Now showing items 1-7 of 7

    • Alzheimer's Disease Amyloid-\(\beta\) Links Lens and Brain Pathology in Down Syndrome 

      Moncaster, Juliet A.; Lu, Suqian; Burton, Mark A.; Ghosh, Joy G.; Soscia, Stephanie J.; Mocofanescu, Anca; Kuszak, Jer R.; Pineda, Roberto; Moir, Robert D.; Ericsson, Maria; Folkerth, Rebecca Dunn; Robb, Richard Moore; Clark, John I.; Tanzi, Rudolph Emile; Hunter, David; Goldstein, Lee David (Public Library of Science, 2010)
      Down syndrome (DS, trisomy 21) is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans. In DS, triplication of chromosome 21 invariably includes the APP gene (21q21) ...
    • Assessing Binocular Interaction in Amblyopia and Its Clinical Feasibility 

      Kwon, MiYoung; Lu, Zhong-Lin; Miller, Alexandra; Kazlas, Melanie; Hunter, David G.; Bex, Peter J. (Public Library of Science, 2014)
      Purpose To measure binocular interaction in amblyopes using a rapid and patient-friendly computer-based method, and to test the feasibility of the assessment in the clinic. Methods: Binocular interaction was assessed in ...
    • Fat Mass–and Obesity-Associated (FTO) Gene Variant Is Associated With Obesity 

      Qi, Lu; Kang, Kihwa; Zhang, Cuilin; van Dam, Rob M.; Kraft, Peter; Hunter, David; Lee, Chih-Hao; Hu, Frank B. (American Diabetes Association, 2008)
      OBJECTIVE—To examine the longitudinal association of fat mass–and obesity-associated (FTO) variant with obesity, circulating adipokine levels, and FTO expression in various materials from human and mouse. RESEARCH DESIGN ...
    • A Prospective Study of Plasma Vitamin D Metabolites, Vitamin D Receptor Polymorphisms, and Prostate Cancer 

      Li, Haojie; Stampfer, Meir; Hollis, J. Bruce W.; Mucci, Lorelei Ann; Gaziano, John Michael; Hunter, David; Giovannucci, Edward L.; Ma, Jing (Public Library of Science, 2007)
      Background: Vitamin D insufficiency is a common public health problem nationwide. Circulating 25-hydroxyvitamin D3 (25[OH]D), the most commonly used index of vitamin D status, is converted to the active hormone 1,25 ...
    • Three Novel Mutations in KIF21A Highlight the Importance of the Third Coiled-Coil Stalk Domain in the Etiology of CFEOM1 

      Dragan, Laryssa; Fredrick, Douglas; Armstrong, Linlea; Lyons, Christopher; Geraghty, Michael T; Yazdani, Ahmad; Traboulsi, Elias I; Pott, Jan WR; Gutowski, Nicholas J; Ellard, Sian; Young, Elizabeth; Hanisch, Frank; Koc, Feray; Schnall, Bruce; Chan, Wai-Man; Andrews, Caroline; Hunter, David; Engle, Elizabeth Carson (BioMed Central, 2007)
      Background: Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously ...
    • Two uniqueTUBB3mutations cause both CFEOM3 and malformations of cortical development 

      Whitman, Mary Catherine; Andrews, Caroline; Chan, Wai-Man; Tischfield, Max A.; Stasheff, Steven F.; Brancati, Francesco; Ortiz-Gonzalez, Xilma; Nuovo, Sara; Garaci, Francesco; MacKinnon, Sarah E.; Hunter, David; Grant, P. Ellen; Engle, Elizabeth Carson (Wiley, 2015)
      One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic ...
    • Vitamin D Status of HIV-Infected Women and Its Association with HIV Disease Progression, Anemia, and Mortality 

      Mehta, Saurabh; Giovannucci, Edward L.; Mugusi, Ferdinand M.; Spiegelman, Donna Lynn; Aboud, Said; Hertzmark, Ellen; Msamanga, Gernard I.; Hunter, David; Fawzi, Wafaie W. (Public Library of Science, 2010)
      Background: Vitamin D has a potential role in slowing HIV disease progression and preventing mortality based on its extensive involvement in the immune system; however, this relationship has not been examined in large ...