal and Genetic Variations
- Pharmaceutical studies and practices
- Lung Cancer Research Studies
- Molecular Biology Techniques and Applications
- Biosimilars and Bioanalytical Methods
- Field-Flow Fractionation Techniques
- Cancer-related Molecular Pathways
- Congenital Ear and Nasal Anomalies
- Gene expression and cancer classification
- Microtubule and mitosis dynamics
University of Kansas Medical Center
2023
University of Alabama at Birmingham
2023
University of Iowa
2023
Hebrew University of Jerusalem
2007-2017
Abstract Aneuploidy is a hallmark of cancer and underlies genetic disorders characterized by severe developmental defects, yet the molecular mechanisms explaining its effects on cellular physiology remain elusive. Here we show, using series human cells with defined aneuploid karyotypes, that gain single chromosome increases genomic instability. Next-generation sequencing SNP-array analysis reveal accumulation chromosomal rearrangements in aneuploids, break point junction patterns suggestive...
Antisense oligonucleotide (ASO)-based drugs for splicing modulation were recently approved various genetic diseases with unmet need. Here we aimed to develop an ASO-based therapy Cystic Fibrosis (CF) patients carrying the 3849+10 kb C-to-T mutation in CFTR gene.We have screened, FRT cells expressing mutation, ~30 2'-O-Methyl-modified phosphorothioate ASOs, targeted prevent recognition and inclusion of a cryptic exon generated due mutation. The effect highly potent ASO candidates on pattern,...
Recent advances in the therapeutic potential of RNA-related treatments, specifically for antisense oligonucleotide (ASO)-based drugs, have led to increased numbers ASO regulatory approvals. In this study, we focus on SPL84, an inhaled ASO-based drug, developed treatment pulmonary disease cystic fibrosis (CF). Pulmonary drug delivery is challenging, due a variety biological, physical, chemical, and structural barriers, especially when targeting cell nucleus. The distribution SPL84 throughout...
Antisense oligonucleotide- based drugs for splicing modulation were recently approved various genetic diseases with unmet need. Here we aimed to generate skipping over exon 23 of the CFTR transcript, eliminate W1282X nonsense mutation and avoid RNA degradation induced by mediated mRNA decay mechanism, allowing production partially active proteins lacking 23.∼80 ASOs screened in 16HBEge cells. ASO candidates showing significant assessed their allele selectivity increase protein maturation...
Abstract The last years have shown enormous advancement in the therapeutic potential of RNA-related treatments, specifically for antisense oligonucleotide (ASO)-based drugs, leading to increased numbers ASO regulatory approvals. In this study we focus on SPL84, an inhaled ASO-based drug, developed treatment pulmonary disease, Cystic Fibrosis (CF). Pulmonary drug delivery is challenging, due a variety biological, physical, chemical, and structural barriers, especially when aiming target cell...
Perturbed DNA replication in early stages of cancer development induces chromosomal instability preferentially at fragile sites. However, the molecular basis for this is unknown. Using combing, we studied dynamics along two common sites on chromosome 16, FRA16C and FRA16D. We found that under normal growth conditions, region shows stress-like dynamics. Replication forks site progress significantly slower than entire genome, frequently stall AT-rich sequences. Interestingly, these most...
Abstract Antisense oligonucleotide (ASO)-based drugs for splicing modulation were recently been approved various genetic diseases with unmet need. Here we aimed to develop an ASO-based therapy Cystic Fibrosis (CF) patients carrying the 3849+10kb C-to-T mutation in CFTR gene. We have screened, FRT cells expressing this mutation, ~30 ASOs chemically modified 2′-O-Methyl on a phosphrothioate backbone, targeted prevent recognition and inclusion of cryptic exon generated due mutation. The...
Extended abstract of a paper presented at Microscopy and Microanalysis 2010 in Portland, Oregon, USA, August 1 – 5, 2010.