Now showing items 7094-7113 of 17918

    • Genomic DNA Sequences from Mastodon and Woolly Mammoth Reveal Deep Speciation of Forest and Savanna Elephants 

      Green, Richard E.; Georgiadis, Nicholas J.; Roca, Alfred L.; Hofreiter, Michael; Penny, David; Rohland, Nadin; Reich, David Emil; Mallick, Swapan; Meyer, Matthias (Public Library of Science, 2010)
      To elucidate the history of living and extinct elephantids, we generated 39,763 bp of aligned nuclear DNA sequence across 375 loci for African savanna elephant, African forest elephant, Asian elephant, the extinct American ...
    • Genomic DNA transposition induced by human PGBD5 

      Henssen, Anton G; Henaff, Elizabeth; Jiang, Eileen; Eisenberg, Amy R; Carson, Julianne R; Villasante, Camila M; Ray, Mondira; Still, Eric; Burns, Melissa; Gandara, Jorge; Feschotte, Cedric; Mason, Christopher E; Kentsis, Alex (eLife Sciences Publications, Ltd, 2015)
      Transposons are mobile genetic elements that are found in nearly all organisms, including humans. Mobilization of DNA transposons by transposase enzymes can cause genomic rearrangements, but our knowledge of human genes ...
    • Genomic imprinting of Xist by maternal H3K27me3 

      Inoue, Azusa; Jiang, Lan; Lu, Falong; Zhang, Yi (Cold Spring Harbor Laboratory, 2017-10-01)
      Maternal imprinting at the Xist gene is essential to achieve paternal allele-specific imprinted X-chromosome inactivation (XCI) in female mammals. However, the mechanism underlying Xist imprinting is unclear. Here we show ...
    • Genomic insights into the formation of human populations in East Asia 

      Reich, David (Springer Science and Business Media LLC, 2021-02-22)
      The deep population history of East Asia remains poorly understood due to a lack of ancient DNA data and sparse sampling of present-day people. We report genome-wide data from 166 East Asians dating to 6000 BCE – 1000 CE ...
    • Genomic investigation of etiologic heterogeneity: methodologic challenges 

      Begg, Colin B; Seshan, Venkatraman E; Zabor, Emily C; Furberg, Helena; Arora, Arshi; Shen, Ronglai; Maranchie, Jodi K; Nielsen, Matthew E; Rathmell, W Kimryn; Signoretti, Sabina; Tamboli, Pheroze; Karam, Jose A; Choueiri, Toni K; Hakimi, A Ari; Hsieh, James J (BioMed Central, 2014)
      Background: The etiologic heterogeneity of cancer has traditionally been investigated by comparing risk factor frequencies within candidate sub-types, defined for example by histology or by distinct tumor markers of interest. ...
    • The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis 

      Gibson, William J.; Hoivik, Erling A.; Halle, Mari K.; Taylor-Weiner, Amaro; Cherniack, Andrew D.; Berg, Anna; Holst, Frederik; Zack, Travis I.; Werner, Henrica M. J.; Staby, Kjersti M.; Rosenberg, Mara; Stefansson, Ingunn M.; Kusonmano, Kanthida; Chevalier, Aaron; Mauland, Karen K.; Trovik, Jone; Krakstad, Camilla; Giannakis, Marios; Hodis, Eran; Woie, Kathrine; Bjorge, Line; Vintermyr, Olav K.; Wala, Jeremiah A.; Lawrence, Michael S.; Getz, Gad; Carter, Scott L.; Beroukhim, Rameen; Salvesen, Helga B. (2016)
      Recent studies have detailed the genomic landscape of primary endometrial cancers, but their evolution into metastases has not been characterized. We performed whole-exome sequencing of 98 tumor biopsies including complex ...
    • The Genomic Landscape of Juvenile Myelomonocytic Leukemia 

      Stieglitz, Elliot; Taylor-Weiner, Amaro N.; Chang, Tiffany Y.; Gelston, Laura C.; Wang, Yong-Dong; Mazor, Tali; Esquivel, Emilio; Yu, Ariel; Seepo, Sara; Olsen, Scott; Rosenberg, Mara; Archambeault, Sophie L.; Abusin, Ghada; Beckman, Kyle; Brown, Patrick A.; Briones, Michael; Carcamo, Benjamin; Cooper, Todd; Dahl, Gary V.; Emanuel, Peter D.; Fluchel, Mark N.; Goyal, Rakesh K.; Hayashi, Robert J.; Hitzler, Johann; Hugge, Christopher; Liu, Y. Lucy; Messinger, Yoav H.; Mahoney, Donald H.; Monteleone, Philip; Nemecek, Eneida R.; Roehrs, Philip A.; Schore, Reuven J.; Stine, Kimo C.; Takemoto, Clifford M.; Toretsky, Jeffrey A.; Costello, Joseph F.; Olshen, Adam B.; Stewart, Chip; Li, Yongjin; Ma, Jing; Gerbing, Robert B.; Alonzo, Todd A.; Getz, Gad; Gruber, Tanja; Golub, Todd; Stegmaier, Kimberly; Loh, Mignon L. (2015)
      Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 and CBL occur in 85% of patients, yet there are currently no risk ...
    • Genomic landscape of pediatric adrenocortical tumors 

      Pinto, Emilia M.; Chen, Xiang; Easton, John; Finkelstein, David; Liu, Zhifa; Pounds, Stanley; Rodriguez-Galindo, Carlos; Lund, Troy C.; Mardis, Elaine R.; Wilson, Richard K.; Boggs, Kristy; Yergeau, Donald; Cheng, Jinjun; Mulder, Heather L.; Manne, Jayanthi; Jenkins, Jesse; Mastellaro, Maria J.; Figueiredo, Bonald C.; Dyer, Michael A.; Pappo, Alberto; Zhang, Jinghui; Downing, James R.; Ribeiro, Raul C.; Zambetti, Gerard P. (2015)
      Pediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here we analyze 37 adrenocortical tumors (ACTs) by whole genome, whole exome and/or transcriptome sequencing. Most cases (91%) show loss of ...
    • The Genomic Landscape of Prostate Cancer 

      Baca, Sylvan Charles; Garraway, Levi Alexander (Frontiers Research Foundation, 2012)
      Prostate cancer is a common malignancy in men, with a markedly variable clinical course. Somatic alterations in DNA drive the growth of prostate cancers and may underlie the behavior of aggressive versus indolent tumors. ...
    • Genomic mapping of RNA polymerase II reveals sites of co-transcriptional regulation in human cells 

      Brodsky, Alexander S; Meyer, Clifford; Swinburne, Ian A; Hall, Giles; Keenan, Benjamin J; Liu, Xiaole Shirley; Fox, Edward Alvin; Silver, Pamela A. (BioMed Central, 2005)
      Background: Transcription by RNA polymerase II is regulated at many steps including initiation, promoter release, elongation and termination. Accumulation of RNA polymerase II at particular locations across genes can be ...
    • Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin, a Novel Intermediate Filament Protein on Chromosome 15q26.3 

      Mizuno, Yuji; Puca, Annibale A; O'Brien, Kristine F; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...
    • Genomic prediction of coronary heart disease 

      Abraham, Gad; Havulinna, Aki S.; Bhalala, Oneil G.; Byars, Sean G.; De Livera, Alysha M.; Yetukuri, Laxman; Tikkanen, Emmi; Perola, Markus; Schunkert, Heribert; Sijbrands, Eric J.; Palotie, Aarno; Samani, Nilesh J.; Salomaa, Veikko; Ripatti, Samuli; Inouye, Michael (Oxford University Press, 2016)
      Aims Genetics plays an important role in coronary heart disease (CHD) but the clinical utility of genomic risk scores (GRSs) relative to clinical risk scores, such as the Framingham Risk Score (FRS), is unclear. Our aim ...
    • Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency 

      Das, Anirban; Sudhaman, Sumedha; Morgenstern, Daniel; Coblentz, Ailish; Chung, Jiil; Stone, Simone C.; Alsafwani, Noor; Liu, Zhihui Amy; Karsaneh, Ola Abu Al; Soleimani, Shirin; Ladany, Hagay; Chen, David; Zatzman, Matthew; Cabric, Vanja; Nobre, Liana; Bianchi, Vanessa; Edwards, Melissa; Sambira Nahum, Lauren C,; Ercan, Ayse B.; Nabbi, Arash; Constantini, Shlomi; Dvir, Rina; Yalon-Oren, Michal; Campino, Gadi Abebe; Caspi, Shani; Larouche, Valerie; Reddy, Alyssa; Osborn, Michael; Mason, Gary; Lindhorst, Scott; Bronsema, Annika; Magimairajan, Vanan; Opocher, Enrico; De Mola, Rebecca Loret; Sabel, Magnus; Frojd, Charlotta; Sumerauer, David; Samuel, David; Cole, Kristina; Chiaravalli, Stefano; Massimino, Maura; Tomboc, Patrick; Ziegler, David S.; George, Ben; Van Damme, An; Hijiya, Nobuko; Gass, David; McGee, Rose B.; Mordechai, Oz; Bowers, Daniel C.; Laetsch, Theodore W.; Lossos, Alexander; Blumenthal, Deborah T.; Sarosiek, Tomasz; Yen, Lee Yi; Knipstein, Jeffrey; Bendel, Anne; Hoffman, Lindsey M.; Luna-Fineman, Sandra; Zimmermann, Stefanie; Scheers, Isabelle; Nichols, Kim E.; Zapotocky, Michal; Hansford, Jordan R.; Maris, John M.; Dirks, Peter; Taylor, Michael D.; Kulkarni, Abhaya V.; Shroff, Manohar; Tsang, Derek S.; Villani, Anita; Xu, Wei; Aronson, Melyssa; Durno, Carol; Shlien, Adam; Malkin, David; Getz, Gad; Maruvka, Yosef E.; Ohashi, Pamela S.; Hawkins, Cynthia; Pugh, Trevor J.; Bouffet, Eric; Tabori, Uri (Springer Science and Business Media LLC, 2022-01)
      Cancers arising from germline DNA mismatch-repair or polymerase-proofreading deficiencies (MMRD and PPD) in children harbour the highest mutational and microsatellite insertion/deletion (MS-indel) burden in humans. MMRD/PPD ...
    • Genomic Presence of Recombinant Porcine Endogenous Retrovirus in Transmitting Miniature Swine 

      Martin, Stanley I; Wilkinson, Robert; Fishman, Jay Alan (Springer Nature, 2006)
      The replication of porcine endogenous retrovirus (PERV) in human cell lines suggests a potential infectious risk in xenotransplantation. PERV isolated from human cells following cocultivation with porcine peripheral blood ...
    • Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas 

      Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)
      Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ...
    • Genomic Screening in Family-Based Association Testing 

      Murphy, Amy; McQueen, Matthew B; Su, Jessica Ann Lasky; Kraft, Peter; Lazarus, Ross; Laird, Nan M.; Lange, Christoph; Van Steen, Kristel (BioMed Central, 2005)
      Due to the recent gains in the availability of single-nucleotide polymorphism data, genome-wide association testing has become feasible. It is hoped that this additional data may confirm the presence of disease susceptibility ...
    • Genomic Screening with RNAi: Results and Challenges 

      Mohr, Stephanie; Bakal, Chris; Perrimon, Norbert (Annual Reviews, 2010)
      RNA interference (RNAi) is an effective tool for genome-scale, high-throughput analysis of gene function. In the past five years, a number of genome-scale RNAi high-throughput screens (HTSs) have been done in both Drosophila ...
    • Genomic Sequencing 

      Church, George; Gilbert, Walter (National Academy of Sciences, 1984-04-01)
      Unique DNA sequences can be determined directly from mouse genomic DNA. A denaturing gel separates by size mixtures of unlabeled DNA fragments from complete restriction and partial chemical cleavages of the entire genome. ...
    • Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations 

      Brastianos, Priscilla K.; Horowitz, Peleg M.; Santagata, Sandro; Jones, Robert T.; McKenna, Aaron; Getz, Gad; Ligon, Keith L.; Palescandolo, Emanuele; Van Hummelen, Paul; Ducar, Matthew D.; Raza, Alina; Sunkavalli, Ashwini; MacConaill, Laura E.; Stemmer-Rachamimov, Anat O.; Louis, David N.; Hahn, William C.; Dunn, Ian F.; Beroukhim, Rameen (2013)
      Meningiomas are the most common primary nervous system tumor. The tumor suppressor NF2 is disrupted in approximately half of meningiomas1 but the complete spectrum of genetic changes remains undefined. We performed ...
    • Genomic Signatures Characterize Leukocyte Infiltration in Myositis Muscles 

      Zhu, Wei; Streicher, Katie; Shen, Nan; Higgs, Brandon W; Morehouse, Chris; Greenlees, Lydia; Amato, Anthony A.; Ranade, Koustubh; Richman, Laura; Fiorentino, David; Jallal, Bahija; Greenberg, Steven A.; Yao, Yihong (BioMed Central, 2012)
      Background: Leukocyte infiltration plays an important role in the pathogenesis and progression of myositis, and is highly associated with disease severity. Currently, there is a lack of: efficacious therapies for myositis; ...