Browsing by Title

Now showing items 36730-36749 of 58461

    • Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men 

      Tung, Joyce Y; Rosen, Mitchell P; Nelson, Lawrence M; Turek, Paul J; Witte, John S; Cramer, Daniel William; Cedars, Marcelle I; Reijo Pera, Renee A (Springer Science + Business Media, 2006)
      Background The Deleted-in-AZoospermia-Like (DAZL) gene has homologs required for germ cell development in many organisms. Recently, we showed that there are several common polymorphisms within the DAZL gene that are ...

    • A Novel MMP12 Locus Is Associated with Large Artery Atherosclerotic Stroke Using a Genome-Wide Age-at-Onset Informed Approach 

      Traylor, Matthew; Mäkelä, Kari-Matti; Kilarski, Laura L.; Holliday, Elizabeth G.; Devan, William J.; Nalls, Mike A.; Wiggins, Kerri L.; Zhao, Wei; Cheng, Yu-Ching; Achterberg, Sefanja; Malik, Rainer; Sudlow, Cathie; Bevan, Steve; Raitoharju, Emma; Oksala, Niku; Thijs, Vincent; Lemmens, Robin; Lindgren, Arne; Slowik, Agnieszka; Maguire, Jane M.; Walters, Matthew; Algra, Ale; Sharma, Pankaj; Attia, John R.; Boncoraglio, Giorgio B.; Rothwell, Peter M.; de Bakker, Paul I. W.; Bis, Joshua C.; Saleheen, Danish; Kittner, Steven J.; Mitchell, Braxton D.; Rosand, Jonathan; Meschia, James F.; Levi, Christopher; Dichgans, Martin; Lehtimäki, Terho; Lewis, Cathryn M.; Markus, Hugh S. (Public Library of Science, 2014)
      Genome-wide association studies (GWAS) have begun to identify the common genetic component to ischaemic stroke (IS). However, IS has considerable phenotypic heterogeneity. Where clinical covariates explain a large fraction ...

    • Novel modes of mTORC1 regulation by amino acids 

      Buel, Gwen (2016-09-06)
      In order to maintain homeostasis, cells must be able to sense, interpret, and coordinate responses to environmental factors including energy status, amino acid availability, and the presence of growth factors. One important ...

    • Novel Molecular Investigations Into: (1) Obstructive Sleep Apnea and (2) De Novo Postpartum Hypertension 

      Maski, Manish R. (2015-05-20)
      There are two themes of the work herein presented: (1) exploration of the molecular pathophysiology of obstructive sleep apnea (OSA), and (2) the role of angiogenic factors in selected diseases, including OSA, de novo ...

    • Novel Molecules Regulating Energy Homeostasis: Physiology and Regulation by Macronutrient Intake and Weight Loss 

      Gavrieli, Anna; Mantzoros, Christos S. (Korean Endocrine Society, 2016)
      Excess energy intake, without a compensatory increase of energy expenditure, leads to obesity. Several molecules are involved in energy homeostasis regulation and new ones are being discovered constantly. Appetite regulating ...

    • A novel Monoclonal Antibody against Notch1 Targets Leukemia-associated Mutant Notch1 and Depletes Therapy Resistant Cancer Stem Cells in Solid Tumors 

      Sharma, Ankur; Gadkari, Rupali A; Ramakanth, Satthenapalli V; Padmanabhan, Krishnanand; Madhumathi, Davanam S; Devi, Lakshmi; Appaji, Lingappa; Aster, Jon C; Rangarajan, Annapoorni; Dighe, Rajan R (Nature Publishing Group, 2015)
      Higher Notch signaling is known to be associated with hematological and solid cancers. We developed a potential immunotherapeutic monoclonal antibody (MAb) specific for the Negative Regulatory Region of Notch1 (NRR). The ...

    • A Novel Mouse Model for Neurotrophic Keratopathy: Trigeminal Nerve Stereotactic Electrolysis through the Brain 

      Ferrari, Giulio; Chauhan, Sunil Kumar; Ueno, Hiroki; Nallasamy, Nambi; Gandolfi, Stefano; Borges, Lawrence Francis; Dana, Reza (Association for Research in Vision and Ophthalmology (ARVO), 2011)
      Purpose. To develop a mouse model of neurotrophic keratopathy by approaching the trigeminal nerve through the brain and to evaluate changes in corneal cell apoptosis and proliferation. Methods. Six- to 8-week-old ...

    • A novel mouse model identifies cooperating mutations and therapeutic targets critical for chronic myeloid leukemia progression 

      Giotopoulos, George; van der Weyden, Louise; Osaki, Hikari; Rust, Alistair G.; Gallipoli, Paolo; Meduri, Eshwar; Horton, Sarah J.; Chan, Wai-In; Foster, Donna; Prinjha, Rab K.; Pimanda, John E.; Tenen, Daniel G.; Vassiliou, George S.; Koschmieder, Steffen; Adams, David J.; Huntly, Brian J.P. (The Rockefeller University Press, 2015)
      The introduction of highly selective ABL-tyrosine kinase inhibitors (TKIs) has revolutionized therapy for chronic myeloid leukemia (CML). However, TKIs are only efficacious in the chronic phase of the disease and effective ...

    • A Novel Multigenic Immunodeficiency Affecting Interferon Mediated Immunity 

      Hoyos Bachiloglu, Rodrigo A. (2016-05-19)
      Primary immunodeficiencies are classically considered monogenic disorders characterized by host susceptibility to specific infectious pathogens. Patients with genetic defects in the IL-12/interferon gamma (IFN-γ) axis have ...

    • A Novel Murine Model for Keratoprosthesis 

      Crnej, Alja; Omoto, Masahiro; Dohlman, Thomas H.; Graney, John M.; Dohlman, Claes Henrik; Drnovsek-Olup, Brigita; Dana, Reza (Association for Research in Vision and Ophthalmology (ARVO), 2014)
      Purpose. To establish a murine model for keratoprosthesis. Methods. A miniature keratoprosthesis (m-KPro) device was created consisting of a poly[methyl methacrylate] front part and a titanium back plate, designed ...

    • Novel Mutant-Selective EGFR Kinase Inhibitors Against EGFR T790M 

      Zhou, Wenjun; Ercan, Dalia; Chen, Liang; Yun, Cai-Hong; Li, Danan; Capelletti, Marzia; Cortot, Alexis; Chirieac, Lucian; Iacob, Roxana E.; Padera, Robert; Engen, John R.; Wong, Kwok-Kin; Eck, Michael; Gray, Nathanael S.; Janne, Pasi (Springer Science and Business Media LLC, 2009-12-24)
      The clinical efficacy of epidermal growth factor receptor (EGFR) kinase inhibitors in EGFR-mutant non-small-cell lung cancer (NSCLC) is limited by the development of drug-resistance mutations, including the gatekeeper T790M ...

    • Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy 

      Sullivan, Jeremy M.; Zimanyi, Christina M.; Aisenberg, William; Bears, Breanne; Chen, Dong-Hui; Day, John W.; Bird, Thomas D.; Siskind, Carly E.; Gaudet, Rachelle; Sumner, Charlotte J. (Wolters Kluwer, 2015)
      Objective: To characterize 2 novel TRPV4 mutations in 2 unrelated families exhibiting the Charcot-Marie-Tooth disease type 2C (CMT2C) phenotype. Methods: Direct CMT gene testing was performed on 2 unrelated families with ...

    • Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis 

      Corrochano, Silvia; Männikkö, Roope; Joyce, Peter I.; McGoldrick, Philip; Wettstein, Jessica; Lassi, Glenda; Raja Rayan, Dipa L.; Blanco, Gonzalo; Quinn, Colin; Liavas, Andrianos; Lionikas, Arimantas; Amior, Neta; Dick, James; Healy, Estelle G.; Stewart, Michelle; Carter, Sarah; Hutchinson, Marie; Bentley, Liz; Fratta, Pietro; Cortese, Andrea; Cox, Roger; Brown, Steve D. M.; Tucci, Valter; Wackerhage, Henning; Amato, Anthony A.; Greensmith, Linda; Koltzenburg, Martin; Hanna, Michael G.; Acevedo-Arozena, Abraham (Oxford University Press, 2014)
      Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects ...

    • Novel Mutations in PRPP Synthetase to Deregulate the Purine Pathway and Its Effect on Riboflavin Production in Bacillus Subtilis 

      DeLucia, Frank A. (2020-04-13)
      Riboflavin, also known as Vitamin B2, is a molecule critical for both human and animal health. Its biosynthesis is fed by two pathways, the pentose phosphate pathway and the tightly regulated purine pathway. In an effort ...

    • A novel mycobacterial Hsp70-containing fusion protein targeting mesothelin augments antitumor immunity and prolongs survival in murine models of ovarian cancer and mesothelioma 

      Yuan, Jianping; Kashiwagi, Satoshi; Reeves, Patrick; Nezivar, Jean; Yang, Yuan; Arrifin, Nadiah Hashim; Nguyen, Mai; Jean-Mary, Gilberte; Tong, Xiaoyun; Uppal, Paramjit; Korochkina, Svetlana; Forbes, Ben; Chen, Tao; Righi, Elda; Bronson, Roderick; Chen, Huabiao; Orsulic, Sandra; Brauns, Timothy; Leblanc, Pierre; Scholler, Nathalie; Dranoff, Glenn; Gelfand, Jeffrey; Poznansky, Mark C (BioMed Central, 2014)
      Background: Although dendritic cell (DC) vaccines are considered to be promising treatments for advanced cancer, their production and administration is costly and labor-intensive. We developed a novel immunotherapeutic ...

    • Novel n-3 Immunoresolvents: Structures and Actions 

      Dalli, Jesmond; Colas, Romain A.; Serhan, Charles N. (Nature Publishing Group, 2013)
      Resolution of inflammation is now held to be an active process where autacoids promote homeostasis. Using functional-metabololipidomics and in vivo systems, herein we report that endogenous n-3 docosapentaenoic (DPA) acid ...

    • Novel Nano-Engineered Titanium Surface for Direct Connective Tissue Attachment 

      Chen, Chia-Yu (2019-07-17)
      Introduction: One of the greatest differences between natural teeth and dental implants lies in the attachment apparatus. Collagen fiber bundles connect the tooth to the gingiva in the form of connective tissue attachment ...

    • Novel nanowire structures and devices for nanoelectronic bioprobes 

      Jiang, Zhe (2015-04-29)
      Semiconductor nanowire materials and devices provide unique opportunities in the frontier between nanoelectronics and biology. The bottom-up paradigm enables flexible synthesis and patterning of nanoscale building blocks ...

    • Novel non-invasive biomarkers that distinguish between benign prostate hyperplasia and prostate cancer 

      Jedinak, Andrej; Curatolo, Adam; Zurakowski, David; Dillon, Simon; Bhasin, Manoj K; Libermann, Towia A; Roy, Roopali; Sachdev, Monisha; Loughlin, Kevin R; Moses, Marsha A (BioMed Central, 2015)
      Background: The objective of this study was to discover and to validate novel noninvasive biomarkers that distinguish between benign prostate hyperplasia (BPH) and localized prostate cancer (PCa), thereby helping to solve ...

    • Novel Nutritional and Lifestyle Factors for Cardiometabolic Risk in Prospective Cohorts and Randomized Clinical Trial 

      Ma, Wenjie (2017-04-17)
      Cardiovascular disease (CVD) is the leading cause of death worldwide. Great advances have been made in identifying important cardiometabolic risk factors. More recently, emerging evidence has suggested several novel etiology ...