Browsing Department of Medical and Molecular Genetics by Issue Date

Browsing Department of Medical and Molecular Genetics by Issue Date

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  • Brown, Robert D., Jr.; Huston, John, III; Hornung, Richard; Foroud, Tatiana; Kallmes, David F.; Kleindorfer, Dawn; Meissner, Irene; Woo, Daniel; Sauerbeck, Laura; Broderick, Joseph (Journal of Neurosurgery Publishing Group (JNSPG), 2008-06)
    Object Approximately 20% of patients with an intracranial saccular aneurysm report a family history of intracranial aneurysm (IA) or subarachnoid hemorrhage. A better understanding of predictors of aneurysm detection ...
  • Heruth, Daniel P.; Hawkins, Troy; Logsdon, Derek P.; Gibson, Margaret I.; Sokolovsky, Inna V.; Nsumu, Ndona N.; Major, Stephanie L.; Fegley, Barbara; Woods, Gerald M.; Lewing, Karen B.; Neville, Kathleen A.; Cornetta, Kenneth; Peterson, Kenneth R.; White, Robert A. (Elsevier, 2010-11)
    KLF1 regulates definitive erythropoiesis of red blood cells by facilitating transcription through high affinity binding to CACCC elements within its erythroid specific target genes including those encoding erythrocyte ...
  • Koziel, Jillian E.; Fox, Melanie J.; Steding, Catherine E.; Sprouse, Alyssa A.; Herbert, Brittney-Shea (Wiley, 2011-03)
    Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands ...
  • Farlow, Janice L.; Foroud, Tatiana (Thieme, 2013-09)
    Over the past decade, there has been a dramatic evolution of genetic methodologies that can be used to identify genes contributing to disease. Initially, the focus was primarily on classical linkage analysis; more recently, ...
  • Krukenberg, Rebekah C; Koller, Daniel L; Weaver, David D; Dickerson, Jennifer N; Quaid, Kimberly A (2013-10)
    Predictive testing for Huntington disease (HD) has been available in the United States (US) since 1987, and the Indiana University Predictive Testing Program has been providing this testing since 1990. To date there has ...
  • McClintick, Jeanette N.; Xuei, Xiaoling; Tischfield, Jay A.; Goate, Alison; Foroud, Tatiana; Wetherill, Leah; Ehringer, Marissa A.; Edenberg, Howard J. (Elsevier, 2013-11)
    The chronic high-level alcohol consumption seen in alcoholism leads to dramatic effects on the hippocampus, including decreased white matter, loss of oligodendrocytes and other glial cells, and inhibition of neurogenesis. ...
  • Vatta, Matteo; Niu, Zhiyv; Lupski, James R.; Putnam, Philip; Spoonamore, Katherine G.; Fang, Ping; Eng, Christine M.; Willis, Alecia S. (Wiley, 2013-12)
    Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases. Most CHD7 mutations arise de novo, and no ...
  • Sarro, Joseph; Andrews, Emily; Sun, Longhua; Behura, Susanta K.; Tan, John C.; Zeng, Erliang; Severson, David W.; Duman-Scheel, Molly (Wiley, 2013-12)
    BACKGROUND: In Drosophila melanogaster, commissureless (comm) function is required for proper nerve cord development. Although comm orthologs have not been identified outside of Drosophila species, some insects possess ...
  • Cornetta, Kenneth (MDPI, 2013-12)
    The development of biologic agents for therapeutic purposes, or biomedicines, has seen an active area of research both at the bench and in clinical trials. There is mounting evidence that biologic products can provide ...
  • Yang, William; Yoshigoe, Kenji; Qin, Xiang; Liu, Jun S.; Yang, Jack Y.; Niemierko, Andrzej; Deng, Youping; Liu, Yunlong; Dunker, A. Keith; Chen, Zhongxue; Wang, Liangjiang; Xu, Dong; Arabnia, Hamid R.; Tong, Weida; Yang, Mary Qu (Springer (Biomed Central Ltd.), 2014)
    BACKGROUND: Kidney Renal Clear Cell Carcinoma (KIRC) is one of fatal genitourinary diseases and accounts for most malignant kidney tumours. KIRC has been shown resistance to radiotherapy and chemotherapy. Like many types ...
  • Ruiz, Rafaela; Jideonwo, Victoria; Ahn, Miwon; Surendran, Sneha; Tagliabracci, Vincent S.; Hou, Yongyong; Gamble, Aisha; Kerner, Janos; Irimia-Dominguez, Jose M.; Puchowicz, Michelle A.; Hoppel, Charles; Roach, Peter; Morral, Nuria (ASBMB, 2014-01-07)
    Sterol regulatory element-binding protein-1 (SREBP-1) is a key transcription factor that regulates genes in the de novo lipogenesis and glycolysis pathways. The levels of SREBP-1 are significantly elevated in obese patients ...
  • Okayama, Sachiyo; Kopelovich, Levy; Balmus, Gabriel; Weiss, Robert S.; Herbert, Brittney-Shea; Dannenberg, Kotha (ASBMB, 2014-01-22)
    The p53 tumor suppressor gene encodes a homotetrameric transcription factor which is activated in response to a variety of cellular stressors, including DNA damage and oncogene activation. p53 mutations occur in >50% of ...
  • Slee, Roger B.; Grimes, Brenda R.; Bansal, Ruchi; Gore, Jesse; Blackburn, Corinne; Brown, Lyndsey; Gasaway, Rachel; Jeong, Jaesik; Victorino, Jose; March, Keith L.; Colombo, Riccardo; Herbert, Brittney-Shea; Korc, Murray (American Association for Cancer Research, 2014-02)
    Most solid tumors, including pancreatic ductal adenocarcinoma (PDAC), exhibit structural and numerical chromosome instability (CIN). Although often implicated as a driver of tumor progression and drug resistance, CIN also ...
  • Kim, Seongho; Li, Lang (Elsevier, 2014-02)
    The statistical identifiability of nonlinear pharmacokinetic (PK) models with the Michaelis-Menten (MM) kinetic equation is considered using a global optimization approach, which is particle swarm optimization (PSO). If a ...
  • Wetherill, Leah; Kapoor, Manav; Agrawal, Arpana; Bucholz, Kathleen; Koller, Daniel; Bertelsen, Sarah E.; Le, Nhung; Wang, Jen-Chyong; Almasy, Laura; Hesselbrock, Victor; Kramer, John; Nurnberger, John I.; Schuckit, Marc; Tischfield, Jay A.; Xuei, Xiaoling; Porjesz, Bernice; Edenberg, Howard J.; Goate, Alison M.; Foroud, Tatiana (Wiley Blackwell (Blackwell Publishing), 2014-02)
    Background Despite the high heritability of alcohol dependence (AD), the genes found to be associated with it account for only a small proportion of its total variability. The goal of this study was to identify and analyze ...
  • Clinkenbeard, Erica L.; Farrow, Emily G.; Summers, Lelia J.; Cass, Taryn A.; Roberts, Jessica L.; Bayt, Christine; Lahm, Tim; Albrecht, Marjorie; Allen, Matthew R.; Peacock, Munro; White, Kenneth E. (Wiley, 2014-02)
    Fibroblast growth factor 23 (FGF23) gain of function mutations can lead to autosomal dominant hypophosphatemic rickets (ADHR) disease onset at birth, or delayed onset following puberty or pregnancy. We previously demonstrated ...
  • Li, Hongge; Tao, Chenqi; Cai, Zhigang; Hertzler-Schaefer, Kristina; Collins, Tamica N.; Wang, Fen; Feng, Gen-Sheng; Gotoh, Noriko; Zhang, Xin (Company of Biologists, 2014-02-01)
    Fibroblast growth factor (FGF) signaling requires a plethora of adaptor proteins to elicit downstream responses, but the functional significances of these docking proteins remain controversial. In this study, we used lens ...
  • AbouAlaiwi, Wissam A.; Muntean, Brian S.; Ratnam, Shobha; Joe, Bina; Liu, Lijun; Booth, Robert L.; Rodriguez, Ingrid; Herbert, Britney S.; Bacallao, Robert L.; Fruttiger, Marcus; Mak, Tak W.; Zhou, Jing; Nauli, Surya M. (Ovid Technologies Wolters Kluwer -American Heart Association, 2014-02-11)
    BACKGROUND: Cystic kidneys and vascular aneurysms are clinical manifestations seen in patients with polycystic kidney disease, a cilia-associated pathology (ciliopathy). Survivin overexpression is associated with cancer, ...
  • Wolstein, Orit; Boyd, Maureen; Millington, Michelle; Impey, Helen; Boyer, Joshua; Howe, Annett; Delebecque, Frederic; Cornetta, Kenneth; Rothe, Michael; Baum, Christopher; Nicolson, Tamara; Koldej, Rachel; Zhang, Jane; Keech, Naomi; Camba Colón, Joanna; Breton, Louis; Bartlett, Jeffrey; An, Dong Sung; Chen, Irvin SY; Burke, Bryan; Symonds, Geoff P. (Nature Publishing Group, 2014-02-12)
    Gene transfer has therapeutic potential for treating HIV-1 infection by generating cells that are resistant to the virus. We have engineered a novel self-inactivating lentiviral vector, LVsh5/C46, using two viral-entry ...

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