Department of Medical and Molecular Genetics

Recent Submissions

  • Shah, Anuja; Miller, Clinton J.; Nast, Cynthia C.; Adams, Mark D.; Truitt, Barbara; Tayek, John A.; Tong, Lili; Mehtani, Parag; Monteon, Francisco; Sedor, John R.; Clinkenbeard, Erica L.; White, Kenneth; Mehrotra, Rajnish; LaPage, Janine; Dickson, Patricia; Adler, Sharon G.; Iyengar, Sudha K. (Oxford University Press, 2014-12)
    BACKGROUND: Tumoral calcinosis is an autosomal recessive disorder characterized by ectopic calcification and hyperphosphatemia. METHODS: We describe a family with tumoral calcinosis requiring amputations. The predominant ...
  • Mittal, Karuna; Choi, Da Hoon; Klimov, Sergey; Pawar, Shrikant; Kaur, Ramneet; Mitra, Anirban K.; Gupta, Meenakshi V.; Sams, Ralph; Cantuaria, Guilherme; Rida, Padmashree C. G.; Aneja, Ritu (BioMed Central, 2016)
    Background Amplified centrosomes are widely recognized as a hallmark of cancer. Although supernumerary centrosomes would be expected to compromise cell viability by yielding multipolar spindles that results in death-inducing ...
  • Foroud, Tatiana; Lai, Dongbing; Koller, Daniel; van’t Hof, Femke; Kurki, Mitja I.; Anderson, Craig S.; Brown, Robert D.; Connolly, E. Sander; Eriksson, Johan G.; Flaherty, Matthew; Fornage, Myriam; von und zuFraunberg, Mikael; Gaál, Emília I.; Laakso, Aki; Hernesniemi, Juha; Huston, John; Jääskeläinen, Juha E.; Kiemeney, Lambertus A.; Kivisaari, Riku; Kleindorfer, Dawn; Ko, Nerissa; Lehto, Hanna; Mackey, Jason; Meissner, Irene; Moomaw, Charles J.; Mosley, Thomas H.; Moskala, Marek; Niemelä, Mika; Palotie, Aarno; Pera, Joanna; Rinkel, Gabriel; Ripke, Stephan; Rouleau, Guy; Ruigrok, Ynte; Sauerbeck, Laura; Słowik, Agnieszka; Vermeulen, Sita H.; Woo, Daniel; Worrall, Bradford B.; Broderick, Joseph (Ovid Technologies Wolters Kluwer – American Heart Association, 2014-11)
    BACKGROUND AND PURPOSE: Common variants have been identified using genome-wide association studies which contribute to intracranial aneurysms (IA) susceptibility. However, it is clear that the variants identified to date ...
  • Tao, Chenqi; Zhang, Xin (Wiley Blackwell (John Wiley & Sons), 2014-12)
    Astrocytes represent the earliest glial population in the embryonic optic nerve, contributing critically to retinal angiogenesis and formation of brain-retinal-barrier. Despite of many developmental and clinical implications ...
  • Han, X.; Quinney, S. K.; Wang, Z.; Zhang, P.; Duke, J.; Desta, Z.; Elmendorf, J. S.; Flockhart, D. A.; Li, L. (Wiley Blackwell (John Wiley & Sons), 2015-09)
    Myopathy is a group of muscle diseases that can be induced or exacerbated by drug-drug interactions (DDIs). We sought to identify clinically important myopathic DDIs and elucidate their underlying mechanisms. Five DDIs ...
  • Alam, Khondoker; Pahwa, Sonia; Wang, Xueying; Zhang, Pengyue; Ding, Kai; Abuznait, Alaa H.; Li, Lang; Yue, Wei (ACS, 2016-03)
    Organic anion transporting polypeptide (OATP) 1B1 mediates the hepatic uptake of many drugs including lipid-lowering statins. Decreased OATP1B1 transport activity is often associated with increased systemic exposure of ...
  • Wang, Guohua; Liu, Yunlong; Zhu, Dongxiao; Klau, Gunnar W.; Feng, Weixing (Hindawi, 2015-09-07)
  • Jun, Gyungah; Asai, Hirohide; Zeldich, Ella; Drapeau, Elodie; Chen, CiDi; Chung, Jaeyoon; Park, Jong-Ho; Kim, Sehwa; Haroutunian, Vahram; Foroud, Tatiana; Kuwano, Ryozo; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Lunetta, Kathryn L.; Kim, Jong-Won; Buxbaum, Joseph D.; Mayeux, Richard; Ikezu, Tsuneya; Abraham, Carmela R.; Farrer, Lindsay A. (Wiley Blackwell (John Wiley & Sons), 2014-09)
    OBJECTIVE: Much of the genetic basis for Alzheimer disease (AD) is unexplained. We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor ...
  • Lombardi, Anne J.; Hoskins, Elizabeth E.; Foglesong, Grant D.; Wikenheiser-Brokamp, Kathryn A.; Wiesmüller, Lisa; Hanenberg, Helmut; Andreassen, Paul R.; Jacobs, Allison J.; Olson, Susan B.; Keeble, Winifred W.; Hays, Laura E.; Wells, Susanne I. (American Association for Cancer Research, 2015-04-15)
    PURPOSE: Fanconi anemia is an inherited disorder associated with a constitutional defect in the Fanconi anemia DNA repair machinery that is essential for resolution of DNA interstrand crosslinks. Individuals with Fanconi ...
  • Murali, Sathish K.; Andrukhova, Olena; Clinkenbeard, Erica L.; White, Kenneth E.; Erben, Reinhold G. (Public Library of Science (PLoS), 2016-04)
    X-linked hypophosphatemia (XLH) is the most frequent form of inherited rickets in humans caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX). Hyp mice, a murine ...
  • Lahiri, Debomoy K.; Maloney, Bryan; Long, Justin M.; Greig, Nigel H. (Elsevier, 2014-10)
    Alzheimer's disease (AD) is characterized by formation of neuritic plaque primarily composed of a small filamentous protein called amyloid-β peptide (Aβ). The rate-limiting step in the production of Aβ is the processing ...
  • Gordon, Christopher T.; Weaver, K. Nicole; Zechi-Ceide, Roseli Maria; Madsen, Erik C.; Tavares, Andre L.P.; Oufadem, Myriam; Kurihara, Yukiko; Adameyko, Igor; Picard, Arnaud; Breton, Sylvain; Pierrot, Se´bastien; Biosse-Duplan, Martin; Voisin, Norine; Masson, Cecile; Bole-Feysot, Christine; Nitschke´, Marie-Ange; Lacombe, Didier; Guion-Almeida, Maria Leine; Moura, Priscila Padilha; Garib, Daniela Gamba; Munnich, Arnold; Ernfors, Patrik; Hufnagel, Robert B.; Hopkin, Robert J.; Kurihara, Hiroki; Saal, Howard M.; Weaver, David D.; Katsanis, Nicholas; Lyonnet, Stanislas; Golzio, Christelle; Clouthier, David E.; Amiel, Jeanne (Elsevier, 2015-04-02)
    The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch. We report four unrelated individuals with the syndrome ...
  • Aliev, Fazil; Wetherill, Leah; Bierut, Laura; Bucholz, Kathleen K.; Edenberg, Howard; Foroud, Tatiana; Dick, Danielle M. (JSAD, 2015-01)
    OBJECTIVE: The purpose of this study was to evaluate evidence for association with a panel of genes previously associated with alcohol-related traits in a new sample of adolescent and young adult individuals (N = 2,128; ...
  • Correia, Rion Brattig; Li, Lang; Rocha, Luis M. (eProceedings, 2016)
    Much recent research aims to identify evidence for Drug-Drug Interactions (DDI) and Adverse Drug reactions (ADR) from the biomedical scientific literature. In addition to this "Bibliome", the universe of social media ...
  • Foroud, Tatiana; Smith, Danielle; Jackson, Jacqueline; Verbrugge, Jennifer; Halter, Cheryl; Wetherill, Leah; Sims, Katherine; Xin, Winnie; Arnedo, Vanessa; Lasch, Shirley; Marek, Kenneth (Wiley Online Library, 2015-09)
    The LRRK2 G2019S mutation is found at higher frequency among Parkinson disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet-based approach could be an effective ...
  • Liang, Tiebing; Spence, John P.; Foroud, Tatiana; Ellison, Julie A.; Lumeng, Lawrence; Li, Ting-Kai; Carr, Lucinda G. (Wiley Online Library, 2004-11)
    OBJECTIVE: A primary focus of alcohol research is to provide novel targets for alcohol treatment by identifying genes that predispose individuals to drink alcohol. Animal models of alcoholism developed by selective ...
  • Zhang, Xin; Mysore, Keshava; Flannery, Ellen; Michel, Kristin; Severson, David W.; Zhu, Kun Yan; Duman-Scheel, Molly (JOVE, 2015-03-25)
    Vector mosquitoes inflict more human suffering than any other organism-and kill more than one million people each year. The mosquito genome projects facilitated research in new facets of mosquito biology, including functional ...
  • Farlow, Janice L.; Lin, Hai; Sauerbeck, Laura; Lai, Dongbing; Koller, Daniel L.; Pugh, Elizabeth; Hetrick, Kurt; Ling, Hua; Kleinloog, Rachel; van der Vlies, Peter; Deelen, Patrick; Swertz, Morris A.; Verweij, Bon H.; Regli, Luca; Rinkel, Gabriel J.E.; Ruigrok, Ynte M.; Doheny, Kimberly; Liu, Yunlong; Broderick, Joseph; Foroud, Tatiana (PLoS, 2015-03-24)
    Genetic risk factors for intracranial aneurysm (IA) are not yet fully understood. Genomewide association studies have been successful at identifying common variants; however, the role of rare variation in IA susceptibility ...
  • Kolchinsky, Artemy; Lourenço, Anália; Wu, Heng-Yi; Li, Lang; Rocha, Luis M. (PLoS, 2015-05-11)
    Drug-drug interaction (DDI) is a major cause of morbidity and mortality and a subject of intense scientific interest. Biomedical literature mining can aid DDI research by extracting evidence for large numbers of potential ...
  • Mourad, Raphael; Hsu, Pei-Yin; Juran, Liran; Shen, Changyu; Koneru, Prasad; Lin, Hai; Liu, Yunlong; Nephew, Kenneth; Huang, Tim H.; Li, Lang (PLoS, 2014-12-03)
    In the cell nucleus, each chromosome is confined to a chromosome territory. This spatial organization of chromosomes plays a crucial role in gene regulation and genome stability. An additional level of organization has ...

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