Department of Medical and Molecular Genetics Articles

 

Recent Submissions

  • Celestino-Soper, Patrícia B. S.; Doytchinova, Anisiia; Steiner, Hillel A.; Uradu, Andrea; Lynnes, Ty C.; Groh, William J.; Miller, John M.; Lin, Hai; Gao, Hongyu; Wang, Zhiping; Liu, Yunlong; Chen, Peng-Sheng; Vatta, Matteo (Public Library of Science (PloS), 2015)
    BACKGROUND: The etiology of conduction disturbances necessitating permanent pacemaker (PPM) implantation is often unknown, although familial aggregation of PPM (faPPM) suggests a possible genetic basis. We developed a ...
  • Haley, James; Tomar, Sunil; Pulliam, Nicholas; Xiong, Sen; Perkins, Susan M.; Karpf, Adam R.; Mitra, Sumegha; Nephew, Kenneth P.; Mitra, Anirban K. (Impact Journals, 2016-05-31)
    Genomic analysis of ovarian cancer cell lines has revealed a panel that best represents the most common ovarian cancer subtype, high-grade serous ovarian cancer (HGSOC). However, these HGSOC-like cell lines have not been ...
  • Butler, Merlin G. (Elsevier, 1981-09)
    The frequencies of sister-chromatid exchanges (SCE) were investigated in lymphocytes in 32 normal adult individuals of both sexes with no interracial familial backgrounds from Caucasian, American black, oriental and native ...
  • Ramanan, Vijay K.; Risacher, Shannon L.; Nho, Kwangsik; Kim, Sungeun; Shen, Li; McDonald, Brenna C.; Yoder, Karmen K.; Hutchins, Gary D.; West, John D.; Tallman, Eileen F.; Gao, Sujuan; Foroud, Tatiana M.; Farlow, Martin R.; De Jager, Philip L.; Bennett, David A.; Aisen, Paul S.; Petersen, Ronald C.; Jack, Clifford R.; Toga, Arthur W.; Green, Robert C.; Jagust, William J.; Weiner, Michael W.; Saykin, Andrew J. (Oxford UP, 2015-10)
    In a genome-wide study, Ramanan et al. discover an association between the microglial activation gene IL1RAP and higher rates of amyloid plaque accumulation as measured by PET in prodromal Alzheimer’s disease. Activated ...
  • Li, Lang (Wiley, 2015-10)
    The field of bioinformatics has allowed the interpretation of massive amounts of biological data, ushering in the era of ‘omics’ to biomedical research. Its potential impact on pharmacology research is enormous and it has ...
  • 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 ...

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