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Full-Text Articles in Disease Modeling
Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton
Functional Evaluation Of A Novel Rpl30 Mutation And Its Role In Diamond Blackfan Anemia (Dba), Alexandra Prosser, Alexandria Cockrell, Danny Miller, Chris Seidel, Tamara Potapova, John M. Perry, Midhat Farooqi, Erin M. Guest, Jennifer Gerton
Research Days
Background: Bone marrow failure is life-threatening and requires prompt, intensive treatment, which is dependent upon identification of genetic drivers. Although there has been investigation into associated genetic mutations, especially in Diamond Blackfan anemia (DBA), the relationship between genotype and phenotype remains unclear.DBA has been identified as a ribosomopathy, also known as a disease associated with defects in ribosome biogenesis. We identified a novel heterozygous variant (c.167+769C >T) in the noncoding region of RPL30 in a patient with clinical diagnosis of DBA. Clinical RNA sequencing (RNA-seq) suggests the variant generates a novel splice acceptor site resulting in truncated RPL30 transcripts. Elucidation …
Same-Day Discharge And Quality Of Life For Primary Laparoscopic Rectopexy For Rectal Prolapse In Children- A 10-Year Experience, Obiyo O. Osuchukwu
Same-Day Discharge And Quality Of Life For Primary Laparoscopic Rectopexy For Rectal Prolapse In Children- A 10-Year Experience, Obiyo O. Osuchukwu
Research Days
No abstract provided.
2018 Guide Summer Research - Breast Cancer, Qur'annah Jones, Delawnia Comer-Hagans
2018 Guide Summer Research - Breast Cancer, Qur'annah Jones, Delawnia Comer-Hagans
Research Days
This research poster details the relationship between cancer treatments and alternative approaches, such as mindfulness. The purpose of this study was to determine the methodology used by doctors to treat breast cancer and their willingness to try a holistic approach. This study was conducted on site at the UIC Cancer Center as well as remotely within hospitals around the Chicagoland area. We determined that mindfulness is in fact a worthwhile asset to breast cancer patients and that the field of oncology could support further research.