Department of Medical and Molecular Genetics Works

Department of Medical and Molecular Genetics Works

 

Recent Submissions

  • Kokiko-Cochran, Olga N.; Saber, Maha; Puntambekar, Shweta; Bemiller, Shane; Katsumoto, Atsuko; Lee, Yu-Shang; Bhaskar, Kiran; Ransohoff, Richard M.; Lamb, Bruce T. (Liebert, 2017)
    TBI induces widespread neuroinflammation and accumulation of microtubule associated protein tau (MAPT) - two key pathological features of tauopathies. This study sought to characterize the microglial/macrophage response ...
  • Clinkenbeard, Erica L; Cass, Taryn A.; Ni, Pu; Hum, Julia M.; Bellido, Teresita; Allen, Matthew R.; White, Kenneth E. (Wiley, 2016-06)
    The transgenic and knockout (KO) animals involving Fgf23 have been highly informative in defining novel aspects of mineral metabolism, but are limited by shortened lifespan, inability of spatial/temporal FGF23 control, and ...
  • Jay, Taylor R.; Hirsch, Anna M.; Broihier, Margaret L.; Miller, Crystal M.; Neilson, Lee E.; Ransohoff, Richard M.; Lamb, Bruce T.; Landreth, Gary E. (2017-01)
    Neuroinflammation is an important contributor to Alzheimer's disease (AD) pathogenesis, as underscored by the recent identification of immune-related genetic risk factors for AD, including coding variants in the gene TREM2 ...
  • Butler, Merlin G.; Meaney, F. John; Opitz, John M.; Reynolds, James F. (Wiley, 1987-02)
    Weight, height, sitting height, and 24 other anthropometric variables (5 body circumferences, skinfolds at 7 sites, 4 head dimensions, and 8 hand and foot measurements) were obtained on 38 Prader-Labhart-Willi syndrome ...
  • Butler, M. G; Fletcher, M.; Gale, D. D.; Meaney, F. J.; McLeod, D. R.; Fagan, J.; Carpenter, N. J.; Opitz, J. M.; Reynolds, J. F. (Wiley, 1988-12)
    We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin-Bell—syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra ...
  • Hum, Julia M.; Clinkenbeard, Erica L.; Ip, Colin; Cass, Taryn A.; Allen, Matt; White, Kenneth E. (Elsevier, 2017-06)
    Fibroblast growth factor-23 (FGF23) controls key responses to systemic phosphate increases through its phosphaturic actions on the kidney. In addition to stimulation by phosphate, FGF23 positively responds to iron deficiency ...
  • Butler, Merlin G.; Hodes, M.E.; Conneally, P.M.; Biegel, Angenieta A.; Wright, James C. (Wiley, 1984-05-18)
    Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. ...
  • Livingstone, Mark; Folkman, Lukas; Yang, Yuedong; Zhang, Ping; Mort, Matthew; Cooper, David N.; Liu, Yunlong; Stantic, Bela; Zhou, Yaoqi (Wiley, 2017)
    Synonymous single-nucleotide variants (SNVs), although they do not alter the encoded protein sequences, have been implicated in many genetic diseases. Experimental studies indicate that synonymous SNVs can lead to changes ...
  • Celestino-Soper, Patrícia B. S.; Gao, Hongyu; Lynnes, Ty C.; Lin, Hai; Liu, Yunlong; Spoonamore, Katherine G.; Chen, Peng-Sheng; Vatta, Matteo (Frontiers, 2017-03-15)
    The development of high-throughput technologies such as next-generation sequencing (NGS) has allowed for thousands of DNA loci to be interrogated simultaneously in a fast and economical method for the detection of clinically ...
  • Kwon, Jason J.; Willy, Jeffrey A.; Quirin, Kayla A.; Wek, Ronald C.; Korc, Murray; Yin, Xiao-Ming; Kota, Janaiah (Impact Journals, 2016-11-01)
    Pancreatic Ductal Adenocarcinoma (PDAC) is a highly lethal malignancy that responds poorly to current therapeutic modalities. In an effort to develop novel therapeutic strategies, we found downregulation of miR-29 in ...
  • Clinkenbeard, Erica L.; White, Kenneth E. (Springer, 2016-03-01)
    The regulation of phosphate metabolism as an influence on bone homeostasis is profound. Recent advances in understanding the systemic control of Fibroblast growth factor-23 (FGF23) has uncovered novel effectors of endocrine ...
  • Shaw, Aaron M.; Joseph, Guiandre L.; Jasti, Aparna C.; Sastry-Dent, Lakshmi; Witting, Scott; Cornetta, Kenneth (SpringerNature, 2017-01)
    A variety of mutations in lentiviral vector expression systems have been shown to generate a non-integrating phenotype. We studied a novel 12 base-pair U3-long terminal repeats (LTR) integrase (IN) attachment site deletion ...
  • Koller, Daniel L.; Imel, Erik A.; Lai, Dongbing; Padgett, Leah R.; Acton, Dena; Gray, Amie; Peacock, Munro; Econs, Michael J.; Foroud, Tatiana (Elsevier, 2016-03)
    A genome-wide association study was performed in 1,130 premenopausal women to detect common variants associated with three serum iron-related phenotypes. Total iron binding capacity was strongly associated (p=10−14) with ...
  • Birch, Sharla M.; Lenox, Mark W.; Kornegay, Joe N.; Shen, Li; Ai, Huisi; Ren, Xiaowei; Goodlett, Charles R.; Cudd, Tim A.; Washburn, Shannon E. (Elsevier, 2015-11)
    Identification of facial dysmorphology is essential for the diagnosis of fetal alcohol syndrome (FAS); however, most children with fetal alcohol spectrum disorders (FASD) do not meet the dysmorphology criterion. Additional ...
  • Suttie, Michael; Wetherill, Leah; Jacobson, Sandra W.; Jacobson, Joseph L.; Hoyme, H. Eugene; Sowell, Elizabeth R.; Coles, Claire; Wozniak, Jeffrey R.; Riley, Edward P.; Jones, Kenneth L.; Foroud, Tatiana; Hammond, Peter (Wiley, 2017)
    Background Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure by developing computer-based tools for screening facial form. Methods All 415 individuals considered were evaluated ...
  • Schwantes-An, Tae-Hwi; Zhang, Juan; Chen, Li-Shiun; Hartz, Sarah M.; Culverhouse, Robert C.; Chen, Xiangning; Coon, Hilary; Frank, Josef; Kamens, Helen M.; Konte, Bettina; Kovanen, Leena; Latvala, Antti; Legrand, Lisa N.; Maher, Brion S.; Melroy, Whitney E.; Nelson, Elliot C.; Reid, Mark W.; Robinson, Jason D.; Shen, Pei-Hong; Yang, Bao-Zhu; Andrews, Judy A.; Aveyard, Paul; Beltcheva, Olga; Brown, Sandra A.; Cannon, Dale S.; Cichon, Sven; Corley, Robin P.; Dahmen, Norbert; Degenhardt, Louisa; Foroud, Tatiana; Gaebel, Wolfgang; Giegling, Ina; Glatt, Stephen J.; Grucza, Richard A.; Hardin, Jill; Hartmann, Annette M.; Heath, Andrew C.; Herms, Stefan; Hodgkinson, Colin A.; Hoffmann, Per; Hops, Hyman; Huizinga, David; Ising, Marcus; Johnson, Eric O.; Johnstone, Elaine; Kaneva, Radka P.; Kendler, Kenneth S.; Kiefer, Falk; Kranzler, Henry R.; Krauter, Ken S.; Levran, Orna; Lucae, Susanne; Lynskey, Michael T.; Maier, Wolfgang; Mann, Karl; Martin, Nicholas G.; Mattheisen, Manuel; Montgomery, Grant W.; Müller-Myhsok, Bertram; Murphy, Michael F.; Neale, Michael C.; Nikolov, Momchil A.; Nishita, Denise; Nöthen, Markus M.; Nurnberger, John; Partonen, Timo; Pergadia, Michele L.; Reynolds, Maureen; Ridinger, Monika; Rose, Richard J.; Rouvinen-Lagerström, Noora; Scherbaum, Norbert; Schmäl, Christine; Soyka, Michael; Stallings, Michael C.; Steffens, Michael; Treutlein, Jens; Tsuang, Ming; Wallace, Tamara L.; Wodarz, Norbert; Yuferov, Vadim; Zill, Peter; Bergen, Andrew W.; Chen, Jingchun; Cinciripini, Paul M.; Edenberg, Howard J.; Ehringer, Marissa A.; Ferrell, Robert E.; Gelernter, Joel; Goldman, David; Hewitt, John K.; Hopfer, Christian J.; Iacono, William G.; Kaprio, Jaakko; Kreek, Mary Jeanne; Kremensky, Ivo M.; Madden, Pamela A.F.; McGue, Matt; Munafò, Marcus R.; Philibert, Robert A.; Rietschel, Marcella; Roy, Alec; Rujescu, Dan; Saarikoski, Sirkku T.; Swan, Gary E.; Todorov, Alexandre A.; Vanyukov, Michael M.; Weiss, Robert B.; Bierut, Laura J.; Saccone, Nancy L. (Springer, 2016-03)
    The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) ...
  • Behura, Susanta K.; Sarro, Joseph; Li, Ping; Mysore, Keshava; Severson, David W.; Emrich, Scott J.; Duman-Scheel, Molly (BioMed Central, 2016-05-10)
    BACKGROUND: Despite substantial progress in mosquito genomic and genetic research, few cis-regulatory elements (CREs), DNA sequences that control gene expression, have been identified in mosquitoes or other non-model ...
  • Joseph, Loren; Cankovic, Milena; Caughron, Samuel; Chandra, Pranil; Emmadi, Rajyasree; Hagenkord, Jill; Hallam, Stephanie; Jewell, Kay E.; Klein, Roger; Pratt, Victoria M.; Rothberg, Paul G.; Temple-Smolkin, Robyn L.; Lyon, Elaine (Elsevier, 2016-09)
  • Wetherill, Leah; Agrawal, Arpana; Kapoor, Manav; Bertelsen, Sarah; Bierut, Laura J.; Brooks, Andrew; Dick, Danielle; Hesselbrock, Michie; Hesselbrock, Victor; Koller, Daniel L.; Le, Nhung; Nurnberger Jr., John I.; Salvatore, Jessica E.; Schuckit, Marc; Tischfield, Jay A.; Wang, Jen-Chyong; Xuei, Xiaoling; Edenberg, Howard J.; Porjesz, Bernice; Bucholz, Kathleen; Goate, Alison M.; Foroud, Tatiana (Wiley, 2015-05)
    Alcohol and drug use disorders are individually heritable (50%). Twin studies indicate that alcohol and substance use disorders share common genetic influences, and therefore may represent a more heritable form of addiction ...
  • O’Bryant, Sid E.; Gupta, Veer; Henriksen, Kim; Edwards, Melissa; Jeromin, Andreas; Lista, Simone; Bazenet, Chantal; Soares, Holly; Lovestone, Simon; Hampel, Harald; Montine, Thomas; Blennow, Kaj; Foroud, Tatiana; Carrillo, Maria; Graff-Radford, Neill; Laske, Christoph; Breteler, Monique; Shaw, Leslie; Trojanowski, John Q.; Schupf, Nicole; Rissman, Robert A.; Fagan, Anne M.; Oberoi, Pankaj; Umek, Robert; Weiner, Michael W.; Grammas, Paul; Posner, Holly; Martins, Ralph (Elsevier, 2015-05)
    The lack of readily available biomarkers is a significant hindrance towards progressing to effective therapeutic and preventative strategies for Alzheimer’s disease (AD). Blood-based biomarkers have potential to overcome ...

View more