Open Access. Powered by Scholars. Published by Universities.®

Medical Genetics Commons

Open Access. Powered by Scholars. Published by Universities.®

662 Full-Text Articles 2264 Authors 81312 Downloads 47 Institutions

All Articles in Medical Genetics

Faceted Search

662 full-text articles. Page 1 of 21.

Social Issues Of Genome Innovation And Intellectual Property, Elaine Alma Draper 2016 University of New Hampshire

Social Issues Of Genome Innovation And Intellectual Property, Elaine Alma Draper

RISK: Health, Safety & Environment

Dr. Draper's focus is the use of personal information derived from genome research. She identifies several potential problems, including access to and control of genetic information, employment discrimination and social stratification. She also recommends possible solutions.


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 ...


[Review Of] The Genetic Frontier: Ethics, Law, And Policy (Mark S. Frankel & Albert Teich Eds., American Association For The Advancement Of Science 1994), Suzanne A. Sprunger 2016 University of New Hampshire

[Review Of] The Genetic Frontier: Ethics, Law, And Policy (Mark S. Frankel & Albert Teich Eds., American Association For The Advancement Of Science 1994), Suzanne A. Sprunger

RISK: Health, Safety & Environment

Review of: The Genetic Frontier: Ethics, Law, and Policy (Mark S. Frankel & Albert Teich eds., American Association for the Advancement of Science 1994). Acknowledgments, appendix, contributors, figures, index, introduction, notes, references, tables. LC 93-37230, ISBN 0-87168-526-4. [260 pp. Paper $22.95. 1333 H St., NW, Washington DC 20005.]


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 ...


Oxalate And Phytate Of Soy Foods, Ismail A. Al-Wahsh, Harry T. Horner, Reid G. Palmer, Manju B. Reddy, Linda K. Massey 2016 Washington State University

Oxalate And Phytate Of Soy Foods, Ismail A. Al-Wahsh, Harry T. Horner, Reid G. Palmer, Manju B. Reddy, Linda K. Massey

Manju B. Reddy

The consumption of foods made from soybeans is increasing because of their desirable nutritional value. However, some soy foods contain high concentrations of oxalate and/or phytate. Oxalate is a component of calcium oxalate kidney stones, whereas phytate is an inhibitor of calcium kidney stone formation. Thirty tested commercial soy foods exhibited ranges of 0.02−2.06 mg oxalate/g and 0.80−18.79 mg phytate/g. Commercial soy foods contained 2−58 mg of total oxalate per serving and 76−528 mg phytate per serving. Eighteen of 19 tofu brands and two soymilk brands contained less than ...


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 ...


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 ...


Intimin Likely Used To Cause Disease During Competition With Commensal Escherichia Coli, Dominique J. Richburg 2016 Liberty University

Intimin Likely Used To Cause Disease During Competition With Commensal Escherichia Coli, Dominique J. Richburg

Senior Honors Theses

The intimin gene in the Locus of Enterocyte Effacement (LEE) island of pathogenicity is the primary attachment mechanism in Citrobacter rodentium. Intimin is a bacterial adhesin (protein) that attaches to obtain a niche/nutrient and thrive within the intestine. Intimin was deleted within C. rodentium to study colonization and pathogenesis in the murine intestine. Additionally, C. rodentium is an attaching/effacing pathogen, and a useful murine model in understanding Enterohemorrhagic Escherichia coli (EHEC) infection in humans. E. coli and C. rodentium cause gastroenteritis in humans and mice, respectively. C. rodentium is a murine pathogen commonly used to model gastrointestinal disease ...


Genetic Link Between Renal Birth Defects And Congenital Heart Disease, Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour 2016 University of Massachusetts Medical School

Genetic Link Between Renal Birth Defects And Congenital Heart Disease, Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour

Program in Molecular Medicine Publications and Presentations

Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a ...


Identification Of Potential Drug Targets In Cancer Signaling Pathways Using Stochastic Logical Models, Peican Zhu, Hamidreza Montazeri Aliabadi, Hasan Uludag, Jie Han 2016 Northwestern Polytechnical University

Identification Of Potential Drug Targets In Cancer Signaling Pathways Using Stochastic Logical Models, Peican Zhu, Hamidreza Montazeri Aliabadi, Hasan Uludag, Jie Han

Pharmacy Faculty Articles and Research

The investigation of vulnerable components in a signaling pathway can contribute to development of drug therapy addressing aberrations in that pathway. Here, an original signaling pathway is derived from the published literature on breast cancer models. New stochastic logical models are then developed to analyze the vulnerability of the components in multiple signalling sub-pathways involved in this signaling cascade. The computational results are consistent with the experimental results, where the selected proteins were silenced using specific siRNAs and the viability of the cells were analyzed 72 hours after silencing. The genes elF4E and NFkB are found to have nearly no ...


Familial Cancer Syndromes, Beverly N. Hay 2016 University of Massachusetts Medical School

Familial Cancer Syndromes, Beverly N. Hay

Cancer Concepts: A Guidebook for the Non-Oncologist

While the majority of cancers are not inherited, there are a number of well described collections of cancers that occur within families. These cancer syndromes were initially identified based on observation of the family history and subsequently the molecular mechanisms have been elucidated. This chapter in Cancer Concepts: A Guidebook for the Non-Oncologist is intended to allow the reader to recognize when a pattern of cancers occurs in an individual or their family, and to generate an investigation into potential cancer syndromes. With the rapidly expanding understanding of the molecular basis of cancers at the cellular and constitutional levels, appropriate ...


Raav2/5 Gene-Targeting To Rods: Dose-Dependent Efficiency And Complications Associated With Different Promoters, William Beltran, Sanford Boye, Shannon Boye, Vince Chiodo, Alfred Lewin, William Hauswirth, Gustavo Aguirre 2016 University of Pennsylvania

Raav2/5 Gene-Targeting To Rods: Dose-Dependent Efficiency And Complications Associated With Different Promoters, William Beltran, Sanford Boye, Shannon Boye, Vince Chiodo, Alfred Lewin, William Hauswirth, Gustavo Aguirre

Gustavo D. Aguirre, VMD, PhD

A prerequisite for using corrective gene therapy to treat humans with inherited retinal degenerative diseases that primarily affect rods is to develop viral vectors that target specifically this population of photoreceptors. The delivery of a viral vector with photoreceptor tropism coupled with a rod-specific promoter is likely to be the safest and most efficient approach to target expression of the therapeutic gene to rods. Three promoters that included a fragment of the proximal mouse opsin promoter (mOP), the human G-protein-coupled receptor protein kinase 1 promoter (hGRK1), or the cytomegalovirus immediate early enhancer combined with the chicken β actin proximal promoter ...


Exonic Sine Insertion In Stk38l Causes Canine Early Retinal Degeneration (Erd), Orly Goldstein, Anna Kukekova, Gustavo Aguirre, Gregory Acland 2016 University of Pennsylvania

Exonic Sine Insertion In Stk38l Causes Canine Early Retinal Degeneration (Erd), Orly Goldstein, Anna Kukekova, Gustavo Aguirre, Gregory Acland

Gustavo D. Aguirre, VMD, PhD

Fine mapping followed by candidate gene analysis of erd — a canine hereditary retinal degeneration characterized by aberrant photoreceptor development — established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites for S100B and Mob proteins, part of the protein kinase domain, and a Thr-75 residue critical for autophosphorylation. Although known to have roles in neuronal cell function, the STK38L pathway has not previously been implicated in normal or ...


Identical Mutation In A Novel Retinal Gene Causes Progressive Rod-Cone Degeneration In Dogs And Retinitis Pigmentosa In Humans, Barbara Zangerl, Orly Goldstein, Alisdair Philip, Sarah Lindauer, Susan Pearce-Kelling, Roberts Mullins, Alexander Graphodatsky, Daniel Ripoll, Jeanette Felix, Edwin Stone, Gregory Acland, Gustavo Aguirre 2016 University of Pennsylvania

Identical Mutation In A Novel Retinal Gene Causes Progressive Rod-Cone Degeneration In Dogs And Retinitis Pigmentosa In Humans, Barbara Zangerl, Orly Goldstein, Alisdair Philip, Sarah Lindauer, Susan Pearce-Kelling, Roberts Mullins, Alexander Graphodatsky, Daniel Ripoll, Jeanette Felix, Edwin Stone, Gregory Acland, Gustavo Aguirre

Gustavo D. Aguirre, VMD, PhD

Progressive rod–cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the disease-relevant interval was reduced to a 106-kb region on CFA9, and a common phenotype-specific haplotype was identified in all affected dogs from several different breeds and breed varieties. Screening of a canine retinal EST library identified partial cDNAs for novel candidate genes in the disease-relevant interval. The complete cDNA of one of these, PRCD, was cloned in dog, human, and mouse. The gene codes for a 54-amino-acid (aa) protein in dog and human ...


Modeling The Structural Consequences Of Best1 Missense Mutations, Karina Guziewicz, Gustavo Aguirre, Barbara Zangerl 2016 University of Pennsylvania

Modeling The Structural Consequences Of Best1 Missense Mutations, Karina Guziewicz, Gustavo Aguirre, Barbara Zangerl

Gustavo D. Aguirre, VMD, PhD

Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disease phenotypes, broadly termed as bestrophinopathies. A spontaneous animal model recapitulating BEST1-related phenotypes, canine multifocal retinopathy (cmr), is caused by mutations in the canine gene ortholog (cBEST1). We have recently characterized molecular consequences of cmr, demonstrating defective protein trafficking as a result of G161D (cmr2) mutation. To further investigate the pathological effects of BEST1 missense mutations, canine and human peptide fragments derived from the protein sequence have been studied ...


Digital Commons powered by bepress