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Structural Basis For The Simultaneous Recognition Of Nemo And Acceptor Ubiquitin By The Hoip Nzf1 Domain, Simin Rahighi, Mamta Iyer, Hamid Oveisi, Sammy Nasser, Vincent Duong 2022 Chapman University

Structural Basis For The Simultaneous Recognition Of Nemo And Acceptor Ubiquitin By The Hoip Nzf1 Domain, Simin Rahighi, Mamta Iyer, Hamid Oveisi, Sammy Nasser, Vincent Duong

Pharmacy Faculty Articles and Research

Ubiquitination of NEMO by the linear ubiquitin chain assembly complex (LUBAC) is essential for activating the canonical NF-κB signaling pathway. While the NZF1 domain of the HOIP subunit of LUBAC recognizes the NEMO substrate, it is unclear how it cooperates with the catalytic domains in the ubiquitination process. Here, we report a crystal structure of NEMO in complex with HOIP NZF1 and linear diubiquitin chains, in which the two proteins bind to distinct sites on NEMO. Moreover, the NZF1 domain simultaneously interacts with NEMO and Ile44 surface of a proximal ubiquitin from a linear diubiquitin chain, where the C-term tail ...


Palmitoylation As A Regulator Of Maguk Proteins Postsynaptic Localization, Santiago Balderas, Rozena Shirvani-Arani, Xiaoqian Fang, Yonghong Zhang 2022 The University of Texas Rio Grande Valley

Palmitoylation As A Regulator Of Maguk Proteins Postsynaptic Localization, Santiago Balderas, Rozena Shirvani-Arani, Xiaoqian Fang, Yonghong Zhang

MEDI 8127 Scholarly Activities Pre-Clerkship

Synaptic plasticity is the ability of the brain to make changes and the changes occur at synapses. To achieve the complicated functions, a good number of proteins are present at synapse and are called synaptic proteins. To stabilize these proteins at synapses, proteins are modified through posttranslational modifications (PTMs). The most studied PTMs include phosphorylation, acetylation, ubiquitination, glycosylation, palmitoylation, etc. Palmitoylation is a type of lipid modification and has received more attention recently for its contribution to protein trafficking, localization, and interaction in various synaptic plasticity. The membrane-associated guanylate kinase (MAGUK) family includes PSD-95, PSD-93 (also known as chapsyn-110), SAP102 ...


Identification Of Healthspan-Promoting Genes In Caenorhabditis Elegans Based On A Human Gwas Study, Nadine Saul, Ineke Dhondt, Mikko Kuokkanen, Markus Perola, Clara Verschuuren, Brecht Wouters, Henrik von Chrzanowski, Winnok H. De Vos, Liesbet Temmerman, Walter Luyten 2022 The University of Texas Rio Grande Valley

Identification Of Healthspan-Promoting Genes In Caenorhabditis Elegans Based On A Human Gwas Study, Nadine Saul, Ineke Dhondt, Mikko Kuokkanen, Markus Perola, Clara Verschuuren, Brecht Wouters, Henrik Von Chrzanowski, Winnok H. De Vos, Liesbet Temmerman, Walter Luyten

School of Medicine Publications and Presentations

To find drivers of healthy ageing, a genome-wide association study (GWAS) was performed in healthy and unhealthy older individuals. Healthy individuals were defined as free from cardiovascular disease, stroke, heart failure, major adverse cardiovascular event, diabetes, dementia, cancer, chronic obstructive pulmonary disease (COPD), asthma, rheumatism, Crohn’s disease, malabsorption or kidney disease. Six single nucleotide polymorphisms (SNPs) with unknown function associated with ten human genes were identified as candidate healthspan markers. Thirteen homologous or closely related genes were selected in the model organism C. elegans for evaluating healthspan after targeted RNAi-mediated knockdown using pathogen resistance, muscle integrity, chemotaxis index and ...


Channelopathy Of Small- And Intermediate-Conductance Ca2+-Activated K+ Channels, Young-Woo Nam, Myles Downey, Mohammad Asikur Rahman, Meng Cui, Miao Zhang 2022 Chapman University

Channelopathy Of Small- And Intermediate-Conductance Ca2+-Activated K+ Channels, Young-Woo Nam, Myles Downey, Mohammad Asikur Rahman, Meng Cui, Miao Zhang

Pharmacy Faculty Articles and Research

Small- and intermediate-conductance Ca2+-activated K+ (KCa2.x/KCa3.1 also called SK/IK) channels are gated exclusively by intracellular Ca2+. The Ca2+ binding protein calmodulin confers sub-micromolar Ca2+ sensitivity to the channel-calmodulin complex. The calmodulin C-lobe is constitutively associated with the proximal C-terminus of the channel. Interactions between calmodulin N-lobe and the channel S4-S5 linker are Ca2+-dependent, which subsequently trigger conformational changes in the channel pore and open the gate. KCNN genes encode four subtypes, including KCNN1 for KCa2.1 (SK1), KCNN2 for KCa2.2 ...


Genomic Features Underlie The Co-Option Of Sva Transposons As Cis-Regulatory Elements In Human Pluripotent Stem Cells, Samantha M Barnada, Andrew Isopi, Daniela Tejada-Martinez, Clément Goubert, Sruti Patoori, Luca Pagliaroli, Mason Tracewell, Marco Trizzino 2022 Thomas Jefferson University

Genomic Features Underlie The Co-Option Of Sva Transposons As Cis-Regulatory Elements In Human Pluripotent Stem Cells, Samantha M Barnada, Andrew Isopi, Daniela Tejada-Martinez, Clément Goubert, Sruti Patoori, Luca Pagliaroli, Mason Tracewell, Marco Trizzino

Department of Biochemistry and Molecular Biology Faculty Papers

Domestication of transposable elements (TEs) into functional cis-regulatory elements is a widespread phenomenon. However, the mechanisms behind why some TEs are co-opted as functional enhancers while others are not are underappreciated. SINE-VNTR-Alus (SVAs) are the youngest group of transposons in the human genome, where ~3,700 copies are annotated, nearly half of which are human-specific. Many studies indicate that SVAs are among the most frequently co-opted TEs in human gene regulation, but the mechanisms underlying such processes have not yet been thoroughly investigated. Here, we leveraged CRISPR-interference (CRISPRi), computational and functional genomics to elucidate the genomic features that underlie SVA ...


Epigenetic Mechanisms Influencing Therapeutic Response In Breast Cancer., Amaia Arruabarrena-Aristorena, Eneda Toska 2022 CIC bioGUNE

Epigenetic Mechanisms Influencing Therapeutic Response In Breast Cancer., Amaia Arruabarrena-Aristorena, Eneda Toska

Kimmel Cancer Center Faculty Papers

The majority of breast cancers are estrogen receptor (ER)+ and agents targeting the ER signaling pathway have markedly increased survival for women with breast cancer for decades. However, therapeutic resistance eventually emerges, especially in the metastatic setting. In the past decade disrupted epigenetic regulatory processes have emerged as major contributors to carcinogenesis in many cancer types. Aberrations in chromatin modifiers and transcription factors have also been recognized as mediators of breast cancer development and therapeutic outcome, and new epigenetic-based therapies in combination with targeted therapies have been proposed. Here we will discuss recent progress in our understanding of the chromatin-based ...


Genomic Answers For Children: Dynamic Analyses Of >1000 Pediatric Rare Disease Genomes., Ana S A Cohen, Emily G. Farrow, Ahmed Abdelmoity, Joseph Alaimo, Shivarajan Manickavasagam Amudhavalli, John Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra Engleman, Erin Day Fecske, Cynthia Fieser, Keely M. Fitzgerald, Emily Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce Heese, Wendy Hein, Suzanne M. Herd, Susan Starling Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussman, Christine Lambert, Caitlin E. Lawson, Jean-Baptist LePichon, J Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M B Puckett, Julio Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah E. Soden, Meghan Strenk, Bonnie Sullivan, Brooke Sweeney, Jade B. Tam-Williams, Adam Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen 2022 Children's Mercy Hospital

Genomic Answers For Children: Dynamic Analyses Of >1000 Pediatric Rare Disease Genomes., Ana S A Cohen, Emily G. Farrow, Ahmed Abdelmoity, Joseph Alaimo, Shivarajan Manickavasagam Amudhavalli, John Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra Engleman, Erin Day Fecske, Cynthia Fieser, Keely M. Fitzgerald, Emily Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce Heese, Wendy Hein, Suzanne M. Herd, Susan Starling Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussman, Christine Lambert, Caitlin E. Lawson, Jean-Baptist Lepichon, J Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. Mcdonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M B Puckett, Julio Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah E. Soden, Meghan Strenk, Bonnie Sullivan, Brooke Sweeney, Jade B. Tam-Williams, Adam Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.

METHODS: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes.

RESULTS: Diagnostic rates ranged from 11% in patients with prior negative ...


Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons 2022 University of Maine

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations ...


Genetic Origins Of Polycystic Ovarian Syndrome (Pcos): An Analysis Of The Genetic Correlation Between Pcos And Insulin Receptor Mutations, Lauren Henry 2022 Bellarmine University

Genetic Origins Of Polycystic Ovarian Syndrome (Pcos): An Analysis Of The Genetic Correlation Between Pcos And Insulin Receptor Mutations, Lauren Henry

Undergraduate Theses

Polycystic Ovarian Syndrome (PCOS) remains an extremely common, yet understudied syndrome experienced by 6-12% of females of reproductive age. Not only does it cause painful side effects manifesting both physically and mentally, but it also poses a threat to the fertility of those affected. For this reason, a more in-depth analysis to better understand how to detect this condition early and prevent fertility complications later is certainly warranted. PCOS is suspected to be primarily genetic due to correlations among immediate female family members. Based on previous research, a good starting point for analysis is the INSR gene. Various mutations within ...


The Use Of Embark In Teaching About Genetic Relatedness, Anna Bonvillain, Tori Trammel 2022 University of Mississippi

The Use Of Embark In Teaching About Genetic Relatedness, Anna Bonvillain, Tori Trammel

Honors Theses

Because of the increasing importance of precision medicine, it is vital that future healthcare providers master concepts related to genetic variation taught during their undergraduate classes. However, studies have shown that physicians often lack an adequate understanding of genetics, which serves as a hindrance to effectively caring for their patients. To address this issue, we created a collaborative active-learning protocol to improve pre-health students' comprehension of key concepts such as genetic relatedness and the source of genetic variation between siblings. Our worksheet guides students to compare the genetic profiles of two canine siblings using the Embark DNA genotyping platform. Embark ...


Stat3 Dysregulation Of Xrcc1 Results On Altered Base Excision Repair, Griffin Wright 2022 University of South Alabama

Stat3 Dysregulation Of Xrcc1 Results On Altered Base Excision Repair, Griffin Wright

Theses and Dissertations

Base Excision Repair (BER) is a critical DNA repair pathway, repairing base damage, the spontaneous decay of bases, abasic sites, and single-strand DNA breaks. BER requires the sequential action of multiple proteins, including poly(ADP ribose) polymerase 1 (PARP1), X-ray cross complementing group 1 (XRCC1), and DNA polymerase beta (POL 𝛽). Expression changes and polymorphisms in BER proteins alter the response of cancer cells to multiple DNA damaging chemotherapeutics, with overexpression of XRCC1 increasing chemoresistance in gastric, gallbladder, and ovarian cancer. However, the transcriptional regulation of XRCC1 remains largely understudied. Here, we identify the signal transducer and activator of transcription ...


Natural Killer Cells In Liver Transplantation: Can We Harness The Power Of The Immune Checkpoint To Promote Tolerance?, Jennifer Halma, Stephen Pierce, Rebecca McLennan, Todd Bradley, Ryan T. Fischer 2022 Children's Mercy Hospital

Natural Killer Cells In Liver Transplantation: Can We Harness The Power Of The Immune Checkpoint To Promote Tolerance?, Jennifer Halma, Stephen Pierce, Rebecca Mclennan, Todd Bradley, Ryan T. Fischer

Manuscripts, Articles, Book Chapters and Other Papers

The roles that natural killer (NK) cells play in liver disease and transplantation remain ill-defined. Reports on the matter are often contradictory, and the mechanisms elucidated are complex and dependent on the context of the model tested. Moreover, NK cell attributes, such as receptor protein expression and function differ among species, make study of primate or rodent transplant models challenging. Recent insights into NK function and NK-mediated therapy in the context of cancer therapy may prove applicable to transplantation. Of specific interest are immune checkpoint molecules and the mechanisms by which they modulate NK cells in the tumor micro-environment. In ...


The Role Of Obesity In Macrophage-Mediated Mechanisms Promoting Early-Onset Colon Cancer., Katharina Marietta Scheurlen 2022 University of Louisville

The Role Of Obesity In Macrophage-Mediated Mechanisms Promoting Early-Onset Colon Cancer., Katharina Marietta Scheurlen

Electronic Theses and Dissertations

Early-onset colon cancer (EOCC) is a leading cause of cancer death among people younger than 50 years of age in the United States and is associated with metabolic dysfunction and obesity. Anti-inflammatory tumor-associated macrophages (TAM) and low Peroxisome Proliferator Activated Receptor Gamma (PPARγ) gene expression in colon cancer (CC) tissue promote tumor progression and decreased patient survival. Obesity-related hormones, such as leptin and adiponectin, have the potential to affect gene expression in TAM to promote CC progression and thereby link obesity and EOCC. The aim of this project was to identify target genes in human CC and to investigate the ...


Enpp1 Variants In Patients With Gaci And Pxe Expand The Clinical And Genetic Heterogeneity Of Heritable Disorders Of Ectopic Calcification., Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li 2022 Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

Enpp1 Variants In Patients With Gaci And Pxe Expand The Clinical And Genetic Heterogeneity Of Heritable Disorders Of Ectopic Calcification., Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li

Department of Medicine Faculty Papers

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Variants in ENPP1, the gene mutated in GACI, have not been associated with classic PXE. Here we report the clinical, laboratory, and molecular evaluations of ten GACI and two PXE patients from five and two unrelated families registered in GACI Global and PXE International databases, respectively. All patients were found to carry biallelic variants in ENPP1. Among ten ENPP1 variants, one homozygous variant demonstrated uniparental disomy ...


Epigenetic Pathogenesis Of Neurological Disorders In Utero And Considerations For Genetic Counseling, Lauren Juga 2022 Liberty University

Epigenetic Pathogenesis Of Neurological Disorders In Utero And Considerations For Genetic Counseling, Lauren Juga

Senior Honors Theses

Epigenetic modifications are a major focus of study in the pathogenesis of many disorders regarding metabolism, aging, neurodevelopment, and neurodegeneration. Epigenetic mechanisms are present throughout life but are especially vital to guiding fetal development. The precise timing of gene activation and deactivation guides stem cell differentiation through each embryonic stage. After exposure to environmental stimuli, gene expression can be altered by transcription factors, resulting in observable phenotypes and even pathology. Here, the epigenetic mechanisms responsible for the pathogenesis of neurodevelopmental and neuropsychiatric disorders are explored in response to environmental perturbations in utero. The present goal is to identify correlations between ...


The Experiences And Needs Of Individuals With A Variant Of Uncertain Significance (Vus) On Genetic Tests For Hereditary Cancer Syndromes: A Grounded Theory Study, Danielle Gould 2022 University of Massachusetts Amherst

The Experiences And Needs Of Individuals With A Variant Of Uncertain Significance (Vus) On Genetic Tests For Hereditary Cancer Syndromes: A Grounded Theory Study, Danielle Gould

Doctoral Dissertations

Background: The use of multigene panel testing for identifying individuals with hereditary cancer susceptibility has expanded in recent years. The number of individuals who have a variant of unknown significance (VUS) result is increasing. However, little is known about the experiences and needs of this group. This study’s purpose was to describe the experiences and needs of individuals with a VUS result by focusing on their experiences in communicating with healthcare providers and family members. Methods: A constructivist grounded theory approach was used. Recruitment took place from January–July 2021 through social media: the Prospective Registry of Multiplex Testing ...


Differential Microrna Expression In Glioblastoma As A Therapeutic Target Or Potential Biomarker, Drew Hines, Levi Marcum, Aubrey Strong, Ryan Wade 2022 Cedarville University

Differential Microrna Expression In Glioblastoma As A Therapeutic Target Or Potential Biomarker, Drew Hines, Levi Marcum, Aubrey Strong, Ryan Wade

Channels: Where Disciplines Meet

MicroRNA (miRNA) is an epigenetic factor that plays an important role in the post-transcriptional regulation of gene and protein expression. Recent research has shown that in many types of cancer, differentially expressed levels of certain types of miRNA are significantly correlated with the transformation of and ongoing issues caused by cancer cells. Specifically, in Glioblastoma, one of the most lethal and aggressive human cancers, differential levels of miRNAs contribute to the cell’s lack of pro-apoptotic gene presence and its high resistance to current treatments. Results from current studies could provide information about which microRNAs are differentially expressed in glioblastoma ...


Molecular Diagnoses Of X-Linked And Other Genetic Hypophosphatemias: Results From A Sponsored Genetic Testing Program., Eric T. Rush, Britt Johnson, Swaroop Aradhya, Daniel Beltran, Sara L. Bristow, Scott Eisenbeis, Norma E. Guerra, Stan Krolczyk, Nicole Miller, Ana Morales, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, Kathryn Dahir 2022 Children's Mercy Hospital

Molecular Diagnoses Of X-Linked And Other Genetic Hypophosphatemias: Results From A Sponsored Genetic Testing Program., Eric T. Rush, Britt Johnson, Swaroop Aradhya, Daniel Beltran, Sara L. Bristow, Scott Eisenbeis, Norma E. Guerra, Stan Krolczyk, Nicole Miller, Ana Morales, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, Kathryn Dahir

Manuscripts, Articles, Book Chapters and Other Papers

X-linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic variants in the PHEX gene, affects both sexes of all ages and results in elevated serum fibroblast growth factor 23 (FGF23) and below-normal serum phosphate. In XLH, rickets, osteomalacia, short stature, and lower limb deformity may be present with muscle pain and/or weakness/fatigue, bone pain, joint pain/stiffness, hearing difficulty, enthesopathy, osteoarthritis, and dental abscesses. Invitae and Ultragenyx collaborated to provide a no-charge sponsored testing program using a 13-gene next-generation sequencing panel to confirm clinical XLH or aid diagnosis of suspected XLH/other genetic hypophosphatemia. Individuals aged ≥6 months ...


Using Crispr Gene Editing To Prevent Accumulation Of Lipids In Hepatocytes, Erin Young, Cem Kuscu, Christine Watkins, Murat Dogan 2022 University of Tennessee Health Science Center

Using Crispr Gene Editing To Prevent Accumulation Of Lipids In Hepatocytes, Erin Young, Cem Kuscu, Christine Watkins, Murat Dogan

Longitudinal Scholar's Project

CRISPR gene editing is a molecular technology that can be used to silence gene expression. In this experiment, genes that are known to play a role in lipid accumulation in hepatocytes were targeted. Specifically, levels of fatty acid transport proteins 2 and 5 (FATP2 & 5) have been shown to be elevated in cases of non-alcoholic fatty liver disease. The goal of this experiment was to reduce expression of these genes by using a dead Cas9 (dCas9) protein with an attached inhibitory domain (KRAB) that acts on the promotor region. When measuring the mRNA expression, it was determined that the levels ...


Extracellular Mechanotransduction, Stephen J. Haller, Andrew T. Dudley 2022 University of Nebraska Medical Center

Extracellular Mechanotransduction, Stephen J. Haller, Andrew T. Dudley

Journal Articles: Genetics, Cell Biology & Anatomy

We highlight the force-sensing function of extracellular matrix and present a complementary mechanotransduction paradigm.


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