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Building A Bridge Between Genetics And Outcomes Research: Application In Autism (The Autgo Study)., Zohreh Talebizadeh, Ayten Shah, PCORI EAIN-2419 Working Group 2018 Children's Mercy Hospital

Building A Bridge Between Genetics And Outcomes Research: Application In Autism (The Autgo Study)., Zohreh Talebizadeh, Ayten Shah, Pcori Eain-2419 Working Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Concerns over the need to improve translational aspects of genetics research studies and engaging community members in the research process have been noted in the literature and raised by patient advocates. In addition to the work done by patient advocacy groups, organizations such as the Patient-Centered Outcomes Research Institute advocate for a change in the culture of research from being researcher-driven to becoming more patient-driven.

OBJECTIVE: Our project, Autism Genetics and Outcomes (AutGO), consists of two phases. The goal for phase I was to initiate a general discussion around the main topic (i.e., linking genetics and outcomes research ...


Clinical And Pharmacogenetic Determinants Of Plasma Factor Xa Inhibitor Systemic Exposure, Markus Gulilat 2018 The University of Western Ontario

Clinical And Pharmacogenetic Determinants Of Plasma Factor Xa Inhibitor Systemic Exposure, Markus Gulilat

Electronic Thesis and Dissertation Repository

Inhibition of blood coagulation via oral anticoagulant therapy is the mainstay for preventing a cardioembolic stroke in patients with atrial fibrillation (AF). Factor Xa inhibitors (FXaIs), rivaroxaban and apixaban, represent a new class of oral anticoagulants that are now widely prescribed in AF patients as an alternative to traditional warfarin therapy. An important advantage of these drugs is that routine monitoring of anticoagulation response is not necessary. Nevertheless, because of their mechanism of action, FXaI antithrombotic effect can be inferred based on the observed drug plasma concentration, with prolonged periods of elevated FXaI systemic exposure associated with increased risk for ...


Improving The Sensitivity Of Real-Time Pcr Detection Of Group B Streptococcus Using Consensus Sequence-Derived Oligonucleotides, Ameneh Khatami, Tara M Randis, Anna Chamby, Thomas A Hooven, Margaret Gegick, Evan Suzman, Brady A'Hearn-Thomas, Andrew P Steenhoff, Adam J Ratner 2018 University of Iowa

Improving The Sensitivity Of Real-Time Pcr Detection Of Group B Streptococcus Using Consensus Sequence-Derived Oligonucleotides, Ameneh Khatami, Tara M Randis, Anna Chamby, Thomas A Hooven, Margaret Gegick, Evan Suzman, Brady A'Hearn-Thomas, Andrew P Steenhoff, Adam J Ratner

Stead Family Department of Pediatrics Publications

Group B Streptococcus (GBS) is a perinatal pathogen and an emerging cause of disease in adults. Culture-independent GBS detection relies on polymerase chain reaction (PCR) of conserved genes, including sip. We demonstrate suboptimal sensitivity of the existing sip PCR strategy and validate an improved method based on consensus sequences from >100 GBS genomes.


Polymorphisms Within Ryr3 Gene Are Associated With Risk And Age At Onset Of Hypertension, Diabetes, And Alzheimer's Disease, Shaoqing Gong, Brenda Bin Su, Hugo Tovar, ChunXiang Mao, Valeria Gonzalez, Ying Liu, Yongke Lu, Ke-Sheng Wang, Chun Xu 2018 Marshall University

Polymorphisms Within Ryr3 Gene Are Associated With Risk And Age At Onset Of Hypertension, Diabetes, And Alzheimer's Disease, Shaoqing Gong, Brenda Bin Su, Hugo Tovar, Chunxiang Mao, Valeria Gonzalez, Ying Liu, Yongke Lu, Ke-Sheng Wang, Chun Xu

Pharmacology, Physiology and Toxicology

Background: Hypertension affects 33% of Americans while type 2 diabetes and Alzheimer's disease (AD) affect 10% of Americans, respectively. Ryanodine receptor 3 gene (RYR3) codes for the RYR which functions to release stored endoplasmic reticulum calcium ions (Ca2+) to increase intracellular Ca2+ concentration. Increasing studies demonstrate that altered levels of intracellular Ca2+ affect cardiac contraction, insulin secretion, and neurodegeneration. In this study, we investigated associations of the RYR3 genetic variants with hypertension, AD, and diabetes.

Methods: Family data sets were used to explore association of RYR3 polymorphisms with risk and age at onset (AAO) of hypertension, diabetes, and AD ...


Evaluation Of The Illumigene Mycoplasma Direct Dna Amplification Assay, Neena Kanwar, Morgan A. Pence, Donna Mayne, Jeff Michael, Rangaraj Selvarangan 2018 Children's Mercy Hospital

Evaluation Of The Illumigene Mycoplasma Direct Dna Amplification Assay, Neena Kanwar, Morgan A. Pence, Donna Mayne, Jeff Michael, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

Copyright © 2018 Kanwar et al. Mycoplasma pneumoniae is a common cause of community-acquired pneumonia. The illumigene Mycoplasma Direct (IMD) DNA amplification assay is a qualitative in vitro test utilizing loop-mediated isothermal amplification (LAMP) technology for the direct detection of M. Pneumoniae DNA in respiratory specimens. The IMD assay does not require the preextraction of nucleic acids from specimens, which is a prerequisite step for the previously approved illumigene Mycoplasma (iM) assay. The aim of this prospective multicenter study was to evaluate the performance characteristics of the newly developed IMD assay, compared with the iM assay. Subjects with symptoms of upper ...


A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong 2018 NUS High School of Mathematics and Science

A Humanized Hypertrophic Cardiomyopathy Model To Elucidate Molecular Mechanism In Disease Pathology, Ragavi Vijayakumar, Maxine Hong

The International Student Science Fair 2018

Hypertrophic cardiomyopathy (HCM), that clinically manifests as an enlarged heart is a highly prevalent cardiac disorder with propensity towards arrhythmia-induced sudden cardiac death. The mechanism of HCM remains poorly defined, necessitating further understanding of the disease for improved therapeutic strategies. As it is challenging to obtain cardiac biopsies from human subjects, using induced pluripotent stem cells technology, we generated cardiomyocytes (CMs) in a dish from HCM patients. These HCM-CMs presented the clinical manifestation in that they were significantly larger in size in comparison to control (healthy)-CMs. Furthermore, gene expression profiling of cardiac ion channels revealed increased transcripts encoding for ...


Extracellular Release Of Virulence Factor Major Surface Protease Via Exosomes In Leishmania Infantum Promastigotes, Skye Marshall, Patrick H Kelly, Brajesh K Singh, R Marshall Pope, Peter Kim, Bayan Zhanbolat, Mary E Wilson, Chaoqun Yao 2018 University of Iowa

Extracellular Release Of Virulence Factor Major Surface Protease Via Exosomes In Leishmania Infantum Promastigotes, Skye Marshall, Patrick H Kelly, Brajesh K Singh, R Marshall Pope, Peter Kim, Bayan Zhanbolat, Mary E Wilson, Chaoqun Yao

Stead Family Department of Pediatrics Publications

BACKGROUND: The Leishmania spp. protozoa are introduced into humans through a sand fly blood meal, depositing the infectious metacyclic promastigote form of the parasite into human skin. Parasites enter a variety of host cells, although a majority are found in macrophages where they replicate intracellularly during chronic leishmaniasis. Symptomatic leishmaniasis causes considerable human morbidity in endemic regions. The Leishmania spp. evade host microbicidal mechanisms partially through virulence-associated proteins such as the major surface protease (MSP or GP63), to inactivate immune factors in the host environment. MSP is a metalloprotease encoded by a tandem array of genes belonging to three msp ...


Congenital Heart Defects And Ciliopathies Associated With Renal Phenotypes, George C. Gabriel, Gregory J. Pazour, Cecilia W. Lo 2018 University of Pittsburgh

Congenital Heart Defects And Ciliopathies Associated With Renal Phenotypes, George C. Gabriel, Gregory J. Pazour, Cecilia W. Lo

Open Access Publications by UMMS Authors

Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney development and disease, it is not surprising that renal anomalies were found to be enriched among CHD mutant mice recovered in a large-scale mouse forward genetic screen. Indeed 42% of mutations identified to cause both CHD and renal anomalies were cilia-related. Many of these cilia mutations comprise cilia transition zone or inversin compartment components, consistent with the known role of these ...


Apoe And Alzheimer’S Disease: Neuroimaging Of Metabolic And Cerebrovascular Dysfunction, Jason A. Brandon, Brandon C. Farmer, Holden C. Williams, Lance A. Johnson 2018 University of Kentucky

Apoe And Alzheimer’S Disease: Neuroimaging Of Metabolic And Cerebrovascular Dysfunction, Jason A. Brandon, Brandon C. Farmer, Holden C. Williams, Lance A. Johnson

Physiology Faculty Publications

Apolipoprotein E4 (ApoE4) is the strongest genetic risk factor for late onset Alzheimer’s Disease (AD), and is associated with impairments in cerebral metabolism and cerebrovascular function. A substantial body of literature now points to E4 as a driver of multiple impairments seen in AD, including blunted brain insulin signaling, mismanagement of brain cholesterol and fatty acids, reductions in blood brain barrier (BBB) integrity, and decreased cerebral glucose uptake. Various neuroimaging techniques, in particular positron emission topography (PET) and magnetic resonance imaging (MRI), have been instrumental in characterizing these metabolic and vascular deficits associated with this important AD risk factor ...


The Zinc Transporter Zipt-7.1 Regulates Sperm Activation In Nematodes, Yanmei Zhao, Chieh-Hsiang Tan, Amber Krauchunas, Andrea Scharf, Nicholas Dietrich, Kurt Warnhoff, Zhiheng Yuan, Marina Druzhinina, Sam Guoping Gu, Long Miao, Andrew Singson, Ronald E Ellis, Kerry Kornfeld 2018 Rowan University

The Zinc Transporter Zipt-7.1 Regulates Sperm Activation In Nematodes, Yanmei Zhao, Chieh-Hsiang Tan, Amber Krauchunas, Andrea Scharf, Nicholas Dietrich, Kurt Warnhoff, Zhiheng Yuan, Marina Druzhinina, Sam Guoping Gu, Long Miao, Andrew Singson, Ronald E Ellis, Kerry Kornfeld

School of Osteopathic Medicine Faculty Scholarship

Sperm activation is a fascinating example of cell differentiation, in which immotile spermatids undergo a rapid and dramatic transition to become mature, motile sperm. Because the sperm nucleus is transcriptionally silent, this transition does not involve transcriptional changes. Although Caenorhabditis elegans is a leading model for studies of sperm activation, the mechanisms by which signaling pathways induce this transformation remain poorly characterized. Here we show that a conserved transmembrane zinc transporter, ZIPT-7.1, regulates the induction of sperm activation in Caenorhabditis nematodes. The zipt-7.1 mutant hermaphrodites cannot self-fertilize, and males reproduce poorly, because mutant spermatids are defective in responding ...


Integration Of Complementary And Alternative Medicine Into The Healthcare System In The United States, Nikki Lu 2018 University of Washington – Tacoma

Integration Of Complementary And Alternative Medicine Into The Healthcare System In The United States, Nikki Lu

Global Honors Theses

Chronic diseases are a prevalent issue around the world and chronic diseases are hard to prevent due to various systemic factors in the healthcare system. This paper mainly focused on socioeconomic issues and highlighted a few systemic factors in the US healthcare system. These factors have created various health disparities, inequities among socially constructed groups, and financial expenditures in the US healthcare system. Socioeconomic factors significantly impact the health and healthcare among socially constructed groups. Additionally, in this paper there are current approaches in addressing these healthcare factors such as social determinants of health and precision medicine as well as ...


Genes Associated With Mandibular Prognathism In The Chinese Population, Jacqueline Payne, Marie Tolarova M.D., Ph.D., D.Sc. 2018 University of the Pacific Dugoni Dental School

Genes Associated With Mandibular Prognathism In The Chinese Population, Jacqueline Payne, Marie Tolarova M.D., Ph.D., D.Sc.

Excellence Day

Mandibular prognathism (MP) is the relationship of the mandible anteriorly positioned in relation to the cranial base. The prevalence of MP in Asians is estimated to be 15%, whereas American and European descent exhibit a 5% prevalence. Orthodontic treatment is lengthy and challenging, and severe cases require surgical intervention. However, when a treatment is planned well, the outcomes are predominantly successful. It has been known that genetics are involved in the etiology of prognathism and that greater genetic contribution corresponds to greater challenges to treatment. Thus, there is a desire to determine genes involved in the etiology of prognathism.


Banning Abortion In Cases Of Down Syndrome: Important Lessons For Advances In Genetic Diagnosis, Rebecca Reingold, Lawrence O. Gostin 2018 Georgetown University Law Center

Banning Abortion In Cases Of Down Syndrome: Important Lessons For Advances In Genetic Diagnosis, Rebecca Reingold, Lawrence O. Gostin

Georgetown Law Faculty Publications and Other Works

In December 2017, Ohio passed into law legislation that prohibited physicians from performing abortions if the pregnant woman’s decision was influenced by her belief that the fetus has Down syndrome. Physicians who perform abortions in these cases would face fourth-degree felony charges and revocation of their medical license. No other state bans abortion specifically for Down syndrome, but several ban abortions in cases of genetic diseases. Lower courts have struck down most such laws, holding they violate the constitutional rights of women. In February 2018, a federal district court judge blocked enforcement of Ohio’s law pending a final ...


Insurance Coverage Policies For Pharmacogenomic And Multi-Gene Testing For Cancer, Christine Y. Lu, Stephanie Loomer, Rachel Ceccarelli, Kathleen M. Mazor, James Sabin, Ellen Wright Clayton, Geoffrey S. Ginsburg, Ann Chen Wu 2018 Harvard Medical School

Insurance Coverage Policies For Pharmacogenomic And Multi-Gene Testing For Cancer, Christine Y. Lu, Stephanie Loomer, Rachel Ceccarelli, Kathleen M. Mazor, James Sabin, Ellen Wright Clayton, Geoffrey S. Ginsburg, Ann Chen Wu

Open Access Publications by UMMS Authors

Insurance coverage policies are a major determinant of patient access to genomic tests. The objective of this study was to examine differences in coverage policies for guideline-recommended pharmacogenomic tests that inform cancer treatment. We analyzed coverage policies from eight Medicare contractors and 10 private payers for 23 biomarkers (e.g., HER2 and EGFR) and multi-gene tests. We extracted policy coverage and criteria, prior authorization requirements, and an evidence basis for coverage. We reviewed professional society guidelines and their recommendations for use of pharmacogenomic tests. Coverage for KRAS, EGFR, and BRAF tests were common across Medicare contractors and private payers, but ...


The State Of The Translational Chaperone Icd-1 During Apoptosis In Caenorhabditis Elegans, Kyle Cicalese 2018 James Madison University

The State Of The Translational Chaperone Icd-1 During Apoptosis In Caenorhabditis Elegans, Kyle Cicalese

Senior Honors Projects, 2010-2019

The unfolded protein response (UPR) is a signal transduction cascade that mitigates low levels of misfolded protein stress in the endoplasmic reticulum (ER) in an effort to save the affected cell, while prolonged and/or acute ER stress leads to UPR-initiated apoptosis (programmed cell death). One putative step driving apoptosis is the cleavage of chaperones, proteins tasked to help misfolded proteins refold, by caspases, proteases essential to the execution of apoptosis. We are studying the nascent polypeptide-associated complex (NAC), a heterodimeric chaperone complex essential for viability, to determine if its beta subunit is cleaved by caspases during apoptosis to prevent ...


Surfactant Deficiency Syndrome In An Infant With A C-Terminal Frame Shift In Abca3: A Case Report, Nour Akil, Anthony J Fischer 2018 University of Iowa

Surfactant Deficiency Syndrome In An Infant With A C-Terminal Frame Shift In Abca3: A Case Report, Nour Akil, Anthony J Fischer

Stead Family Department of Pediatrics Publications

Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease. ABCA3 transports phospholipids into the lamellar bodies of type II alveolar cells, a critical step in alveolar surfactant production. We report a term infant with ABCA3 surfactant deficiency syndrome with the E292V (c.875A>T; p.Glu292Val) mutation in trans with a novel C-terminal frame shift mutation (c.4938delC; p.Met1647fs). This mutation removes the final 58 amino acids and substitutes 33 incorrect amino acids. The frame shift spares membrane spanning and nucleotide binding domains, but disrupts a highly conserved C-terminal domain ...


Dystrophic Calcifications Point The Way-Unusual And Early Diagnostic Clue Of Conradi-Hünermann-Happle Syndrome, Kenneth Yu, Alexander T Reid, Stephanie J T Chen, Rajiv M Patel, Steven M Donn, Johann E Gudjonsson, Lori Lowe 2018 University of Iowa

Dystrophic Calcifications Point The Way-Unusual And Early Diagnostic Clue Of Conradi-Hünermann-Happle Syndrome, Kenneth Yu, Alexander T Reid, Stephanie J T Chen, Rajiv M Patel, Steven M Donn, Johann E Gudjonsson, Lori Lowe

Stead Family Department of Pediatrics Publications

No abstract provided.


Effect Of Trinucleotide Repeats In The Huntington's Gene On Intelligence, Jessica K Lee, Amy Conrad, Eric Epping, Kathy Mathews, Vincent Magnotta, Jeffrey D Dawson, Peg Nopoulos 2018 University of Iowa

Effect Of Trinucleotide Repeats In The Huntington's Gene On Intelligence, Jessica K Lee, Amy Conrad, Eric Epping, Kathy Mathews, Vincent Magnotta, Jeffrey D Dawson, Peg Nopoulos

Stead Family Department of Pediatrics Publications

BACKGROUND: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD. We previously reported that CAG repeats in the normal range had a direct and beneficial effect on brain development with higher repeats being associated with higher cognitive function. The current study now expands this line of inquiry to evaluate the effects of CAG repeat throughout the entire spectrum of repeats from 15 to 58.

METHODS: We evaluated brain function in children ages 6-18 years old. DNA samples were processed ...


Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace 2018 The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences

Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic ...


Tumor Immunotherapy: Mechanisms Of Acquired Resistance And Characterization Of Immune Related Toxicities, Ashvin Jaiswal 2018 The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences

Tumor Immunotherapy: Mechanisms Of Acquired Resistance And Characterization Of Immune Related Toxicities, Ashvin Jaiswal

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Tumor immunotherapy has shown very promising clinical benefit across an array of cancers; however, two major challenges remain unresolved in the field. First, many patients do not respond to therapy at all or relapse after a period of remission. Second, there are often dose-limiting immune related adverse effects associated with immunomodulation.

In order to understand the mechanisms employed by tumors to evade immunotherapeutic responses, we established a murine model of melanoma designed to elucidate the molecular mechanisms underlying immunotherapy resistance. Through multiple in vivo passages, we selected a B16 melanoma tumor line that evolved complete resistance to combination blockade of ...


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