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Genetic Correlates In Patients With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Treated With Hyper-Cvad/Hyper-Cmad Plus Dasatinib Or Hyper-Cvad Plus Ponatinib, Yuya Sasaki MD, PhD, Hagop M. Kantarjian MD, Nicholas J. Short MD, Farhad Ravandi MD, Marina Konopleva MD, PhD, Guillermo Garcia-Manero MD, P Andrew Futreal PhD, Feng Wang, Koichi Takahashi MD, PhD, Elias Jabbour MD 2021 University of Texas MD Anderson Cancer Center

Genetic Correlates In Patients With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Treated With Hyper-Cvad/Hyper-Cmad Plus Dasatinib Or Hyper-Cvad Plus Ponatinib, Yuya Sasaki Md, Phd, Hagop M. Kantarjian Md, Nicholas J. Short Md, Farhad Ravandi Md, Marina Konopleva Md, Phd, Guillermo Garcia-Manero Md, P Andrew Futreal Phd, Feng Wang, Koichi Takahashi Md, Phd, Elias Jabbour Md

2021 Education Week Posters

Department of Leukemia Research

Department of Leukemia

Department of Genomic Medicine


Ciliary Extracellular Vesicles Are Distinct From The Cytosolic Extracellular Vesicles, Ashraf M. Mohieldin, Rajasekharreddy Pala, Richard Beuttler, James J. Moresco, John R. Yates III, Surya M. Nauli 2021 Chapman University

Ciliary Extracellular Vesicles Are Distinct From The Cytosolic Extracellular Vesicles, Ashraf M. Mohieldin, Rajasekharreddy Pala, Richard Beuttler, James J. Moresco, John R. Yates Iii, Surya M. Nauli

Pharmacy Faculty Articles and Research

Extracellular vesicles (EVs) are cell‐derived membrane vesicles that are released into the extracellular space. EVs encapsulate key proteins and mediate intercellular signalling pathways. Recently, primary cilia have been shown to release EVs under fluid‐shear flow, but many proteins encapsulated in these vesicles have never been identified. Primary cilia are ubiquitous mechanosensory organelles that protrude from the apical surface of almost all human cells. Primary cilia also serve as compartments for signalling pathways, and their defects have been associated with a wide range of human genetic diseases called ciliopathies. To better understand the mechanism of ciliopathies, it is imperative ...


Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge 2021 University of Texas at Tyler

Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge

DNP Final Reports

Background

Approximately 100,000 people in the United States are affected by Sickle Cell Disease (SCD). Sickle Cell Disease represents the second highest readmitting diagnosis at Houston Methodist Hospital. The purpose of this study is to determine the impact of implementing care coordination interventions to reduce hospital readmissions of patients with SCD.

PICOT

In adult patients with SCD in the acute care hospital setting, how does care coordination intervention compared to no care coordination intervention affect the readmission rate for patients with SCD over a 3 – 6-month period?

Body of Evidence

Eleven studies were critical appraised and included in the ...


Hospital-Acquired Venous Thromboembolism Or Bleeding Following Total Joint Arthroplasty: A Systematic Review And Meta-Analysis For The Association Of The Gene Polymorphism., Michael Debeau 2021 Wayne State University

Hospital-Acquired Venous Thromboembolism Or Bleeding Following Total Joint Arthroplasty: A Systematic Review And Meta-Analysis For The Association Of The Gene Polymorphism., Michael Debeau

Medical Student Research Symposium

This review seeks to understand the current existing literature on genetic polymorphisms to VTE following orthopedic surgery. Using PRISMA guidelines, 234 studies were retrieved from PubMed and Cochrane. The eligibility assessment yielded 16 studies including a systematic review. A STREGA and STROBE quality assessment found these studies to have high methodological quality. A significant association was found between the PAI-1 4G/4G genotype and resistance to anticoagulation therapy (OR = 2.692; 95% CI = 1.302 - 4.702). Moreover, the MTHFR C677T and A1298C polymorphisms significantly increased the incidence of VTE in patients that are compound heterozygotes (OR = 2.89; 95 ...


Dahili Tıp Bilimleri Tanı Ve Tedavi, Hakan Kaya, Hüseyin Kafadar, Rabia Tutuncu Toker, Ali Topak, Kemal Dinç, Bahar Yılmaz Çankaya, Ferit Durankuş, Fatma Kurt Çolak, Attila Önmez, Mehmet Emin Parlak, Selma Eroğlu, Serçin Taşar 2021 Adiyaman University

Dahili Tıp Bilimleri Tanı Ve Tedavi, Hakan Kaya, Hüseyin Kafadar, Rabia Tutuncu Toker, Ali Topak, Kemal Dinç, Bahar Yılmaz Çankaya, Ferit Durankuş, Fatma Kurt Çolak, Attila Önmez, Mehmet Emin Parlak, Selma Eroğlu, Serçin Taşar

Health Sciences

Bu kitapta konjenital ayna hareketi bozukluğu, artrografi öncesi intraartiküler enjeksiyonu, otizm spektrum bozuklukları, genetik danışma, hipoglisemi ve diyabetin akut komplikasyonları, çocuklarda akut otitis media, gerçek nörojenik torasik çıkış sendromu, çocukluk çağı tiroid hastalıkları ele alınmıştır.


A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa Mullins, Abigail Russell, Chad Johnston 2020 LewisGale Hospital Montgomery

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa Mullins, Abigail Russell, Chad Johnston

HCA Healthcare Journal of Medicine

Simpson-Golabi-Behmel syndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmel syndrome have been described, and this case highlights that there may be an association between mutated GPC3 carrier status and other cancers. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmel ...


Pathway‐Extended Gene Expression Signatures Integrate Novel Biomarkers That Improve Predictions Of Patient Responses To Kinase Inhibitors, Ashis Bagchee‐Clark, Eliseos J. Mucaki, Tyson Whitehead, Peter Rogan 2020 Western University

Pathway‐Extended Gene Expression Signatures Integrate Novel Biomarkers That Improve Predictions Of Patient Responses To Kinase Inhibitors, Ashis Bagchee‐Clark, Eliseos J. Mucaki, Tyson Whitehead, Peter Rogan

Biochemistry Publications

Cancer chemotherapy responses have been related to multiple pharmacogenetic biomarkers, often for the same drug. This study utilizes machine learning to derive multi‐gene expression signatures that predict individual patient responses to specific tyrosine kinase inhibitors, including erlotinib, gefitinib, sorafenib, sunitinib, lapatinib and imatinib. Support vector machine (SVM) learning was used to train mathematical models that distinguished sensitivity from resistance to these drugs using a novel systems biology‐based approach. This began with expression of genes previously implicated in specific drug responses, then expanded to evaluate genes whose products were related through biochemical pathways and interactions. Optimal pathway‐extended SVMs ...


Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor 2020 Liberty University

Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor

Senior Honors Theses

Color blindness affects nearly 10% of the entire population, with multiple types of color blindness from various genetic mutations. In the following sections, the nature of light and how the human eye perceives light will be discussed. Afterward, the major forms of color blindness and their genetic causes will be considered. Once these genetic causes have been established, the current method for diagnosing color blindness will be investigated, followed by a discussion of the current treatments available to those with color blindness. Finally, a brief discussion will address possible future work for color blindness with the hope of finding better ...


Overcoming Barriers For Sirna Therapeutics: From Bench To Bedside, Muhammad Imran Sajid, Muhammad Moazzam, Shun Kato, Kayley Yeseom Cho, Rakesh Kumar Tiwari 2020 Chapman University

Overcoming Barriers For Sirna Therapeutics: From Bench To Bedside, Muhammad Imran Sajid, Muhammad Moazzam, Shun Kato, Kayley Yeseom Cho, Rakesh Kumar Tiwari

Pharmacy Faculty Articles and Research

The RNA interference (RNAi) pathway possesses immense potential in silencing any gene in human cells. Small interfering RNA (siRNA) can efficiently trigger RNAi silencing of specific genes. FDA Approval of siRNA therapeutics in recent years garnered a new hope in siRNA therapeutics. However, their therapeutic use is limited by several challenges. siRNAs, being negatively charged, are membrane-impermeable and highly unstable in the systemic circulation. In this review, we have comprehensively discussed the extracellular barriers, including enzymatic degradation of siRNAs by serum endonucleases and RNAases, rapid renal clearance, membrane impermeability, and activation of the immune system. Besides, we have thoroughly described ...


Effects Of Germline And Somatic Events In Candidate Brca-Like Genes On Breast-Tumor Signatures, Weston R. Bodily, Brian H. Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R. Piccolo 2020 Brigham Young University

Effects Of Germline And Somatic Events In Candidate Brca-Like Genes On Breast-Tumor Signatures, Weston R. Bodily, Brian H. Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R. Piccolo

Pharmacy Faculty Articles and Research

Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone. HR deficiency of breast tumors is important because it is associated with better responses to platinum salt therapies and PARP inhibitors. Among other consequences of HR deficiency are characteristic somatic-mutation signatures and gene-expression patterns. The term “BRCA-like” (or “BRCAness”) describes tumors that harbor an HR defect but have no detectable germline mutation in BRCA1 or BRCA2. A better understanding of the genes and molecular events associated with tumors being BRCA-like ...


Genomic Instability And The Oncohistone H3k27m Drive Gliomagenesis In A Murine Model, Lee J. Pribyl 2020 University of Tennessee Health Science Center

Genomic Instability And The Oncohistone H3k27m Drive Gliomagenesis In A Murine Model, Lee J. Pribyl

Theses and Dissertations (ETD)

Maintaining genome stability is crucial for human health and it is of particular importance in neural cells during early brain development. Genome maintenance occurs at two broad stages; surveillance during DNA replication and DNA damage repair in differentiating and mature cells. Neural cells are particularly sensitive to DNA strand breaks and defective DNA damage responses can result in detrimental effects on the nervous system, including cancer. Multiple DNA repair pathways play critical roles in preventing DNA damage accumulation in stem and neural progenitor cells. The mechanisms that protect progenitor genomes also suppress DNA mutations that can result in cancer. A ...


A Survey Of Transcripts Generated By Spinal Muscular Atrophy Genes, Natalia N. Singh, Eric W. Ottesen, Ravindra N. Singh 2020 Iowa State University

A Survey Of Transcripts Generated By Spinal Muscular Atrophy Genes, Natalia N. Singh, Eric W. Ottesen, Ravindra N. Singh

Biomedical Sciences Publications

Human Survival Motor Neuron (SMN) genes code for SMN, an essential multifunctional protein. Complete loss of SMN is embryonic lethal, while low levels of SMN lead to spinal muscular atrophy (SMA), a major genetic disease of children and infants. Reduced levels of SMN are associated with the abnormal development of heart, lung, muscle, gastro-intestinal system and testis. The SMN loci have been shown to generate a vast repertoire of transcripts, including linear, back- and trans-spliced RNAs as well as antisense long noncoding RNAs. However, functions of the majority of these transcripts remain unknown. Here we review the nature of RNAs ...


Dna Transfer In The Soil Bacterium Rhodococcus, Jaimin Maheshbhai Kapadia 2020 East Tennessee State University

Dna Transfer In The Soil Bacterium Rhodococcus, Jaimin Maheshbhai Kapadia

Undergraduate Honors Theses

Gene transfer plays an important role in bacterial evolution. Especially in an under explored species like Rhodococcus, a type of bacteria found in the soil. Rhodococcus has several applications in the pharmaceutical industry and in the production of antibiotics. Rhodococcus possess several unique sets of properties which makes it beneficial to have a reliable method of producing mutants of Rhodococcus. The goal of the experiment was to find an efficient way of forming Rhodococcus colonies with kanamycin resistant genes. The project began from an unexpected observation from an earlier experiment with Rhodococcus strain MTM3W5.2. where I attempted to transform ...


Using Active Learning To Build A Foundation For Bioinformatics Training., Stacey E. Wahl Ph.D., Amy L. Olex MS 2020 Virginia Commonwealth University

Using Active Learning To Build A Foundation For Bioinformatics Training., Stacey E. Wahl Ph.D., Amy L. Olex Ms

Transforming Libraries for Graduate Students

As Health Sciences Libraries evolve, the support they offer graduate students has evolved to incorporate many aspects of the research life cycle. At Tompkins-McCaw Library for the Health Sciences, we have partnered with the Wright Center for Clinical and Translational Research to offer training workshops for graduate students who are interested in using bioinformatics to plan, analyze, or execute scientific experiments. We offer two series: 1) an 8-week, 1-hour per week seminar series providing a general overview of available techniques and 2) a week-long intensive, two hours per session, series on utilizing free databases from the National Center for Biotechnology ...


Pyrosequencing Analysis Of Irs1 Methylation Levels In Schizophrenia With Tardive Dyskinesia, Yanli Li, Kesheng Wang, Ping Zhang, Junchao Huang, Ying Liu, Zhiren Wang, Yongke Lu, Shuping Tan, Fude Yang, Yunlong Tan 2020 Marshall University

Pyrosequencing Analysis Of Irs1 Methylation Levels In Schizophrenia With Tardive Dyskinesia, Yanli Li, Kesheng Wang, Ping Zhang, Junchao Huang, Ying Liu, Zhiren Wang, Yongke Lu, Shuping Tan, Fude Yang, Yunlong Tan

Pharmacology, Physiology and Toxicology

Tardive dyskinesia (TD) is a serious side effect of certain antipsychotic medications that are used to treat schizophrenia (SCZ) and other mental illnesses. The methylation status of the insulin receptor substrate 1 (IRS1) gene is reportedly associated with SCZ; however, no study, to the best of the authors' knowledge, has focused on the quantitative DNA methylation levels of the IRS1 gene using pyrosequencing in SCZ with or without TD. The present study aimed to quantify DNA methylation levels of 4 CpG sites in the IRS1 gene using a Chinese sample including SCZ patients with TD and without TD (NTD) and ...


The Project Talent Twin And Sibling Study: Zygosity And New Data Collection, Carol A. Prescott, Ellen E. Walters, Thalida Em Arpawong, Catalina Zavala, Tara L. Gruenewald, Margaret Gatz 2020 University of Southern California

The Project Talent Twin And Sibling Study: Zygosity And New Data Collection, Carol A. Prescott, Ellen E. Walters, Thalida Em Arpawong, Catalina Zavala, Tara L. Gruenewald, Margaret Gatz

Psychology Faculty Articles and Research

The Project Talent Twin and Sibling (PTTS) study includes 4481 multiples and their 522 nontwin siblings from 2233 families. The sample was drawn from Project Talent, a U.S. national longitudinal study of 377,000 individuals born 1942–1946, first assessed in 1960 and representative of U.S. students in secondary school (Grades 9–12). In addition to the twins and triplets, the 1960 dataset includes 84,000 siblings from 40,000 other families. This design is both genetically informative and unique in facilitating separation of the ‘common’ environment into three sources of variation: shared by all siblings within a ...


The First Orally Deliverable Small Molecule For The Treatment Of Spinal Muscular Atrophy, Ravindra N. Singh, Eric W. Ottesen, Natalia N. Singh 2020 Iowa State University

The First Orally Deliverable Small Molecule For The Treatment Of Spinal Muscular Atrophy, Ravindra N. Singh, Eric W. Ottesen, Natalia N. Singh

Biomedical Sciences Publications

Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene. Its nearly identical copy, SMN2, fails to compensate for the loss of SMN1 due to predominant skipping of exon 7. Correction of SMN2 exon 7 splicing by an antisense oligonucleotide (ASO), nusinersen (Spinraza™), that targets the intronic splicing silencer N1 (ISS-N1) became the first approved therapy for SMA. Restoration of SMN levels using gene therapy was the next. Very recently, an orally deliverable small ...


A "Choose-Your-Own" Classroom-Based Activity That Promotes Scientific Inquiry About Rna Interference, Jeremy L. Hsu 2019 Chapman University

A "Choose-Your-Own" Classroom-Based Activity That Promotes Scientific Inquiry About Rna Interference, Jeremy L. Hsu

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

RNA interference (RNAi), the process that results in the degradation of a target gene’s mRNA, is a fundamental part of eukaryotic gene regulation and is also an important molecular technique that allows for experimental manipulation of gene expression without altering DNA sequences. Despite the importance of RNAi, there have been relatively few lecture-based activities designed to teach about the consequences of this process and counter common misconceptions. I present here an inquiry-based activity that is centered around a “choose your own experiment” design where students generate hypotheses and critically evaluate their ideas by choosing several simulated experiments. The activity ...


#8 - Analysis Of Temporal Gene Expression Of Mycobacteriophage Xianyue, Samantha E. Kates 2019 University of North Georgia

#8 - Analysis Of Temporal Gene Expression Of Mycobacteriophage Xianyue, Samantha E. Kates

Georgia Undergraduate Research Conference (GURC)

Analysis of Temporal Gene Expression of Mycobacteriophage XianYue

Samantha Kates

Abstract

Antibiotic resistance has become a prevalent issue in the 21stcentury. The over-prescription and frequent use of antibiotics have allowed host bacteria to escape the effects of antibiotic therapy. An alternative treatment for bacterial infection is bacteriophage (phage) therapy. Phage are viruses that infect and hijack the genetic machinery of its bacterial host which results in host cell death. Mycobacteriophage XianYue was isolated from a soil sample on the campus of the University of North Georgia. Using its bacterial host Mycobacterium smegmatis, a non-infectious mycobacterium, XianYue’s gene ...


Fine Mapping And Identification Of Serum Urate Loci In American Indians: The Strong Heart Family Study, Geetha Chittoor, Karin Haack, Poojitha Balakrishnan, Christopher Bizon, Sandra Laston, Lyle G. Best, Jean W. MacCluer, Kari E. North, Jason G. Umans 2019 The University of Texas Rio Grande Valley

Fine Mapping And Identification Of Serum Urate Loci In American Indians: The Strong Heart Family Study, Geetha Chittoor, Karin Haack, Poojitha Balakrishnan, Christopher Bizon, Sandra Laston, Lyle G. Best, Jean W. Maccluer, Kari E. North, Jason G. Umans

School of Medicine Publications and Presentations

While studies have reported genetic loci affecting serum urate (SU) concentrations, few studies have been conducted in minority populations. Our objective for this study was to identify genetic loci regulating SU in a multigenerational family-based cohort of American Indians, the Strong Heart Family Study (SHFS). We genotyped 162,718 single nucleotide polymorphisms (SNPs) in 2000 SHFS participants using an Illumina MetaboChip array. A genome-wide association analysis of SU was conducted using measured genotype analysis approach accounting for kinships in SOLAR, and meta-analysis in METAL. Our results showed strong association of SU with rs4481233, rs9998811, rs7696092 and rs13145758 (minor allele frequency ...


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