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Genetic Phenomena Commons

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Dznep Inhibits H3k27me3 Deposition And Delays Retinal Degeneration In The Rd1 Mice, Shijie Zheng, Lirong Xiao, Yu Liu, Yujiao Wang, Lin Cheng, Junjun Zhang, Naihong Yan, Danian Chen 2018 Sichuan University

Dznep Inhibits H3k27me3 Deposition And Delays Retinal Degeneration In The Rd1 Mice, Shijie Zheng, Lirong Xiao, Yu Liu, Yujiao Wang, Lin Cheng, Junjun Zhang, Naihong Yan, Danian Chen

Open Access Articles

Retinitis pigmentosa (RP) is a group of inherited retinal degenerative diseases causing progressive loss of photoreceptors. Numerous gene mutations are identified to be related with RP, but epigenetic modifications may also be involved in the pathogenesis. Previous studies suggested that both DNA methylation and histone acetylation regulate photoreceptor cell death in RP mouse models. However, the role of histone methylation in RP has never been investigated. In this study, we found that trimethylation of several lysine sites of histone H3, including lysine 27 (H3K27me3), increased in the retinas of rd1 mice. Histone methylation inhibitor DZNep significantly reduced the calpain activity ...


Genome-Wide Association Study Of Offspring Birth Weight In 86 577 Women Identifies Five Novel Loci And Highlights Maternal Genetic Effects That Are Independent Of Fetal Genetics, Robin N. Beaumont, Nicole M. Warrington, Alana Cavadino, Jessica Tyrrell, Michael Nodzenski, Momoko Horikoshi, Frank Geller, Ronny Myhre, Rebecca C. Richmond, Lavinia Paternoster, Jonathan P. Bradfield, Eskil Kreiner-Møller, Ville Huikari, Sarah Metrustry, Kathryn L. Lunetta, Jodie N. Painter, Jouke-Jan Hottenga, Catherine Allard, Sheila J. Barton, Ana Espinosa, Julie A. Marsh, Catherine Potter, Ge Zhang, Wei Ang, Diane J. Berry, Luigi Bouchard, Shikta Das, Hakon Hakonarson, Jani Heikkinen, Øyvind Helgeland, Berthold Hocher, Albert Hofman, Hazel M. Inskip, Samuel E. Jones, Manolis Kogevinas, Penelope A. Lind, Letizia Marullo, Sarah E. Medland, Anna Murray, Jeffrey C. Murray, Pål R. Njølstad, Ellen A. Nohr, Christoph Reichetzeder, Susan M. Ring, Katherine S. Ruth, Loreto Santa-Marina, Denise M. Scholtens, Sylvain Sebert, Verena Sengpiel, Marcus A. Tuke, Marc Vaudel, Michael N. Weedon, Gonneke Willemsen, Andrew R. Wood, Hanieh Yaghootkar, Louis J. Muglia, Meike Bartels, Caroline L. Relton, Craig E. Pennell, Leda Chatzi, Xavier Estivill, John W. Holloway, Dorret I. Boomsma, Grant W. Montgomery, Joanne M. Murabito, Tim D. Spector, Christine Power, Marjo-Ritta Järvelin, Hans Bisgaard, Struan F A Grant, Thorkild I A Sørensen, Vincent W. Jaddoe, Bo Jacobsson, Mads Melbye, Mark I. McCarthy, Andrew T. Hattersley, M Geoffery Hayes, Timothy M. Frayling, Marie-France Hivert, Janine F. Felix, Elina Hyppönen, William L. Lowe, David M. Evans, Debbie A. Lawlor, Bjarke Feenstra, Rachel M. Freathy 2018 University of Iowa

Genome-Wide Association Study Of Offspring Birth Weight In 86 577 Women Identifies Five Novel Loci And Highlights Maternal Genetic Effects That Are Independent Of Fetal Genetics, Robin N. Beaumont, Nicole M. Warrington, Alana Cavadino, Jessica Tyrrell, Michael Nodzenski, Momoko Horikoshi, Frank Geller, Ronny Myhre, Rebecca C. Richmond, Lavinia Paternoster, Jonathan P. Bradfield, Eskil Kreiner-Møller, Ville Huikari, Sarah Metrustry, Kathryn L. Lunetta, Jodie N. Painter, Jouke-Jan Hottenga, Catherine Allard, Sheila J. Barton, Ana Espinosa, Julie A. Marsh, Catherine Potter, Ge Zhang, Wei Ang, Diane J. Berry, Luigi Bouchard, Shikta Das, Hakon Hakonarson, Jani Heikkinen, Øyvind Helgeland, Berthold Hocher, Albert Hofman, Hazel M. Inskip, Samuel E. Jones, Manolis Kogevinas, Penelope A. Lind, Letizia Marullo, Sarah E. Medland, Anna Murray, Jeffrey C. Murray, Pål R. Njølstad, Ellen A. Nohr, Christoph Reichetzeder, Susan M. Ring, Katherine S. Ruth, Loreto Santa-Marina, Denise M. Scholtens, Sylvain Sebert, Verena Sengpiel, Marcus A. Tuke, Marc Vaudel, Michael N. Weedon, Gonneke Willemsen, Andrew R. Wood, Hanieh Yaghootkar, Louis J. Muglia, Meike Bartels, Caroline L. Relton, Craig E. Pennell, Leda Chatzi, Xavier Estivill, John W. Holloway, Dorret I. Boomsma, Grant W. Montgomery, Joanne M. Murabito, Tim D. Spector, Christine Power, Marjo-Ritta Järvelin, Hans Bisgaard, Struan F A Grant, Thorkild I A Sørensen, Vincent W. Jaddoe, Bo Jacobsson, Mads Melbye, Mark I. Mccarthy, Andrew T. Hattersley, M Geoffery Hayes, Timothy M. Frayling, Marie-France Hivert, Janine F. Felix, Elina Hyppönen, William L. Lowe, David M. Evans, Debbie A. Lawlor, Bjarke Feenstra, Rachel M. Freathy

Stead Family Department of Pediatrics Publications

Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B ...


A Large-Scale Rna Interference Screen Identifies Genes That Regulate Autophagy At Different Stages, Sujuan Guo, Kevin J. Pridham, Ching-Man A. Virbasius, Bin He, Liqing Zhang, Hanne Varmark, Michael R. Green, Zhi Sheng 2018 Virginia Tech Carilion Research Institute

A Large-Scale Rna Interference Screen Identifies Genes That Regulate Autophagy At Different Stages, Sujuan Guo, Kevin J. Pridham, Ching-Man A. Virbasius, Bin He, Liqing Zhang, Hanne Varmark, Michael R. Green, Zhi Sheng

Open Access Articles

Dysregulated autophagy is central to the pathogenesis and therapeutic development of cancer. However, how autophagy is regulated in cancer is not well understood and genes that modulate cancer autophagy are not fully defined. To gain more insights into autophagy regulation in cancer, we performed a large-scale RNA interference screen in K562 human chronic myeloid leukemia cells using monodansylcadaverine staining, an autophagy-detecting approach equivalent to immunoblotting of the autophagy marker LC3B or fluorescence microscopy of GFP-LC3B. By coupling monodansylcadaverine staining with fluorescence-activated cell sorting, we successfully isolated autophagic K562 cells where we identified 336 short hairpin RNAs. After candidate validation using ...


Herpes Icp8 Protein Stimulates Homologous Recombination In Human Cells, Melvys Valledor, Richard S. Myers, Paul C. Schiller 2018 University of Massachusetts Medical School

Herpes Icp8 Protein Stimulates Homologous Recombination In Human Cells, Melvys Valledor, Richard S. Myers, Paul C. Schiller

University of Massachusetts Medical School Faculty Publications

Recombineering has transformed functional genomic analysis. Genome modification by recombineering using the phage lambda Red SynExo homologous recombination proteins Beta in Escherichia coli has approached 100% efficiency. While highly efficient in E. coli, recombineering using the Red SynExo in other organisms declines in efficiency roughly correlating with phylogenetic distance from E. coli. SynExo recombinases are common to double-stranded DNA viruses infecting a variety of organisms, including humans. Human Herpes virus Type 1 (HHV1) encodes a SynExo comprised of ICP8 synaptase and UL12 exonuclease. In a previous study, the Herpes SynExo was reconstituted in vitro and shown to catalyze a model ...


Regulation Of Atm And Atr By Smarcal1 And Brg1, Ramesh Sethy, Radhakrishnan Rakesh, Ketki Patne, Vijendra Arya, Tapan Sharma, Dominic T. Haokip, Reshma Kumari, Rohini Muthuswami 2018 Jawaharlal Nehru University

Regulation Of Atm And Atr By Smarcal1 And Brg1, Ramesh Sethy, Radhakrishnan Rakesh, Ketki Patne, Vijendra Arya, Tapan Sharma, Dominic T. Haokip, Reshma Kumari, Rohini Muthuswami

University of Massachusetts Medical School Faculty Publications

The G2/M checkpoint is activated on DNA damage by the ATM and ATR kinases that are regulated by post-translational modifications. In this paper, the transcriptional co-regulation of ATM and ATR by SMARCAL1 and BRG1, both members of the ATP-dependent chromatin remodeling protein family, is described. SMARCAL1 and BRG1 co-localize on the promoters of ATM and ATR; downregulation of SMARCAL1/BRG1 results in transcriptional repression of ATM/ATR and therefore, overriding of the G2/M checkpoint leading to mitotic abnormalities. On doxorubicin-induced DNA damage, SMARCAL1 and BRG1 are upregulated and in turn, upregulate the expression of ATM/ATR. Phosphorylation of ...


A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones 2018 University of Massachusetts Medical School

A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones

Open Access Articles

The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes. We have ...


The Trim-Nhl Protein Nhl-2 Is A Novel Co-Factor Of The Csr-1 And Hrde-1 22g-Rna Pathways, Peter R. Boag, Gregory M. Davis, Shikui Tu, Rhys N. Colson, Joshua W. T. Anderson, Menachem J. Gunzburg, Michelle A. Francisco, Debashish Ray, Tuhin Maity, Monica Z. Wu, Quaid D. Morris, Timothy R. Hughes, Jacqueline A. Wilce, University of Toronto, Zhiping Weng 2018 Monash University

The Trim-Nhl Protein Nhl-2 Is A Novel Co-Factor Of The Csr-1 And Hrde-1 22g-Rna Pathways, Peter R. Boag, Gregory M. Davis, Shikui Tu, Rhys N. Colson, Joshua W. T. Anderson, Menachem J. Gunzburg, Michelle A. Francisco, Debashish Ray, Tuhin Maity, Monica Z. Wu, Quaid D. Morris, Timothy R. Hughes, Jacqueline A. Wilce, University Of Toronto, Zhiping Weng

University of Massachusetts Medical School Faculty Publications

Proper regulation of germline gene expression is essential for fertility and maintaining species integrity. In the C. elegans germline, a diverse repertoire of regulatory pathways promote the expression of endogenous germline genes and limit the expression of deleterious transcripts to maintain genome homeostasis. Here we show that the conserved TRIM-NHL protein, NHL-2, plays an essential role in the C. elegans germline, modulating germline chromatin and meiotic chromosome organization. We uncover a role for NHL-2 as a co-factor in both positively (CSR-1) and negatively (HRDE-1) acting germline 22G-small RNA pathways and the somatic nuclear RNAi pathway. Furthermore, we demonstrate that NHL-2 ...


Prognostic Role Of Elevated Mir-24-3p In Breast Cancer And Its Association With The Metastatic Process, Alireza Khodadadi-Jamayran, Betul Akgol-Oksuz, Yelena Afanasyeva, Adriana Heguy, Marae Thompson, Karina Ray, Ariadna Giro-Perafita, Irma Sanchez, Xifeng Wu, Debu Tripathy, Anne Zeleniuch-Jacquotte, Aristotelis Tsirigos, Francisco J. Esteva 2018 New York University

Prognostic Role Of Elevated Mir-24-3p In Breast Cancer And Its Association With The Metastatic Process, Alireza Khodadadi-Jamayran, Betul Akgol-Oksuz, Yelena Afanasyeva, Adriana Heguy, Marae Thompson, Karina Ray, Ariadna Giro-Perafita, Irma Sanchez, Xifeng Wu, Debu Tripathy, Anne Zeleniuch-Jacquotte, Aristotelis Tsirigos, Francisco J. Esteva

Open Access Articles

MicroRNAs have been shown to play important roles in breast cancer progression and can serve as biomarkers. To assess the prognostic role of a panel of miRNAs in breast cancer, we collected plasma prospectively at the time of initial diagnosis from 1,780 patients with stage I-III breast cancer prior to definitive treatment. We identified plasma from 115 patients who subsequently developed distant metastases and 115 patients without metastatic disease. Both groups were matched by: age at blood collection, year of blood collection, breast cancer subtype, and stage. The median follow up was 3.4 years (range, 1-9 years). We ...


Orbit: A New Paradigm For Genetic Engineering Of Mycobacterial Chromosomes, Kenan C. Murphy, Samantha J. Nelson, Subhalaxmi Nambi, Kadamba Papavinasasundaram, Christina E. Baer, Christopher M. Sassetti 2018 University of Massachusetts Medical School

Orbit: A New Paradigm For Genetic Engineering Of Mycobacterial Chromosomes, Kenan C. Murphy, Samantha J. Nelson, Subhalaxmi Nambi, Kadamba Papavinasasundaram, Christina E. Baer, Christopher M. Sassetti

University of Massachusetts Medical School Faculty Publications

Current methods for genome engineering in mycobacteria rely on relatively inefficient recombination systems that require the laborious construction of a long double-stranded DNA substrate for each desired modification. We combined two efficient recombination systems to produce a versatile method for high-throughput chromosomal engineering that obviates the need for the preparation of double-stranded DNA recombination substrates. A synthetic targeting oligonucleotide is incorporated into the chromosome via homologous recombination mediated by the phage Che9c RecT annelase. This oligo contains a site-specific recombination site for the directional Bxb1 integrase (Int), which allows the simultaneous integration of a payload plasmid that contains a cognate ...


Pervasive Contingency And Entrenchment In A Billion Years Of Hsp90 Evolution, Tyler N. Starr, Julia Flynn, Parul Mishra, Daniel N. Bolon, Joseph W. Thornton 2018 University of Chicago

Pervasive Contingency And Entrenchment In A Billion Years Of Hsp90 Evolution, Tyler N. Starr, Julia Flynn, Parul Mishra, Daniel N. Bolon, Joseph W. Thornton

University of Massachusetts Medical School Faculty Publications

Interactions among mutations within a protein have the potential to make molecular evolution contingent and irreversible, but the extent to which epistasis actually shaped historical evolutionary trajectories is unclear. We addressed this question by identifying all amino acid substitutions that occurred during the billion-year evolutionary history of the heat shock protein 90 (Hsp90) ATPase domain beginning from a deep eukaryotic ancestor to modern Saccharomyces cerevisiae and then precisely measuring their fitness effects when introduced into both extant and reconstructed ancestral Hsp90 proteins. We find a pervasive influence of epistasis: of 98 derived states that evolved during history, most were deleterious ...


Heterochromatin Drives Organization Of Conventional And Inverted Nuclei, Martin Falk, Yana Feodorova, Natasha Naumova, Massachusetts Institute of Technology, Illumina Incorporated, Heinrich Leonhardt, Ludwig Maximilians Universitat, Munchen, Job Dekker, University of California, San Francisco 2018 Massachusetts Institute of Technology

Heterochromatin Drives Organization Of Conventional And Inverted Nuclei, Martin Falk, Yana Feodorova, Natasha Naumova, Massachusetts Institute Of Technology, Illumina Incorporated, Heinrich Leonhardt, Ludwig Maximilians Universitat, Munchen, Job Dekker, University Of California, San Francisco

University of Massachusetts Medical School Faculty Publications

The mammalian cell nucleus displays a remarkable spatial segregation of active euchromatic from inactive heterochromatic genomic regions. In conventional nuclei, euchromatin is localized in the nuclear interior and heterochromatin at the nuclear periphery. In contrast, rod photoreceptors in nocturnal mammals have inverted nuclei, with a dense heterochromatic core and a thin euchromatic outer shell. This inverted architecture likely converts rod nuclei into microlenses to facilitate nocturnal vision, and may relate to the absence of particular proteins that tether heterochromatin to the lamina. However, both the mechanism of inversion and the role of interactions between different types of chromatin and the ...


C9orf72 Ggggcc Repeat-Associated Non-Aug Translation Is Upregulated By Stress Through Eif2alpha Phosphorylation, Weiwei Cheng, Shaopeng Wang, Alexander A. Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R. Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W. Cleveland, Shuying Sun 2018 Johns Hopkins University

C9orf72 Ggggcc Repeat-Associated Non-Aug Translation Is Upregulated By Stress Through Eif2alpha Phosphorylation, Weiwei Cheng, Shaopeng Wang, Alexander A. Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R. Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W. Cleveland, Shuying Sun

Open Access Articles

Hexanucleotide repeat expansion in C9ORF72 is the most frequent cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we demonstrate that the repeat-associated non-AUG (RAN) translation of (GGGGCC) n -containing RNAs into poly-dipeptides can initiate in vivo without a 5'-cap. The primary RNA substrate for RAN translation of C9ORF72 sense repeats is shown to be the spliced first intron, following its excision from the initial pre-mRNA and transport to the cytoplasm. Cap-independent RAN translation is shown to be upregulated by various stress stimuli through phosphorylation of the alpha subunit of eukaryotic initiation factor-2 (eIF2alpha), the core ...


Diabetes Impairs Wound Healing By Dnmt1-Dependent Dysregulation Of Hematopoietic Stem Cells Differentiation Towards Macrophages, Jinglian Yan, Guodong Tie, Shoying Wang, Amanda A. Tutto, Natale DeMarco, Lyne Khair, Thomas G. Fazzio, Louis M. Messina 2018 University of Massachusetts Medical School

Diabetes Impairs Wound Healing By Dnmt1-Dependent Dysregulation Of Hematopoietic Stem Cells Differentiation Towards Macrophages, Jinglian Yan, Guodong Tie, Shoying Wang, Amanda A. Tutto, Natale Demarco, Lyne Khair, Thomas G. Fazzio, Louis M. Messina

Open Access Articles

People with type 2 diabetes mellitus (T2DM) have a 25-fold higher risk of limb loss than non-diabetics due in large part to impaired wound healing. Here, we show that the impaired wound healing phenotype found in T2D mice is recapitulated in lethally irradiated wild type recipients, whose hematopoiesis is reconstituted with hematopoietic stem cells (HSCs) from T2D mice, indicating an HSC-autonomous mechanism. This impaired wound healing phenotype of T2D mice is due to a Nox-2-dependent increase in HSC oxidant stress that decreases microRNA let-7d-3p, which, in turn, directly upregulates Dnmt1, leading to the hypermethylation of Notch1, PU.1, and Klf4 ...


Gene Therapy Using A Minicep290 Fragment Delays Photoreceptor Degeneration In A Mouse Model Of Leber Congenital Amaurosis, Wei Zhang, Linjing Li, Qin Su, Guangping Gao, Hemant Khanna 2018 University of Massachusetts Medical School

Gene Therapy Using A Minicep290 Fragment Delays Photoreceptor Degeneration In A Mouse Model Of Leber Congenital Amaurosis, Wei Zhang, Linjing Li, Qin Su, Guangping Gao, Hemant Khanna

Open Access Articles

Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder. The Cep290(rd16) (retinal degeneration 16) mouse (a model of LCA) carries a mutation in the Cep290 gene. This mutation leads to shorter cilia formation and defective photoreceptor structure and function. A roadblock to developing a gene replacement strategy for CEP290 using conventional adeno-associated virus (AAV) vectors is its large size. The identification and characterization is reported of a miniCEP290 gene that is amenable to AAV2/8-mediated delivery and delaying retinal degeneration ...


Clinical Relevance Of Μ-Opioid Receptor A118g Polymorphism In Demographically Variant Populations, Iryna Pokotylyuk, Srishti Kulshrestha, Zvi G. Loewy, Priyank Kumar 2018 Touro College of Pharmacy, New York Medical College

Clinical Relevance Of Μ-Opioid Receptor A118g Polymorphism In Demographically Variant Populations, Iryna Pokotylyuk, Srishti Kulshrestha, Zvi G. Loewy, Priyank Kumar

Touro College of Pharmacy (New York) Publications and Research

Use of opioids is essential in providing a broad and effective analgesic effect. Opioid dosing has to be monitored and controlled in order to manage pain and the corresponding side effects due to opioid treatment. A very common single nucleotide polymorphism (SNP) associated with the µ opioid receptor is A118G. A118G, located on exon 1 of the µ-opioid receptor gene (OPRM1), may alter how patients respond to opioid treatment. This polymorphism results in an exchange of adenine for guanine, which in turn leads to substitution of asparagine for the aspartic acid. In order to understand how individuals with the G ...


Integrating Genetic Counseling And Testing In The Pediatric Oncology Setting: Parental Attitudes And Influencing Factors, Lauren Renee Desrosiers 2018 University of South Carolina

Integrating Genetic Counseling And Testing In The Pediatric Oncology Setting: Parental Attitudes And Influencing Factors, Lauren Renee Desrosiers

Theses and Dissertations

Cancer predisposition syndromes (CPS), caused by germline pathogenic variants in tumor suppressor genes and oncogenes, are genetic conditions that put an individual at increased risk to develop cancer. It is estimated that 10-15% of children with cancer have an underlying CPS. Although genetic testing for these conditions has become routine in the adult setting, incorporation of germline genomic technologies into pediatric cancer care has not occurred as rapidly. The purpose of this study is to assess desire for genetic counseling and testing services among parents of children with cancer to provide parental insight in the incorporation of genomic technologies in ...


Design And Evaluation Of Gemini Surfactant-Based Lipoplexes Modified With Cell-Binding Peptide For Targeted Gene Therapy, Waleed Mohammed-Saeid, Rania Soudy, Richa Tikoo, Kamaljit Kaur, Ronald E. Verrall, Ildiko Badea 2018 University of Saskatchewan

Design And Evaluation Of Gemini Surfactant-Based Lipoplexes Modified With Cell-Binding Peptide For Targeted Gene Therapy, Waleed Mohammed-Saeid, Rania Soudy, Richa Tikoo, Kamaljit Kaur, Ronald E. Verrall, Ildiko Badea

Pharmacy Faculty Articles and Research

Purpose Achieving successful gene therapy requires delivery of a gene vector specifically to the targeted tissue with efficient expression and a good safety profile. The objective of this work was to develop, characterize and determine if a novel gemini surfactant-based lipoplex systems, modified with a cancer-targeting peptide p18-4, could serve this role. Methods The targeting peptide p18-4 was either chemically coupled to a gemini surfactant backbone or physically co-formulated with the lipoplexes. The influence of targeting ligand and formulation strategies on essential physicochemical properties of the lipoplexes was evaluated by dynamic light scattering and small angle X-ray scattering techniques. In ...


Family Planning Decisions After A Child’S Diagnosis Of Rett Syndrome: A Pilot Study, Erin E. Huggins 2018 University of South Carolina

Family Planning Decisions After A Child’S Diagnosis Of Rett Syndrome: A Pilot Study, Erin E. Huggins

Theses and Dissertations

Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females. In 99% of cases, RTT is believed to occur sporadically, or de novo. However, in rare cases, RTT can be passed down from parent to child through gonadal mosaicism or asymptomatic carrier mothers. It is known that having a child with an inherited genetic condition can lead to changes in family planning; however, little research has investigated this phenomenon in sporadic genetic conditions, such as RTT. This present study used a questionnaire to assess family planning decisions of parents of children with RTT. Forty-three percent of respondents reported ...


Understanding Barriers To Genetic Testing For Sickle Cell Trait: The African-American Male Perspective, Shandrea Foster 2018 University of South Carolina

Understanding Barriers To Genetic Testing For Sickle Cell Trait: The African-American Male Perspective, Shandrea Foster

Theses and Dissertations

Research has shown a reluctance in African-American males to pursue testing for sickle cell trait. Few studies have tried to discern what barriers are contributing to this issue within the African-American male community. Research suggests a lack of knowledge may be the biggest contributing factor. This study hypothesized there would be a significant difference in knowledge of sickle cell trait based on educational level, age, and health beliefs. African-America male participants (N=116), ages 18 and over, completed a questionnaire assessing knowledge, risk perception, health beliefs, barriers, and motivating factors within the context of sickle cell trait. One-way and two-way ...


Type 2 Diabetes Mellitus: Integrative Analysis Of Multiomics Data For Biomarker Discovery, Siqi Ge, Youxin Wang, Song Manshu, Xingang Li, Xinwei Yu, Hao Wang, Jing Wang, Qiang Zeng, Wei Wang 2018 Edith Cowan University

Type 2 Diabetes Mellitus: Integrative Analysis Of Multiomics Data For Biomarker Discovery, Siqi Ge, Youxin Wang, Song Manshu, Xingang Li, Xinwei Yu, Hao Wang, Jing Wang, Qiang Zeng, Wei Wang

ECU Publications Post 2013

Increased fasting plasma glucose (FPG) is an independent risk factor for type 2 diabetes mellitus (T2DM). The development of systems biology technologies for integration of multiomics data is crucial for predicting increased FPG levels. In this case-control study, immunoglobulin (Ig) G glycosylation profiling and genome-wide association analyses were performed on 511 participants, and among them 76 had increased FPG (aged 47.6 ± 6.14 years), and 435 had decreased or fluctuant FPG (aged 47.9 ± 6.08 years). We identified nine single nucleotide polymorphisms (SNPs) in five genes (RPL7AP27, SNX30, SLC39A12, BACE2, and IGFL2) that were significantly associated with increased ...


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