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Personality Disorders And Epigenetics, Julie Zaccagnino 2017 Germanna Community College

Personality Disorders And Epigenetics, Julie Zaccagnino

Student Writing

Personality Disorders are characterized by chronic and pervasive maladaptive patterns which cause emotional distress to the individual, his/her relationships, and society. The purpose of analysis is to understand the causes of personality disorders. Genetic influence on personality is not a simple cause-and-effect. Several genes have been identified to be associated with personality traits but not cause personality traits. Personality disorders have been also associated with childhood trauma. Evidence in research has shown that childhood maltreatment is marked by DNA methylation of genes which promote glucocorticoid receptors in the synapses of the hippocampus and as well as serotonergic pathways. The ...


Targeted Aav5-Smad7 Gene Therapy Inhibits Corneal Scarring In Vivo, Suneel Gupta, Jason T. Rodier, Ajay Sharma, Elizabeth A. Giuliano, Prashant R. Sinha, Nathan P. Hesemann, Arkasubhra Ghosh, Rajiv R. Mohan 2017 Harry S. Truman Memorial Veterans' Hospital

Targeted Aav5-Smad7 Gene Therapy Inhibits Corneal Scarring In Vivo, Suneel Gupta, Jason T. Rodier, Ajay Sharma, Elizabeth A. Giuliano, Prashant R. Sinha, Nathan P. Hesemann, Arkasubhra Ghosh, Rajiv R. Mohan

Pharmacy Faculty Articles and Research

Corneal scarring is due to aberrant activity of the transforming growth factor β (TGFβ) signaling pathway following traumatic, mechanical, infectious, or surgical injury. Altered TGFβ signaling cascade leads to downstream Smad (Suppressor of mothers against decapentaplegic) protein-mediated signaling events that regulate expression of extracellular matrix and myogenic proteins. These events lead to transdifferentiation of keratocytes into myofibroblasts through fibroblasts and often results in permanent corneal scarring. Hence, therapeutic targets that reduce transdifferentiation of fibroblasts into myofibroblasts may provide a clinically relevant approach to treat corneal fibrosis and improve long-term visual outcomes. Smad7 protein regulates the functional effects of TGFβ signaling ...


The Battle Against Malaria: A Teachable Moment, Randy K. Schwartz 2017 Schoolcraft College

The Battle Against Malaria: A Teachable Moment, Randy K. Schwartz

Journal of Humanistic Mathematics

Malaria has been humanity’s worst public health problem throughout recorded history. Mathematical methods are needed to understand which factors are relevant to the disease and to develop counter-measures against it. This article and the accompanying exercises provide examples of those methods for use in lower- or upper-level courses dealing with probability, statistics, or population modeling. These can be used to illustrate such concepts as correlation, causation, conditional probability, and independence. The article explains how the apparent link between sickle cell trait and resistance to malaria was first verified in Uganda using the chi-squared probability distribution. It goes on to ...


Genome Analysis Of Clostridium Difficile Pcr Ribotype 014 Lineage In Australian Pigs And Humans Reveals A Diverse Genetic Repertoire And Signatures Of Long-Range Interspecies Transmission, Daniel R. Knight, Michael M. Squire, Deirdre A. Collins, Thomas V. Riley 2017 Edith Cowan University

Genome Analysis Of Clostridium Difficile Pcr Ribotype 014 Lineage In Australian Pigs And Humans Reveals A Diverse Genetic Repertoire And Signatures Of Long-Range Interspecies Transmission, Daniel R. Knight, Michael M. Squire, Deirdre A. Collins, Thomas V. Riley

ECU Publications Post 2013

Clostridium difficile PCR ribotype (RT) 014 is well-established in both human and porcine populations in Australia, raising the possibility that C. difficile infection (CDI) may have a zoonotic or foodborne etiology. Here, whole genome sequencing and high-resolution core genome phylogenetics were performed on a contemporaneous collection of 40 Australian RT014 isolates of human and porcine origin. Phylogenies based on MLST (7 loci, STs 2, 13, and 49) and core orthologous genes (1260 loci) showed clustering of human and porcine strains indicative of very recent shared ancestry. Core genome single nucleotide variant (SNV) analysis found 42% of human strains showed a ...


An Rnai Screen To Identify Components Of A Polyamine Transport System, Adam J. Foley 2017 University of Central Florida

An Rnai Screen To Identify Components Of A Polyamine Transport System, Adam J. Foley

Honors in the Major Theses

Polyamines, specifically putrescine, spermidine, and spermine, are small cationic molecules found in all organisms. Cells can biosynthetically make these molecules, or alternatively, they can be transported from the extracellular environment. Malignant cells have been shown to require relatively high amounts of polyamines. There is a chemotherapeutic agent, DFMO, used to block the biosynthesis of polyamines. Many malignant cells can circumvent DFMO therapy by activating their transport system. A potential solution is to simultaneously block biosynthesis and transport of polyamines. However, little is known about the polyamine transport system in higher eukaryotes.

This thesis aims to add to the basic biological ...


Reliability Issues In Imaging Genetics, Annika Eriksson 2017 Oregon Health & Science University

Reliability Issues In Imaging Genetics, Annika Eriksson

Scholar Archive

No abstract provided.


Meta Analysis Of Human Alzgene Database: Benefits And Limitations Of Using C. Elegans For The Study Of Alzheimer's Disease And Co-Morbid Conditions, Behrad Vahdati Nia, Christine Kang, Michelle G. Tran, Deborah Lee, Shin Murakami 2017 Touro University California

Meta Analysis Of Human Alzgene Database: Benefits And Limitations Of Using C. Elegans For The Study Of Alzheimer's Disease And Co-Morbid Conditions, Behrad Vahdati Nia, Christine Kang, Michelle G. Tran, Deborah Lee, Shin Murakami

College of Osteopathic Medicine (TUC) Publications and Research

Human genome-wide association studies (GWAS) and linkage studies have identified 695 genes associated with Alzheimer's disease (AD), the vast majority of which are associated with late-onset AD. Although orthologs of these AD genes have been studied in several model species, orthologs in the nematode, Caenorhabditis elegans, remain incompletely identified, with orthologs to only 17 AD-related genes identified in the C. elegans database, WormBase. Therefore, we performed a comprehensive search for additional C. elegans orthologs of AD genes using well-established programs, including OrthoList, which utilizes four ontology prediction programs. We also validated 680 of the AD genes as a unique ...


Genomic Landscape Of Colorectal Cancer In Japan: Clinical Implications Of Comprehensive Genomic Sequencing For Precision Medicine, Masayuki Nagahashi, Toshifumi Wakai, Stephen R. Lyle 2016 Niigata University Graduate School of Medical and Dental Sciences

Genomic Landscape Of Colorectal Cancer In Japan: Clinical Implications Of Comprehensive Genomic Sequencing For Precision Medicine, Masayuki Nagahashi, Toshifumi Wakai, Stephen R. Lyle

Open Access Articles

BACKGROUND: Comprehensive genomic sequencing (CGS) has the potential to revolutionize precision medicine for cancer patients across the globe. However, to date large-scale genomic sequencing of cancer patients has been limited to Western populations. In order to understand possible ethnic and geographic differences and to explore the broader application of CGS to other populations, we sequenced a panel of 415 important cancer genes to characterize clinically actionable genomic driver events in 201 Japanese patients with colorectal cancer (CRC).

METHODS: Using next-generation sequencing methods, we examined all exons of 415 known cancer genes in Japanese CRC patients (n = 201) and evaluated for ...


Environmental Signaling Through The Target Of Rapamycin Complex 1 (Torc1) And The Regulation Of Epigenetic Mechanisms, Jason J. Workman 2016 University of Tennessee Health Science Center

Environmental Signaling Through The Target Of Rapamycin Complex 1 (Torc1) And The Regulation Of Epigenetic Mechanisms, Jason J. Workman

Theses and Dissertations (ETD)

The gene expression profile of a eukaryotic cell is responsive to a variety of extracellular stimuli, including nutrient availability, which allows cells to toggle between anabolism and catabolism based on the favorability of their environment. Much of this information is relayed through signaling complexes, such as the target of rapamycin complex 1 (TORC1), to downstream chromatin modifying enzymes. These enzymes impact the gene regulatory process through altered histone post-translation modifications, changes in chromatin structure, and docking of chromatin regulatory complexes. Yet, despite preliminary studies suggesting that TORC1 affects epigenetic mechanisms, including histone H3 lysine 56 acetylation (H3K56ac), almost nothing is ...


The Emerging Genetics Workforce: A Study Of Physician Geneticists' Professional Lives, Heather Gosnell 2016 University of Kentucky

The Emerging Genetics Workforce: A Study Of Physician Geneticists' Professional Lives, Heather Gosnell

Posters-at-the-Capitol

PURPOSE: The purpose of this study is to explore the current practice and geographic location trends of physicians certified in clinical genetics, clinical biochemical genetics, and medical biochemical genetics during the 2011, 2013, and 2015 certification cycles.

METHODS: Physicians’ personal data was collected from public internet domains including the American Board of Medical Genetics and Genomics (ABMGG) provider database, the CMS National Plan and Provider Enumeration System, publically available professional-biographies, and university affiliations. The search results were cross-referenced for the greatest accuracy. Geographic location data was plotted onto maps.

RESULTS: Approximately 27% (n=69) physicians board-certified in genetics are currently ...


Ataluren Stimulates Ribosomal Selection Of Near-Cognate Trnas To Promote Nonsense Suppression, Bijoyita Roy, Westley J. Friesen, Yuki Tomizawa, John D. Leszyk, Jin Zhuo, Briana Johnson, Jumana Dakka, Christopher R. Trotta, Xiaojiao Xue, Venkateshwar Mutyam, Kim M. Keeling, James A. Mobley, Steven M. Rowe, David M. Bedwell, Ellen M. Welch, Allan Jacobson 2016 University of Massachusetts Medical School

Ataluren Stimulates Ribosomal Selection Of Near-Cognate Trnas To Promote Nonsense Suppression, Bijoyita Roy, Westley J. Friesen, Yuki Tomizawa, John D. Leszyk, Jin Zhuo, Briana Johnson, Jumana Dakka, Christopher R. Trotta, Xiaojiao Xue, Venkateshwar Mutyam, Kim M. Keeling, James A. Mobley, Steven M. Rowe, David M. Bedwell, Ellen M. Welch, Allan Jacobson

Microbiology and Physiological Systems Publications and Presentations

A premature termination codon (PTC) in the ORF of an mRNA generally leads to production of a truncated polypeptide, accelerated degradation of the mRNA, and depression of overall mRNA expression. Accordingly, nonsense mutations cause some of the most severe forms of inherited disorders. The small-molecule drug ataluren promotes therapeutic nonsense suppression and has been thought to mediate the insertion of near-cognate tRNAs at PTCs. However, direct evidence for this activity has been lacking. Here, we expressed multiple nonsense mutation reporters in human cells and yeast and identified the amino acids inserted when a PTC occupies the ribosomal A site in ...


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 ...


Exome-Based Variant Detection In Core Promoters., Yeong C. Kim, Jian Cui, Jiangtao Luo, Fengxia Xiao, Bradley Downs, San Ming Wang 2016 University of Nebraska Medical Center

Exome-Based Variant Detection In Core Promoters., Yeong C. Kim, Jian Cui, Jiangtao Luo, Fengxia Xiao, Bradley Downs, San Ming Wang

Journal Articles: Genetics, Cell Biology & Anatomy

Core promoter controls the initiation of transcription. Core promoter sequence change can disrupt transcriptional regulation, lead to impairment of gene expression and ultimately diseases. Therefore, comprehensive characterization of core promoters is essential to understand normal and abnormal gene expression in biomedical studies. Here we report the development of EVDC (Exome-based Variant Detection in Core promoters) method for genome-scale analysis of core-promoter sequence variation. This method is based on the fact that exome sequences contain the sequences not only from coding exons but also from non-coding region including core promoters generated by random fragmentation in exome sequencing process. Using exome data ...


Whole Exome Sequencing Links Dental Tumor To An Autosomal-Dominant Mutation In Ano5 Gene Associated With Gnathodiaphyseal Dysplasia And Muscle Dystrophies, T. V. Andreeva, T. V. Tyazhelova, V. N. Rykalina, F. E. Gusev, Andrey Y. Goltsov, O. I. Zolotareva, M. P. Aliseichik, T. A. Borodina, Anastasia P. Grigorenko, Denis Reshetov, E. K. Ginter, S. S. Amelina, R A. Zinchenko, Evgeny I. Rogaev 2016 Russian Academy of Sciences

Whole Exome Sequencing Links Dental Tumor To An Autosomal-Dominant Mutation In Ano5 Gene Associated With Gnathodiaphyseal Dysplasia And Muscle Dystrophies, T. V. Andreeva, T. V. Tyazhelova, V. N. Rykalina, F. E. Gusev, Andrey Y. Goltsov, O. I. Zolotareva, M. P. Aliseichik, T. A. Borodina, Anastasia P. Grigorenko, Denis Reshetov, E. K. Ginter, S. S. Amelina, R A. Zinchenko, Evgeny I. Rogaev

Open Access Articles

Tumors of the jaws may represent different human disorders and frequently associate with pathologic bone fractures. In this report, we analyzed two affected siblings from a family of Russian origin, with a history of dental tumors of the jaws, in correspondence to original clinical diagnosis of cementoma consistent with gigantiform cementoma (GC, OMIM: 137575). Whole exome sequencing revealed the heterozygous missense mutation c.1067G > A (p.Cys356Tyr) in ANO5 gene in these patients. To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene ...


Hiv Vaccines: Progress, Limitations And A Crispr/Cas9 Vaccine, Omar A. Garcia Martinez 2016 Augustana College, Rock Island Illinois

Hiv Vaccines: Progress, Limitations And A Crispr/Cas9 Vaccine, Omar A. Garcia Martinez

Biology: Student Scholarship & Creative Works

ABSTRACT: The HIV-1 pandemic continues to thrive due to ineffective HIV-1 vaccines. Historically, the world’s most infectious diseases, such as polio and smallpox, have been eradicated or have come close to eradication due to the advent of effective vaccines. Highly active antiretroviral therapy is able to delay the onset of AIDS but can neither rid the body of HIV-1 proviral DNA nor prevent further transmission. A prophylactic vaccine that prevents the various mechanisms HIV-1 has to evade and attack our immune system is needed to end the HIV-1 pandemic. Recent advances in engineered nuclease systems, like the CRISPR/Cas9 ...


No Difference In Health Related Quality Of Life Between Therapeutic Options For Type 1 Gaucher Disease, Victoria Wagner 2016 The University of Texas Graduate School of Biomedical Sciences at Houston

No Difference In Health Related Quality Of Life Between Therapeutic Options For Type 1 Gaucher Disease, Victoria Wagner

UT GSBS Dissertations and Theses (Open Access)

Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT). ERT reduces symptoms and increases health­related quality of life (HRQoL) in people with this condition. In 2014, oral substrate reduction therapy (SRT) was approved for type 1 GD treatment. Although both therapies alleviate disease symptoms, effects of SRT on HRQoL and preferences for therapy are not well established. Electronic surveys were administered to adults with type 1 GD. HRQoL was scored with the Short Form­36 Version 2 ® Health Survey and descriptive statistics were used ...


Ethnic Identity And Teratogenic Risk Perceptions, Katie M. Chan 2016 The University of Texas Graduate School of Biomedical Sciences at Houston

Ethnic Identity And Teratogenic Risk Perceptions, Katie M. Chan

UT GSBS Dissertations and Theses (Open Access)

Elevated perceptions of teratogenic risk can cause anxiety and confusion among pregnant women. To assess whether ethnic identity and demographic factors can influence teratogenic risk perceptions, 194 pregnant women in Houston were surveyed using the Multigroup Ethnic Identity Measure (MEIM) and visual analog scales to quantify perceptions of teratogenic risk for common exposures during pregnancy. Overall, participants estimated an elevated baseline risk of 25% for birth defects among the general population. In addition, participants overestimated birth defect risks for specific exposures, such as alcohol and marijuana. Based on the MEIM scores, ethnic identity was not significantly associated with teratogenic risk ...


Factors Influencing Uptake Of Risk-Reducing Salpingo-Oophorectomy By Brca1 And Brca2 Mutation Carriers, Victoria E. Breen 2016 The University of Texas Graduate School of Biomedical Sciences at Houston

Factors Influencing Uptake Of Risk-Reducing Salpingo-Oophorectomy By Brca1 And Brca2 Mutation Carriers, Victoria E. Breen

UT GSBS Dissertations and Theses (Open Access)

Germline mutations in the BRCA1 and BRCA2 genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo-oophorectomy (RRSO) after age 35; however, not all women elect this option. The purpose of this study was to prospectively survey women with BRCA mutations currently undergoing ovarian cancer screening about their intention to have an RRSO and the various factors influencing their decision. Of the 26 women who completed our survey, 26 (100%, CI: 86.8-100) plan to undergo an RRSO in their lifetime. The average woman ...


The Carboxyl Terminal Mutational Hotspot Of The Ciliary Disease Protein Rpgrorf15 (Retinitis Pigmentosa Gtpase Regulator) Is Glutamylated In Vivo, Kollu N. Rao, Manisha Anand, Hemant Khanna 2016 University of Massachusetts Medical School

The Carboxyl Terminal Mutational Hotspot Of The Ciliary Disease Protein Rpgrorf15 (Retinitis Pigmentosa Gtpase Regulator) Is Glutamylated In Vivo, Kollu N. Rao, Manisha Anand, Hemant Khanna

Open Access Articles

Mutations inRPGR(ORF15)(retinitis pigmentosa GTPase regulator) are a major cause of inherited retinal degenerative diseases. RPGR(ORF15)(1152 residues) is a ciliary protein involved in regulating the composition and function of photoreceptor cilia. The mutational hotspot in RPGR(ORF15)is an unusual C-terminal domain encoded by exon ORF15, which is rich in polyglutamates and glycine residues (Glu-Gly domain) followed by a short stretch of basic amino acid residues (RPGR(C2)domain; residues 1072-1152). However, the properties of the ORF15-encoded domain and its involvement in the pathogenesis of the disease are unclear. Here we show that RPGR(ORF15)is glutamylated ...


Gene Expression Profiling In An Alzheimer's Disease Mouse Model, Matthew R. Dalton 2016 Liberty University

Gene Expression Profiling In An Alzheimer's Disease Mouse Model, Matthew R. Dalton

Senior Honors Theses

Explaining precisely how Alzheimer’s disease (AD)—the world’s most common form of dementia—materializes in the human brain has proven to be one of the most elusive ends in modern medicine. Progressive memory loss, neurodegeneration, and the presence of abnormal protein aggregates of amyloid-beta (Aβ) and neurofibrillary tangles (NFT) characterize this disease. Genome sequencing provides researchers with the ability to better identify disease-related changes in gene expression, some of which may play a role in the initiation and progression toward the AD-like state. Intimate interactions between tissues have been observed in many diseases, particularly between the brain and ...


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