Browsing HMS Scholarly Articles by Title

Now showing items 180-199 of 17922

    • Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss 

      Yang, Jun; Liu, Xiaoqing; Zhao, Yun; Adamian, Michael; Pawlyk, Basil; Sun, Xun; McMillan, D. Randy; Liberman, M. Charles; Li, Tiansen (Public Library of Science, 2010)
      Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin ...

    • Abnormal Angular Gyrus Asymmetry in Schizophrenia 

      Niznikiewicz, Margaret A.; Donnino, Robert; McCarley, Robert William; Nestor, Paul Gerard; Iosifescu, Daniel V.; O'Donnell, Brian; Levitt, James Jonathan; Shenton, Martha Elizabeth (American Psychiatric Publishing, 2000)
      Objective: Few studies have evaluated the parietal lobe in schizophrenia despite the fact that it has an important role in attention, memory, and language—all functions that have been reported to be abnormal in schizophrenia. ...

    • Abnormal Brain Iron Metabolism in Irp2 Deficient Mice Is Associated with Mild Neurological and Behavioral Impairments 

      Zumbrennen-Bullough, Kimberly B.; Becker, Lore; Garrett, Lillian; Hölter, Sabine M.; Calzada-Wack, Julia; Mossbrugger, Ilona; Quintanilla-Fend, Leticia; Racz, Ildiko; Rathkolb, Birgit; Klopstock, Thomas; Wurst, Wolfgang; Zimmer, Andreas; Wolf, Eckhard; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabě; Romney, Steven J.; Leibold, Elizabeth A. (Public Library of Science, 2014)
      Iron Regulatory Protein 2 (Irp2, Ireb2) is a central regulator of cellular iron homeostasis in vertebrates. Two global knockout mouse models have been generated to explore the role of Irp2 in regulating iron metabolism. ...

    • Abnormal Calcium Handling and Exaggerated Cardiac Dysfunction in Mice with Defective Vitamin D Signaling 

      Choudhury, Sangita; Bae, Soochan; Ke, Qingen; Lee, Ji Yoo; Singh, Sylvia S.; St-Arnaud, René; del Monte, Federica; Kang, Peter M. (Public Library of Science, 2014)
      Aim Altered vitamin D signaling is associated with cardiac dysfunction, but the pathogenic mechanism is not clearly understood. We examine the mechanism and the role of vitamin D signaling in the development of cardiac ...

    • Abnormal Dosage of Ultraconserved Elements Is Highly Disfavored in Healthy Cells but Not Cancer Cells 

      McCole, Ruth B.; Fonseka, Chamith Y.; Koren, Amnon; Wu, C.-ting (Public Library of Science, 2014)
      Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian ...

    • Abnormal error processing in depressive states: a translational examination in humans and rats 

      Beard, C; Donahue, R J; Dillon, D G; Van't Veer, A; Webber, C; Lee, J; Barrick, E; Hsu, K J; Foti, D; Carroll, F I; Carlezon Jr, W A; Björgvinsson, T; Pizzagalli, D A (Nature Publishing Group, 2015)
      Depression has been associated with poor performance following errors, but the clinical implications, response to treatment and neurobiological mechanisms of this post-error behavioral adjustment abnormality remain unclear. ...

    • Abnormal Large Central Occipital Emissary Vein: A Case Report and Review of Literature 

      Salem, Mohamed; Dolati, Parviz; Fusco, Matthew R; Ogilvy, Christopher S; Thomas, Ajith J. (Cureus, 2016)
      A detailed description of the anatomy of the central occipital emissary vein, its embryology, anatomy, and abnormal variations is not available in the literature. This is the first known case report. A 48-year-old female ...

    • Abnormal lateralization of functional connectivity between language and default mode regions in autism 

      Nielsen, Jared A; Zielinski, Brandon A; Fletcher, P Thomas; Alexander, Andrew L; Lange, Nicholas; Bigler, Erin D; Lainhart, Janet E; Anderson, Jeffrey S (BioMed Central, 2014)
      Background: Lateralization of brain structure and function occurs in typical development, and abnormal lateralization is present in various neuropsychiatric disorders. Autism is characterized by a lack of left lateralization ...

    • Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria 

      Wang, Yongming; Langer, Nathaniel B.; Shaw, George C.; Yang, Guang; Li, Liangtao; Kaplan, Jerry; Paw, Barry Htin; Bloomer, Joseph R. (Elsevier BV, 2011)

    • Abnormal movements in critical care patients with brain injury: a diagnostic approach 

      Hannawi, Yousef; Abers, Michael S.; Geocadin, Romergryko G.; Mirski, Marek A. (BioMed Central, 2016)
      Abnormal movements are frequently encountered in patients with brain injury hospitalized in intensive care units (ICUs), yet characterization of these movements and their underlying pathophysiology is difficult due to the ...

    • Abnormal Neural Synchrony in Schizophrenia 

      Spencer, Kevin M.; Nestor, Paul Gerard; Niznikiewicz, Margaret A.; Salisbury, Dean F.; Shenton, Martha Elizabeth; McCarley, Robert William (2003)
      Schizophrenia has been conceptualized as a failure of cognitive integration, and abnormalities in neural circuitry (particularly inhibitory interneurons) have been proposed as a basis for this disorder. We used measures ...

    • Abnormal pitch mismatch negativity in individuals with schizotypal personality disorder 

      Niznikiewicz, Margaret A.; Spencer, Kevin M.; Dickey, Chandlee C.; Voglmaier, Martina M.; Seidman, Larry Joel; Shenton, Martha Elizabeth; McCarley, Robert William (Elsevier BV, 2009)
      Background: The goal of the study was to examine mismatch negativity (MMN) in schizotypal personality disorder (SPD) individuals. Abnormal MMN has been a consistent finding in chronic schizophrenia and there are also have ...

    • Abnormal rib count in scoliosis surgery: impact on the reporting of spinal fusion levels 

      Spencer, Hillard T.; Gold, Meryl E.; Hresko, M. Timothy (Springer Berlin Heidelberg, 2014)
      Purpose Variation in rib numbering has been noted in adolescent idiopathic scoliosis (AIS), but its effect on the reporting of fusion levels has not been studied. We hypothesized that vertebral numbering variations can ...

    • Abnormal Striatal Dopamine Transmission in Schizophrenia 

      Brunelin, Jerome; Fecteau, Shirley; Suaud-Chagny, Marie-Françoise (Bentham Science Publishers, 2013)
      Despite numerous revisions and reformulations, dopamine (DA) hypothesis of schizophrenia remains a pivotal neurochemical hypothesis of this illness. The aim of this review is to expose and discuss findings from positron ...

    • Abnormal white matter microstructure and increased extracellular free-water in the cingulum bundle associated with delusions in chronic schizophrenia 

      Oestreich, Lena K.L.; Pasternak, Ofer; Shenton, Martha E.; Kubicki, Marek; Gong, Xue; McCarthy-Jones, Simon; Whitford, Thomas J. (Elsevier, 2016)
      Background: There is growing evidence to suggest that delusions associated with schizophrenia arise from altered structural brain connectivity. The present study investigated whether structural changes in three major ...

    • Abnormalities in personal space and parietal–frontal function in schizophrenia 

      Holt, Daphne J.; Boeke, Emily A.; Coombs, Garth; DeCross, Stephanie N.; Cassidy, Brittany S.; Stufflebeam, Steven; Rauch, Scott L.; Tootell, Roger B.H. (Elsevier, 2015)
      Schizophrenia is associated with subtle abnormalities in day-to-day social behaviors, including a tendency in some patients to “keep their distance” from others in physical space. The neural basis of this abnormality, and ...

    • Abnormalities of middle longitudinal fascicle and disorganization in patients with schizophrenia 

      Asami, Takeshi; Saito, Yukiko; Whitford, Thomas; Makris, Nikos; Niznikiewicz, Margaret A.; McCarley, Robert William; Shenton, Martha Elizabeth; Kubicki, Marek R. (Elsevier BV, 2013)
      Introduction—The Middle Longitudinal Fascicle (MdLF) is a long association fiber connecting the superior temporal gyrus (STG) and temporal pole with the angular gyrus through the white matter of the STG, structures which ...

    • Abnormalities of the Left Temporal Lobe and Thought Disorder in Schizophrenia 

      Shenton, Martha Elizabeth; Kikinis, Ron; Jolesz, Ferenc A.; Pollak, Seth D.; Lemay, Marjorie Jeannette; Wible, Cynthia Gayle; Hokama, Hiroto; Martin, John; Metcalf, Dave; Coleman, Michael James; McCarley, Robert William (New England Journal of Medicine (NEJM/MMS), 1992)
      BACKGROUND: Data from postmortem, CT, and magnetic resonance imaging (MRI) studies indicate that patients with schizophrenia may have anatomical abnormalities of the left temporal lobe, but it is unclear whether these ...

    • ABO blood group and incidence of epithelial ovarian cancer 

      Gates, Margaret A.; Wolpin, Brian M.; Cramer, Daniel William; Hankinson, Susan Elizabeth; Tworoger, Shelley Slate (Wiley-Blackwell, 2010)
      Previous studies have observed an association between ABO blood group and risk of certain malignancies, including ovarian cancer; however, no prospective studies of the association with ovarian cancer risk are available. ...

    • ABO Blood Group and Incidence of Skin Cancer 

      Xie, Jing; Qureshi, Abrar A.; Li, Yunhui; Han, Jiali (Public Library of Science, 2010)
      Background: Previous studies have examined the association between ABO blood group and the risk of some malignancies. However, no prospective cohort study to date has examined the association between ABO blood group and ...