Browsing Harvard Medical School by Title

Now showing items 7121-7140 of 18442

    • Genome Wide Association Study of Age at Menarche in the Japanese Population 

      Tanikawa, Chizu; Okada, Yukinori; Takahashi, Atsushi; Oda, Katsutoshi; Kamatani, Naoyuki; Kubo, Michiaki; Nakamura, Yusuke; Matsuda, Koichi (Public Library of Science, 2013)
      Age at menarche (AAM) is a complex trait involving both genetic and environmental factors. To identify the genetic factors associated with AAM, we conducted a large-scale meta-analysis of genome-wide association studies ...

    • Genome-Encoded Cytoplasmic Double-Stranded RNAs, Found in C9ORF72 ALS-FTD Brain, Propagate Neuronal Loss 

      Rodriguez, Steve; Sahin, Asli; Schrank, Benjamin R.; Al Lawati, Hawra; Costantino, Isabel; Benz, Eric; Fard, Darian; Albers, Alefiya; Cao, Luxiang; Gomez, Alexis; Evans, Kyle; Ratti, Elena; Cudkowicz, Merit; Frosch, Matthew; Talkowski, Michael; Sorger, Peter; Hyman, Bradley; Albers, Mark (Science Press / AAAS, 2021-07-07)
      Triggers of innate immune signaling in the CNS of amyotrophic lateral sclerosis and frontotemporal degeneration (ALS/FTD) patients remain elusive. We report the presence of cytoplasmic double-stranded RNA (cdsRNA), an ...

    • Genome-scale engineering for systems and synthetic biology 

      Esvelt, Kevin Michael; Wang, Harris H (Nature Publishing Group, 2013)
      Genome-modification technologies enable the rational engineering and perturbation of biological systems. Historically, these methods have been limited to gene insertions or mutations at random or at a few pre-defined ...

    • Genome-Scale in Vivo CRISPR Screen Identifies RNLS as a Target for Beta Cell Protection in Type 1 Diabetes 

      Cai, Erica P.; Ishikawa, Yuki; Zhang, Wei; de Carvalho Leite, Nayara; Li, Jian; Hou, Shurong; Kiaf, Badr; Hollister-Lock, Jennifer; Yilmaz, Nese Kurt; Schiffer, Celia A.; Melton, Douglas; Kissler, Stephan; Yi, Peng (Springer Science and Business Media LLC, 2020-07-27)
      Type 1 diabetes (T1D) is caused by the autoimmune destruction of pancreatic beta cells. Pluripotent stem cells can now be differentiated into beta cells, raising the prospect of a cell replacement therapy for T1D. However, ...

    • Genome-Scale Promoter Engineering by Coselection MAGE 

      Wang, Harris He; Kim, Hwangbeom; Cong, Le; Jeong, Jaehwan; Bang, Duhee; Church, George McDonald (Nature Publishing Group, 2012)
      Multiplex Automated Genome Engineering (MAGE) employs short oligonucleotides to scarlessly modify genomes. However, insertions of >10 bases are still inefficient, but can be improved substantially by selection of highly ...

    • Genome-scale Proteome Quantification by DEEP SEQ Mass Spectrometry 

      Zhou, Feng; Lu, Yu; Ficarro, Scott B.; Adelmant, Guillaume; Jiang, Wenyu; Luckey, C. John; Marto, Jarrod A. (2013)
      Advances in chemistry and massively parallel detection underlie DNA sequencing platforms that are poised for application in personalized medicine. In stark contrast, systematic generation of protein-level data lags well-behind ...

    • A Genome-Scale shRNA Resource for Transgenic RNAi in Drosophila 

      Ni, Jian-Quan; Zhou, Rui; Czech, Benjamin; Liu, Lu-Ping; Holderbaum, Laura; Yang-Zhou, Donghui; Shim, Hye-Seok; Tao, Rong; Handler, Dominik; Karpowicz, Phillip; Binari, Richard; Booker, Matthew; Brennecke, Julius; Perkins, Lizabeth A.; Hannon, Gregory J.; Perrimon, Norbert (Springer Science and Business Media LLC, 2011-05)
      Existing transgenic RNAi resources in Drosophila melanogaster based on long double-stranded hairpin RNAs are powerful tools for functional studies, but they are ineffective in gene knockdown during oogenesis, an important ...

    • A genome-to-genome analysis of associations between human genetic variation, HIV-1 sequence diversity, and viral control 

      Bartha, István; Carlson, Jonathan M; Brumme, Chanson J; McLaren, Paul J; Brumme, Zabrina L; John, Mina; Haas, David W; Martinez-Picado, Javier; Dalmau, Judith; López-Galíndez, Cecilio; Casado, Concepción; Rauch, Andri; Günthard, Huldrych F; Bernasconi, Enos; Vernazza, Pietro; Klimkait, Thomas; Yerly, Sabine; O’Brien, Stephen J; Listgarten, Jennifer; Pfeifer, Nico; Lippert, Christoph; Fusi, Nicolo; Kutalik, Zoltán; Allen, Todd M; Müller, Viktor; Harrigan, P Richard; Heckerman, David; Telenti, Amalio; Fellay, Jacques (eLife Sciences Publications, Ltd, 2013)
      HIV-1 sequence diversity is affected by selection pressures arising from host genomic factors. Using paired human and viral data from 1071 individuals, we ran >3000 genome-wide scans, testing for associations between host ...

    • Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia 

      Wang, Xiu-Xia; Sun, Bao-Fa; Jiao, Jiao; Chong, Ze-Chen; Chen, Yu-Shen; Wang, Xiao-Li; Zhao, Yue; Zhou, Yi-Ming; Li, Da (Impact Journals LLC, 2015)
      Discovery of 5-hydroxymethylcytosine (5hmC) in mammalian genomes has excited the field of epigenetics, but information on the genome-wide distribution of 5hmC is limited. Globozoospermia is a rare but severe cause of male ...

    • Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B 

      Karlsson, Elinor K; Sigurdsson, Snaevar; Ivansson, Emma; Thomas, Rachael; Elvers, Ingegerd; Wright, Jason; Howald, Cedric; Tonomura, Noriko; Perloski, Michele; Swofford, Ross; Biagi, Tara; Fryc, Sarah; Anderson, Nathan; Courtay-Cahen, Celine; Youell, Lisa; Ricketts, Sally L; Mandlebaum, Sarah; Rivera, Patricio; von Euler, Henrik; Kisseberth, William C; London, Cheryl A; Lander, Eric S; Couto, Guillermo; Comstock, Kenine; Starkey, Mike P; Modiano, Jaime F; Breen, Matthew; Lindblad-Toh, Kerstin (BioMed Central, 2013)
      Background: Canine osteosarcoma is clinically nearly identical to the human disease, but is common and highly heritable, making genetic dissection feasible. Results: Through genome-wide association analyses in three breeds ...

    • Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium 

      Johnatty, S. E.; Tyrer, J. P.; Kar, S.; Beesley, J.; Lu, Y.; Gao, B.; Fasching, P. A.; Hein, A.; Ekici, A. B.; Beckmann, M. W.; Lambrechts, D.; Van Nieuwenhuysen, E.; Vergote, I.; Lambrechts, S.; Rossing, M. A.; Doherty, J. A.; Chang-Claude, J.; Modugno, F.; Ness, R. B.; Moysich, K. B.; Levine, D. A.; Kiemeney, L. A.; Massuger, L. F. A. G.; Gronwald, J.; Lubinski, J.; Jakubowska, A.; Cybulski, C.; Brinton, L.; Lissowska, J.; Wentzensen, N.; Song, H.; Rhenius, V.; Campbell, I.; Eccles, D.; Sieh, W.; Whittemore, A. S.; McGuire, V.; Rothstein, J. H.; Sutphen, R.; Anton-Culver, H.; Ziogas, A.; Gayther, S. A.; Gentry-Maharaj, A.; Menon, U.; Ramus, S. J.; Pearce, C. L.; Pike, M. C.; Stram, D. O.; Wu, A. H.; Kupryjanczyk, J.; Dansonka-Mieszkowska, A.; Rzepecka, I. K.; Spiewankiewicz, B.; Goodman, M. T.; Wilkens, L. R.; Carney, M. E.; Thompson, P. J.; Heitz, F.; du Bois, A.; Schwaab, I.; Harter, P.; Pisterer, J.; Hillemanns, P.; Karlan, B. Y.; Walsh, C.; Lester, J.; Orsulic, S.; Winham, S. J.; Earp, M.; Larson, M. C.; Fogarty, Z. C.; Hogdall, E.; Jensen, A.; Kjaer, S. K.; Fridley, B. L.; Cunningham, J. M.; Vierkant, R. A.; Schildkraut, J. M.; Iversen, E. S.; Terry, Kathryn Lynne; Cramer, Daniel William; Bandera, E. V.; Orlow, I.; Pejovic, T.; Bean, Y.; Hogdall, C.; Lundvall, L.; McNeish, I.; Paul, J.; Carty, K.; Siddiqui, N.; Glasspool, R.; Sellers, T.; Kennedy, C.; Chiew, Y.-E.; Berchuck, A.; MacGregor, S.; Pharoah, P. D. P.; Goode, E. L.; deFazio, A.; Webb, P. M.; Chenevix-Trench, G. (American Association for Cancer Research (AACR), 2015)
      PURPOSE: Chemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymorphisms might be associated with clinical outcome. EXPERIMENTAL DESIGN: We analyzed ...

    • Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3 

      Williams, Nigel M.; Franke, Barbara; Mick, Eric; Anney, Richard J.L.; Freitag, Christine M.; Gill, Michael; Thapar, Anita; O'Donovan, Michael C.; Owen, Michael J.; Holmans, Peter; Kent, Lindsey; Middleton, Frank; Zhang-James, Yanli; Liu, Lu; Meyer, Jobst; Nguyen, Thuy Trang; Romanos, Jasmin; Romanos, Marcel; Seitz, Christiane; Renner, Tobias J.; Walitza, Susanne; Warnke, Andreas; Palmason, Haukur; Buitelaar, Jan; Rommelse, Nanda; Vasquez, Alejandro Arias; Hawi, Ziarih; Langley, Kate; Sergeant, Joseph; Steinhausen, Hans-Christoph; Roeyers, Herbert; Biederman, Joseph; Zaharieva, Irina; Hakonarson, Hakon; Elia, Josephine; Lionel, Anath C.; Crosbie, Jennifer; Marshall, Christian R.; Schachar, Russell; Scherer, Stephen W.; Todorov, Alexandre; Smalley, Susan L.; Loo, Sandra; Nelson, Stanley; Shtir, Corina; Asherson, Philip; Reif, Andreas; Lesch, Klaus-Peter; Faraone, Stephen V. (American Psychiatric Publishing, 2013)
      Objective: Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors ...

    • Genome-Wide Analysis of DNA Methylation and Cigarette Smoking in a Chinese Population 

      Zhu, Xiaoyan; Li, Jun; Deng, Siyun; Yu, Kuai; Liu, Xuezhen; Deng, Qifei; Sun, Huizhen; Zhang, Xiaomin; He, Meian; Guo, Huan; Chen, Weihong; Yuan, Jing; Zhang, Bing; Kuang, Dan; He, Xiaosheng; Bai, Yansen; Han, Xu; Liu, Bing; Li, Xiaoliang; Yang, Liangle; Jiang, Haijing; Zhang, Yizhi; Hu, Jie; Cheng, Longxian; Luo, Xiaoting; Mei, Wenhua; Zhou, Zhiming; Sun, Shunchang; Zhang, Liyun; Liu, Chuanyao; Guo, Yanjun; Zhang, Zhihong; Hu, Frank B.; Liang, Liming; Wu, Tangchun (National Institute of Environmental Health Sciences, 2016)
      Background: Smoking is a risk factor for many human diseases. DNA methylation has been related to smoking, but genome-wide methylation data for smoking in Chinese populations is limited. Objectives: We aimed to investigate ...

    • Genome-Wide Analysis of ETS-Family DNA-Binding In Vitro and In Vivo 

      Wei, Gong-Hong; Badis, Gwenael; Berger, Michael F; Kivioja, Teemu; Palin, Kimmo; Enge, Martin; Bonke, Martin; Jolma, Arttu; Varjosalo, Markku; Gehrke, Andrew R; Yan, Jian; Talukder, Shaheynoor; Turunen, Mikko; Taipale, Mikko; Stunnenberg, Hendrik G; Ukkonen, Esko; Hughes, Timothy R; Taipale, Jussi; Bulyk, Martha Leonia (Nature Publishing Group, 2010)
      Members of the large ETS family of transcription factors (TFs) have highly similar DNA-binding domains (DBDs)—yet they have diverse functions and activities in physiology and oncogenesis. Some differences in DNA-binding ...

    • Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci 

      Smith, D J; Escott-Price, V; Davies, G; Bailey, M E S; Colodro-Conde, L; Ward, J; Vedernikov, A; Marioni, R; Cullen, B; Lyall, D; Hagenaars, S P; Liewald, D C M; Luciano, M; Gale, C R; Ritchie, S J; Hayward, C; Nicholl, B; Bulik-Sullivan, B; Adams, M; Couvy-Duchesne, B; Graham, N; Mackay, D; Evans, J; Smith, B H; Porteous, D J; Medland, S E; Martin, N G; Holmans, P; McIntosh, A M; Pell, J P; Deary, I J; O'Donovan, M C (Nature Publishing Group, 2016)
      Neuroticism is a personality trait of fundamental importance for psychological well-being and public health. It is strongly associated with major depressive disorder (MDD) and several other psychiatric conditions. Although ...

    • Genome-Wide Analysis of Survival in Early-Stage Non–Small-Cell Lung Cancer 

      Huang, Yen-Tsung; Suk Heist, Rebecca; Chirieac, Lucian; Lin, Xihong; Skaug, Vidar; Zienolddiny, Shanbeh; Haugen, Aage; Wu, Michael C.; Wang, Zhaoxi; Su, Li; Asomaning, Kofi; Christiani, David (American Society of Clinical Oncology (ASCO), 2009-06-01)
      Purpose Lung cancer, of which 85% is non–small-cell (NSCLC), is the leading cause of cancer-related death in the United States. We used genome-wide analysis of tumor tissue to investigate whether single nucleotide ...

    • A Genome-wide analysis of the response to inhaled beta2-agonists in Chronic Obstructive Pulmonary Disease 

      Hardin, Megan; Cho, Michael H.; McDonald, Merry-Lynn; Wan, Emily; Lomas, David A.; Coxson, Harvey O.; MacNee, William; Vestbo, Jørgen; Yates, Julie C.; Agusti, Alvar; Calverley, Peter MA; Celli, Bartolome; Crim, Courtney; Rennard, Stephen; Wouters, Emiel; Bakke, Per; Bhatt, Surya P; Kim, Victor; Ramsdell, Joe; Regan, Elizabeth A.; Make, Barry J.; Hokanson, John E.; Crapo, James D.; Beaty, Terri H.; Hersh, Craig P. (2015)
      Short-acting β2-agonist bronchodilators are the most common medications used in treating chronic obstructive pulmonary disease (COPD). Genetic variants determining bronchodilator responsiveness (BDR) in COPD have not been ...

    • Genome-wide Analysis of YY2 Versus YY1 Target Genes 

      Chen, Li; Shioda, Toshihiro; Coser, Kathryn R.; Lynch, Mary C.; Yang, Chuanwei; Schmidt, Emmett Vance (Oxford University Press, 2010)
      Yin Yang 1 (YY1) is a critical transcription factor controlling cell proliferation, development and DNA damage responses. Retrotranspositions have independently generated additional YY family members in multiple species. ...

    • Genome-wide analysis reveals mechanisms modulating autophagy in normal brain aging and in Alzheimer's disease 

      Lipinski, Marta M.; Zheng, Bin; Lu, Tao; Yan, Zhenyu; Py, Bénédicte F.; Ng, Aylwin; Xavier, Ramnik J.; Li, Cheng; Yankner, Bruce A.; Scherzer, Clemens R.; Yuan, Junying (National Academy of Sciences, 2010)
      Dysregulation of autophagy, a cellular catabolic mechanism essential for degradation of misfolded proteins, has been implicated in multiple neurodegenerative diseases. However, the mechanisms that lead to the autophagy ...

    • Genome-wide analysis reveals TET-and TDG-mediated 5-methylcytosine oxidation dynamics 

      Shen, Li; Wu, Hao; Diep, Dinh; D’Alessio, Ana C; Fung, Alan; Zhang, Kun; Zhang, Yi (BioMed Central, 2013)