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Regulation Of Polycystin-1 Function By Calmodulin Binding, Nicholas Doerr, Yidi Wang, Kevin R. Kipp, Guangyi Liu, Jesse J. Benza, Vladimir Pletnev, Tengis S. Pavlov, Alexander Staruschenko, Ashraf M. Mohieldin, Maki Takahashi, Surya M. Nauli, Thomas Weimbs 2016 University of California, Santa Barbara

Regulation Of Polycystin-1 Function By Calmodulin Binding, Nicholas Doerr, Yidi Wang, Kevin R. Kipp, Guangyi Liu, Jesse J. Benza, Vladimir Pletnev, Tengis S. Pavlov, Alexander Staruschenko, Ashraf M. Mohieldin, Maki Takahashi, Surya M. Nauli, Thomas Weimbs

Pharmacy Faculty Articles and Research

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disease that leads to progressive renal cyst growth and loss of renal function, and is caused by mutations in the genes encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. The PC1/PC2 complex localizes to primary cilia and can act as a flow-dependent calcium channel in addition to numerous other signaling functions. The exact functions of the polycystins, their regulation and the purpose of the PC1/PC2 channel are still poorly understood. PC1 is an integral membrane protein with a large extracytoplasmic N-terminal domain and a short, ~200 amino acid C-terminal ...


Analyzing Mutations Of Spt7 Protein That Disrupt Interaction With Sf3b Subunits, Arryn T. Harris, Peyton J. Spreacker, Rachel Stegeman, Vikki M. Weake, Edwin C. Acosta 2016 Purdue University

Analyzing Mutations Of Spt7 Protein That Disrupt Interaction With Sf3b Subunits, Arryn T. Harris, Peyton J. Spreacker, Rachel Stegeman, Vikki M. Weake, Edwin C. Acosta

The Summer Undergraduate Research Fellowship (SURF) Symposium

Proper transcription, the process of converting DNA to RNA, is crucial for the health and viability of an organism. This process is regulated by many proteins, such as co-transcriptional activators; one being the protein complex known as Spt-Ada-Gcn5-acetyltransferase, or SAGA. While much is known about the roles of SAGA in cell processes, how SAGA’s subunits promote functionality is still unknown. The focus of this study is to analyze the purpose of SAGA’s SF3B subunits. These subunits are also found in the spliceosome, the compound responsible for generating mature RNA. SAGA has no known functions relating to this process ...


Activation Of Target Gene Expression In Neurons By The C. Elegans Rfx Transcription Factor, Daf-19, Katherine P. Mueller 2016 Lawrence University

Activation Of Target Gene Expression In Neurons By The C. Elegans Rfx Transcription Factor, Daf-19, Katherine P. Mueller

Lawrence University Honors Projects

DAF-19, the only RFX transcription factor found in C. elegans, is required for the formation of neuronal sensory cilia. Four isoforms of the DAF-19 protein have been reported, and the m86 nonsense (null) mutation affecting all four isoforms has been shown to prevent cilia formation. Transcriptome analyses employing microarrays of L1 and adult stage worms were completed using RNA from daf-19(m86) worms and an isogenic wild type strain to identify additional putative DAF-19 target genes. Using transcriptional fusions with GFP, we compared the expression patterns of several potential gene targets using fluorescence confocal microscopy. Expression patterns were characterized in ...


Sustained Expression With Partial Correction Of Neutrophil Defects 5 Years After Intramuscular Raav1 Gene Therapy For Alpha-1 Antitrypsin Deficiency, Terence R. Flotte, Christian Mueller, Gwladys Gernoux, Alisha Gruntman, Jeffrey D. Chulay, David R. Knop, Noel G. McElvaney, Martha Campbell-Thompson, James M. Wilson 2016 University of Massachusetts Medical School

Sustained Expression With Partial Correction Of Neutrophil Defects 5 Years After Intramuscular Raav1 Gene Therapy For Alpha-1 Antitrypsin Deficiency, Terence R. Flotte, Christian Mueller, Gwladys Gernoux, Alisha Gruntman, Jeffrey D. Chulay, David R. Knop, Noel G. Mcelvaney, Martha Campbell-Thompson, James M. Wilson

UMass Center for Clinical and Translational Science Research Retreat

Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder resulting in emphysema, which is currently treated with weekly infusions of protein replacement. We previously reported achieving plasma wild-type (M) AAT concentrations at 2.5-3.8% of the therapeutic level at 1 year after intramuscular (IM) administration of 6×1012vg/kg of a recombinant adeno-associated virus serotype 1 (rAAV1)-AAT vector in AAT-deficient patients, with an associated regulatory T cell (Treg) response to AAV1 capsid epitopes in the absence of any exogenous immune suppression. Here, we report sustained expression at greater than 2% of the therapeutic level for 5 years after ...


Novel Oncogenic Drivers In Pediatric Gliomagenesis, Alexander K. Diaz 2016 University of Tennessee Health Science Center

Novel Oncogenic Drivers In Pediatric Gliomagenesis, Alexander K. Diaz

Theses and Dissertations (ETD)

Pediatric high-grade gliomas (pHGGs), with a two-year survival rate of less than 20%, are some of the most aggressive human cancers. This dissertation begins with our analysis of 127 pHGGs, including brainstem (BS) and non-brainstem (NBS) tumors, from 118 patients using next-generation sequencing technologies. Nearly one-third of BS-HGGs, also known as diffuse intrinsic pontine gliomas (DIPGs), harbored somatic heterozygous missense mutations in ACVR1, coding for a receptor serine-threonine kinase involved in bone morphogenetic protein (BMP) signaling. These alterations led to gain-of-function as evidenced by increased phosphorylation of downstream targets in primary astrocytes and zebrafish embryo ventralization. Whole-genome sequencing and RNASeq ...


Pharmacogenomic Management Of Familial Hypercholesterolemia: An Integrative Review Of The Literature, Brian V. Skibo 2016 University of Central Florida

Pharmacogenomic Management Of Familial Hypercholesterolemia: An Integrative Review Of The Literature, Brian V. Skibo

Honors in the Major Theses

The purpose of this thesis is to examine familial hypercholesterolemia (FH) and emerging pharmacogenomics therapies that propose to lower serum low density lipid (LDL) levels. The search of various data bases resulted in nine research articles being selected for review. Syntheses of the articles suggest emerging phamacogenomic drug therapy can improve treatment outcomes for individuals with a diagnosis of FH. The Human Genome Project (HGP) has had far reaching applications for genomic technologies and pharmacagenomic interventions, tailored to human conditions associated with select genomic traits. Synthesis of nine research articles demonstrate that little is known on the topic and reveals ...


Construction And Characterization Of An Expressed Sequenced Tag Library For The Mosquito Vector Armigeres Subalbatus, George Mayhew, Lyric Bartholomay, Hang-Yen Kou, Thomas Rocheleau, Jeremy Fuchs, Matthew Aliota, I-Yu Tsao, Chiung-Yen Huang, Tze-Tze Liu, Kwang-Jen Hsiao, Shih-Feng Tsai, Ueng-Cheng Yang, Nicole Perna, Wen-Long Cho, Bruce Christensen, Cheng-Chen Chen 2015 University of Wisconsin–Madison

Construction And Characterization Of An Expressed Sequenced Tag Library For The Mosquito Vector Armigeres Subalbatus, George Mayhew, Lyric Bartholomay, Hang-Yen Kou, Thomas Rocheleau, Jeremy Fuchs, Matthew Aliota, I-Yu Tsao, Chiung-Yen Huang, Tze-Tze Liu, Kwang-Jen Hsiao, Shih-Feng Tsai, Ueng-Cheng Yang, Nicole Perna, Wen-Long Cho, Bruce Christensen, Cheng-Chen Chen

Lyric C. Bartholomay

Background The mosquito, Armigeres subalbatus, mounts a distinctively robust innate immune response when infected with the nematode Brugia malayi, a causative agent of lymphatic filariasis. In order to mine the transcriptome for new insight into the cascade of events that takes place in response to infection in this mosquito, 6 cDNA libraries were generated from tissues of adult female mosquitoes subjected to immune-response activation treatments that lead to well-characterized responses, and from aging, naïve mosquitoes. Expressed sequence tags (ESTs) from each library were produced, annotated, and subjected to comparative analyses. Results Six libraries were constructed and used to generate 44 ...


Functional Analysis Of Genomic Variation And Impact On Molecular And Higher Order Phenotypes, Ashutosh Kumar Pandey 2015 University of Tennessee Health Science Center

Functional Analysis Of Genomic Variation And Impact On Molecular And Higher Order Phenotypes, Ashutosh Kumar Pandey

Theses and Dissertations (ETD)

Reverse genetics methods, particularly the production of gene knockouts and knockins, have revolutionized the understanding of gene function. High throughput sequencing now makes it practical to exploit reverse genetics to simultaneously study functions of thousands of normal sequence variants and spontaneous mutations that segregate in intercross and backcross progeny generated by mating completely sequenced parental lines. To evaluate this new reverse genetic method we resequenced the genome of one of the oldest inbred strains of mice—DBA/2J—the father of the large family of BXD recombinant inbred strains. We analyzed ~100X wholegenome sequence data for the DBA/2J strain ...


Spleen, 2015 Emory University

Spleen

amertz@mymail.vcu.edu

Always seen as a vigorous defense organ but not a vital one, the spleen deserves a scholarship beyond its immune, blood-purifying, or iron-recycling functions. Stemmed of 261 sources, this monograph of 15 chapters and 45 illustrations presents the alpha-to-omega of an enigmatic organ, the spleen: surgical anatomy, mobility; morphology, vasculature, lymphatic drainage; innervation; innate and adaptive immune responses and neuroimmune pathways; dopamine-adrenal promiscuous expressions; nicotine-acetylcholine passages; prostaglandin synthesis; etiology, symptoms and diagnostics of the reactive and neoplastic spleen in rare congenital or systematic diseases; splenosptosis, splenomegaly and various surgical solutions; causality and treatment of the splenic rupture by non-surgical (embolization ...


Conformational Changes And Translocation Of Tissue-Transglutaminase To The Plasma Membranes: Role In Cancer Cell Migration, Ambrish Kumar, Jianjun Hu, Holly LaVoie, Kenneth Walsh, Donald DiPette, Ugra Singh 2015 University of South Carolina - Columbia

Conformational Changes And Translocation Of Tissue-Transglutaminase To The Plasma Membranes: Role In Cancer Cell Migration, Ambrish Kumar, Jianjun Hu, Holly Lavoie, Kenneth Walsh, Donald Dipette, Ugra Singh

Jianjun Hu

Background Tissue-transglutaminase (TG2), a dual function G-protein, plays key roles in cell differentiation and migration. In our previous studies we reported the mechanism of TG2-induced cell differentiation. In present study, we explored the mechanism of how TG2 may be involved in cell migration. Methods To study the mechanism of TG2-mediated cell migration, we used neuroblastoma cells (SH-SY5Y) which do not express TG2, neuroblastoma cells expressing exogenous TG2 (SHYTG2), and pancreatic cancer cells which express high levels of endogenous TG2. Resveratrol, a natural compound previously shown to inhibit neuroblastoma and pancreatic cancer in the animal models, was utilized to investigate the ...


Investigating The Role Of P311 In The Hypertrophic Scar, Jianglin Tan, Xu Peng, Gaoxing Luo, Bing Ma, Chuan Cao, Weifeng He, Shunzong Yuan, Shirong Li, John Wilkins, Jun Wu 2015 Marshall University

Investigating The Role Of P311 In The Hypertrophic Scar, Jianglin Tan, Xu Peng, Gaoxing Luo, Bing Ma, Chuan Cao, Weifeng He, Shunzong Yuan, Shirong Li, John Wilkins, Jun Wu

Bing Ma

The mechanisms of hypertrophic scar formation are not fully understood. We previously screened the differentially expressed genes of human hypertrophic scar tissue and identified P311 gene as upregulated. As the activities of P311 in human fibroblast function are unknown, we examined the distribution of it and the effects of forced expression or silencing of expression of P311. P311 expression was detected in fibroblast-like cells from the hypertrophic scar of burn injury patients but not in peripheral blood mononuclear cells, bone marrow mesenchymal stem cells, epidermal cells or normal skin dermal cells. Transfection of fibroblasts with P311 gene stimulated the expression ...


Spleen, 2015 Emory University

Spleen

Benjamin L. Harwood

Always seen as a vigorous defense organ but not a vital one, the spleen deserves a scholarship beyond its immune, blood-purifying, or iron-recycling functions. Stemmed of 261 sources, this monograph of 15 chapters and 45 illustrations presents the alpha-to-omega of an enigmatic organ, the spleen: surgical anatomy, mobility; morphology, vasculature, lymphatic drainage; innervation; innate and adaptive immune responses and neuroimmune pathways; dopamine-adrenal promiscuous expressions; nicotine-acetylcholine passages; prostaglandin synthesis; etiology, symptoms and diagnostics of the reactive and neoplastic spleen in rare congenital or systematic diseases; splenosptosis, splenomegaly and various surgical solutions; causality and treatment of the splenic rupture by non-surgical (embolization ...


Spleen, 2015 Emory University

Spleen

Alquiler Coches

Always seen as a vigorous defense organ but not a vital one, the spleen deserves a scholarship beyond its immune, blood-purifying, or iron-recycling functions. Stemmed of 261 sources, this monograph of 15 chapters and 45 illustrations presents the alpha-to-omega of an enigmatic organ, the spleen: surgical anatomy, mobility; morphology, vasculature, lymphatic drainage; innervation; innate and adaptive immune responses and neuroimmune pathways; dopamine-adrenal promiscuous expressions; nicotine-acetylcholine passages; prostaglandin synthesis; etiology, symptoms and diagnostics of the reactive and neoplastic spleen in rare congenital or systematic diseases; splenosptosis, splenomegaly and various surgical solutions; causality and treatment of the splenic rupture by non-surgical (embolization ...


Selection Of An Ancestry-Informative Marker (Aim) Panel Of Indels, Lindsey M. Thompson B.S. 2015 University of North Texas Health Science Center at Fort Worth

Selection Of An Ancestry-Informative Marker (Aim) Panel Of Indels, Lindsey M. Thompson B.S.

Theses and Dissertations

Short Tandem Repeat (STR) loci are commonly used for forensic identification purposes. Most commercially available STR kits yield amplified fragments with lengths between 100 and 600 base pairs (bp). However, the genomic DNA of forensic samples can be highly degraded, yielding incomplete STR profiles. Small insertion/deletion polymorphisms (INDELs) in the intergenic regions of the genome, are viable options for typing degraded samples. Furthermore, when there are no suspects for comparison, ancestry-informative markers (AIMs) are useful for developing investigative leads. This project tested the hypothesis that using publicly available genome data, a panel of AIM-INDELs can be selected for the ...


Correlation Matrix Analysis Identifies Gene Signatures Of Immune Cell Subsets And Their Interactions In Follicular Lymphoma, Jason R. Westin 2015 The University of Texas Graduate School of Biomedical Sciences at Houston

Correlation Matrix Analysis Identifies Gene Signatures Of Immune Cell Subsets And Their Interactions In Follicular Lymphoma, Jason R. Westin

UT GSBS Dissertations and Theses (Open Access)

There are important but ill-defined interactions between benign immune cell subsets and neoplastic B cells within follicular lymphoma (FL). Using the novel technique of correlation matrix analysis (CMA) of publicly available FL whole-tumor gene expression profiling (GEP) data, we have identified signatures of immune cell subsets. Overall survival correlated most highly with a model using signatures of macrophages, T cells, and stroma, which was able to add significantly to existing clinical prognostic tools. From our own data of a cohort of 43 FL tumors sorted into B-cell and non-B cell (NB) fractions for GEP, CMA of the tumor infiltrating NB ...


Integration Of Atm, Atr, And Dna-Pkcs Signaling Maintains Genome Integrity During Neurogenesis, Vanessa D. Enriquez-Rios 2015 University of Tennessee Health Science Center

Integration Of Atm, Atr, And Dna-Pkcs Signaling Maintains Genome Integrity During Neurogenesis, Vanessa D. Enriquez-Rios

Theses and Dissertations (ETD)

The DNA damage response (DDR) orchestrates a network of cellular processes such as cell cycle progression, DNA repair, and apoptosis when complex DNA lesions arise to maintain genomic integrity. ATM, ATR, and DNA-PKcs (encoded by PRKDC) are related phosphatidylinositol-3-kinase like serine/threonine kinases (PIKK) that collectively regulate the DDR network. Studies have demonstrated these kinases can phosphorylate many of the same substrates, suggesting a significant potential for functional redundancy. However, deficiencies in these kinases have been linked to distinct neural degenerative and developmental disorders, underscoring their unique functions for maintain genomic integrity during nervous system development.

Here we utilized mouse ...


Comparative Transcriptome Analyses Of Pseudomonas Aeruginosa, Deepak Balasubramanian, Kalai Mathee 2015 Florida International University, Department of Biological Sciences

Comparative Transcriptome Analyses Of Pseudomonas Aeruginosa, Deepak Balasubramanian, Kalai Mathee

Kalai Mathee

One of the hallmarks of bacterial survival is their ability to adapt rapidly to changing environmental conditions. Niche adaptation is a response to the signals received that are relayed, often to regulators that modulate gene expression. In the post-genomic era, DNA microarrays are used to study the dynamics of gene expression on a global scale. Numerous studies have used Pseudomonas aeruginosa--a Gram-negative environmental and opportunistic human pathogenic bacterium--as the model organism in whole-genome transcriptome analysis. This paper reviews the transcriptome studies that have led to immense advances in our understanding of the biology of this intractable human pathogen. Comparative analysis ...


Combination Of 16s Rrna Variable Regions Provides A Detailed Analysis Of Bacterial Community Dynamics In The Lungs Of Cystic Fibrosis Patients, Melissa Doud, Michael Light, Gisela Gonzalez, Giri Narasimhan, Kalai Mathee 2015 Florida International University, Department of Biological Sciences

Combination Of 16s Rrna Variable Regions Provides A Detailed Analysis Of Bacterial Community Dynamics In The Lungs Of Cystic Fibrosis Patients, Melissa Doud, Michael Light, Gisela Gonzalez, Giri Narasimhan, Kalai Mathee

Kalai Mathee

Chronic bronchopulmonary bacterial infections remain the most common cause of morbidity and mortality among patients with cystic fibrosis (CF). Recent community sequencing work has now shown that the bacterial community in the CF lung is polymicrobial. Identifying bacteria in the CF lung through sequencing can be costly and is not practical for many laboratories. Molecular techniques such as terminal restriction fragment length polymorphism or amplicon length heterogeneity-polymerase chain reaction (LH-PCR) can provide many laboratories with the ability to study CF bacterial communities without costly sequencing. The aim of this study was to determine if the use of LH-PCR with multiple ...


Spleen, 2015 Emory University

Spleen

kurupworks@gmail.com

Always seen as a vigorous defense organ but not a vital one, the spleen deserves a scholarship beyond its immune, blood-purifying, or iron-recycling functions. Stemmed of 261 sources, this monograph of 15 chapters and 45 illustrations presents the alpha-to-omega of an enigmatic organ, the spleen: surgical anatomy, mobility; morphology, vasculature, lymphatic drainage; innervation; innate and adaptive immune responses and neuroimmune pathways; dopamine-adrenal promiscuous expressions; nicotine-acetylcholine passages; prostaglandin synthesis; etiology, symptoms and diagnostics of the reactive and neoplastic spleen in rare congenital or systematic diseases; splenosptosis, splenomegaly and various surgical solutions; causality and treatment of the splenic rupture by non-surgical (embolization ...


"Targeting Cell Cycle Proteins In Breast Cancer Cells With Sirna By Using Lipid-Substituted Polyethylenimines" Data Files, Manoj Parmar, Hamidreza Montazeri Aliabadi, Parvin Mahdipoor, Cezary Kucharski, Robert Maranchuk, Judith C. Hugh, Hasan Uludag 2015 Chapman University

"Targeting Cell Cycle Proteins In Breast Cancer Cells With Sirna By Using Lipid-Substituted Polyethylenimines" Data Files, Manoj Parmar, Hamidreza Montazeri Aliabadi, Parvin Mahdipoor, Cezary Kucharski, Robert Maranchuk, Judith C. Hugh, Hasan Uludag

Pharmacy Faculty Data Sets

The cell cycle proteins are key regulators of cell cycle progression whose de-regulation is one of the causes of breast cancer. RNA interference (RNAi) is an endogenous mechanism to regulate gene expression and it could serve as the basis of regulating aberrant proteins including cell cycle proteins. Since the delivery of small interfering RNA (siRNA) is a main barrier for implementation of RNAi therapy, we explored the potential of a non-viral delivery system, 2.0 kDa polyethylenimines substituted with linoleic acid and caprylic acid, for this purpose. Using a library of siRNAs against cell cycle proteins, we identified cell division ...


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