Browsing Research Articles (Genetics) by Title

Browsing Research Articles (Genetics) by Title

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  • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS 
    Southey, Melissa C.; Goldgar, David E.; Winqvist, Robert; Pylkas, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D.; Dennis, Joe; Michailidou, Kyriaki; Jansen van Rensburg, Elizabeth; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L.; Dork, Thilo; Claes, Kathleen B.M.; Reis-Filho, Jorge; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A.; Dowty, James G.; Schmidt, Marjanka K.; Broeks, Annegien; Hogervorst, Frans B.; Verhoef, Senno; Carpenter, Jane; Clarke, Christine; Scott, Rodney J.; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K.; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guenel, Pascal; Truong, Therese; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E.; Nielsen, Sune F.; Flyger, Henrik; Benitez, Javier; Zamora, M. Pilar; Perez, Jose Ignacio Arias; Menendez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A.; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Bruning, Thomas; Ko, Yon-Dschun; Muranen, Taru A.; Aittomaki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Spurdle, Amanda B.; kConFab Investigators; Australian Ovarian Cancer Study Group; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E.; Vachon, Celine; Pankratz, Vernon S.; McLean, Catriona; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Marchand, Loic Le; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J.; Lindstrom, Sara; Hankinson, Susan E.; Kraft, Peter; Andrulis, Irene; Knight, Julia A.; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert A.E.M.; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J.; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M.; Rafiq, Sajjad; Tapper, William J.; Gerty, Sue M.; Martens, John W.M.; Collee, J. Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S.; Humphreys, Keith; Cox, Angela; Reed, Malcolm W.R.; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M.; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rudiger, Thomas; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E.; Ambrosone, Christine B.; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Gonzalez-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Alvarez, Nuria; Herrero, Daniel; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G.; Weischer, Maren; Travis, Ruth C.; Neal, David; Donovan, Jenny L.; Hamdy, Freddie C.; Khaw, Kay-Tee; Stanford, Janet L.; Blot, William J.; Thibodeau, Stephen; Schaid, Daniel J.; Kelley, Joseph L.; Maier, Christiane; Kibel, Adam S.; Cybulski, Cezary; Cannon-Albright, Lisa; Butterbach, Katja; Park, Jong; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R.; Kote-Jarai, Zsofia; Al Olama, Ali Amin; Benlloch, Sara; Renner, Stefan P.; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A.; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E.; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L.; Wilkens, Lynne R.; Goodman, Marc T.; Runnebaum, Ingo; Hillemanns, Peter A.; Pelttari, Liisa M.; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P.; Ness, Roberta B.; Moysich, Kirsten B.; Du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kruger Kjaer, Susanne; Hogdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L.; Fridley, Brooke L.; Vierkant, Robert A.; Cunningham, Julie M.; Larson, Melissa C.; Fogarty, Zachary C.; Kalli, Kimberly R.; Liang, Dong; Lu, Karen H.; Hildebrandt, Michelle A.T.; Wu, Xifeng; Levine, Douglas A.; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S.; Marks, Jeffrey R.; Akushevich, Lucy; Cramer, Daniel W.; Schildkraut, Joellen; Terry, Kathryn L.; Poole, Elizabeth M.; Stampfer, Meir; Tworoger, Shelley S.; Bandera, Elisa V.; Orlow, Irene; Olson, Sara H.; Bjorge, Line; Salvesen, Helga B.; Van Altena, Anne M.; Aben, Katja K.H.; Kiemeney, Lambertus A.; Massuger, Leon F.A.G.; Pejovic, Tanja; Bean, Yukie; Brooks-Wilson, Angela; Kelemen, Linda E.; Cook, Linda S.; Le, Nhu D.; Gorski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Hogdall, Claus K.; Lundvall, Lene; Nedergaard, Lotte; Engelholm, Svend Aage; Dicks, Ed; Tyrer, Jonathan; Campbell, Ian; McNeish, Iain; Paul, James; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S.; Rothstein, Joseph H.; McGuire, Valerie; Sieh, Weiva; Cai, Hui; Shu, Xiao-Ou; Teten, Rachel T.; Sutphen, Rebecca; McLaughlin, John R.; Narod, Steven A.; Phelan, Catherine M.; Monteiro, Alvaro N.; Fenstermacher, David; Lin, Hui-Yi; Permuth, Jennifer B.; Sellers, Thomas A.; Chen, Y. Ann; Tsai, Ya-Yu; Chen, Zhihua; Gentry-Maharaj, Aleksandra; Gayther, Simon A.; Ramus, Susan J.; Menon, Usha; Wu, Anna H.; Pearce, Celeste L.; Van Den Berg, David; Pike, Malcolm C.; Dansonka-Mieszkowska, Agnieszka; Plisiecka-Halasa, Joanna; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul D.P.; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham G.; Tavtigian, Sean V.; Easton, Doug F.; Milne, Roger L. (Elsevier, 2016-09-05)
    BACKGROUND The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations ...
  • Paleogene radiation of a plant pathogenic mushroom 
    Coetzee, Martin Petrus Albertus; Bloomer, Paulette; Wingfield, Michael J.; Wingfield, Brenda D.; Carter, Dee A. (Public Library of Science, 2011-12-28)
    BACKGROUND: The global movement and speciation of fungal plant pathogens is important, especially because of the economic losses they cause and the ease with which they are able to spread across large areas. Understanding ...
  • Pan-genome-wide analysis of Pantoea ananatis identified genes linked to pathogenicity in onion 
    Agarwal, Gaurav; Choudhary, Divya; Stice, Shaun P.; Myers, Brendon K.; Gitaitis, Ronald D.; Venter, S.N. (Stephanus Nicolaas); Kvitko, Brian H.; Dutta, Bhabesh (Frontiers Media, 2021-08-19)
    Pantoea ananatis, a gram negative and facultative anaerobic bacterium is a member of a Pantoea spp. complex that causes center rot of onion, which significantly affects onion yield and quality. This pathogen does not ...
  • Pandemic governance : developing a politics of informality 
    Van Wyk, D. Trevor; Reddy, Vasu (Academy of Science of South Africa, 2022-05)
    South Africa had the privilege of learning from how other countries responded to the crisis engendered by the COVID-19 pandemic. However, this opportunity seems to have been lost as the South African government made the ...
  • The pandemic strain of Austropuccinia psidii causes myrtle rust in New Zealand and Singapore 
    Du Plessis, Erika Margarete; Granados, Ginna Marcela; Barnes, Irene; Ho, W.H.; Alexander, B.J.R.; Roux, Jolanda; McTaggart, Alistair R. (Springer, 2019-05)
    The myrtle rust pathogen, Austropuccinia psidii, was recently detected in New Zealand and Singapore. We used microsatellite markers to identify the strain of A. psidii that caused these incursions. Our results show that ...
  • Paraburkholderia strydomiana sp. nov. and Paraburkholderia steynii sp. nov.: rhizobial symbionts of the fynbos legume Hypocalyptus sophoroides 
    Beukes, Chrizelle Winsie; Steenkamp, Emma Theodora; Van Zyl, Elritha; Avontuur, Juanita R.; Chan, Wai Yin; Hassen, Ahmed Idris; Palmer, Marike; Mthombeni, Lunghile S.; Phalane, Francina L.; Sereme, T. Karabo; Venter, S.N. (Stephanus Nicolaas) (Springer, 2019-09)
    Please read abstract in the article.
  • Paraburkholderia youngii sp. nov. and ‘ Paraburkholderia atlantica ’ – Brazilian and Mexican Mimosa -associated rhizobia that were previously known as Paraburkholderia tuberum sv. mimosae 
    Mavima, Lazarus; Beukes, Chrizelle Winsie; Palmer, Marike; De Meyer, Sofie E.; James, Euan K.; Maluk, Marta; Gross, Eduardo; Junior, Fabio Bueno dos Reis; Avontuur, Juanita R.; Chan, Wai Yin; Venter, S.N. (Stephanus Nicolaas); Steenkamp, Emma Theodora (Elsevier, 2021-01)
    Please read abstract in the article.
  • Parallel host range expansion in two unrelated cossid moths infesting Eucalyptus nitens on two continents 
    Degefu, Dawit Tesfaye; Hurley, Brett Phillip; Garnas, Jeffrey R.; Wingfield, Michael J.; Ahumada, Rodrigo; Slippers, Bernard (Wiley-Blackwell, 2013-02)
    1. Two cossid moths, Coryphodema tristis and Chilecomadia valdiviana, have recently become pests on Eucalyptus nitens in South Africa and Chile, respectively. Both C. tristis and C. valdiviana have large host ranges and ...
  • Parasite genetic diversity reflects continued residual malaria transmission in Vhembe District, a hotspot in the Limpopo Province of South Africa 
    Gwarinda, Hazel B.; Tessema, Sofonias K.; Raman, Jaishree; Greenhouse, Bryan; Birkholtz, Lyn-Marie (BMC, 2021-02)
    BACKGROUND : South Africa aims to eliminate malaria transmission by 2023. However, despite sustained vector control efforts and case management interventions, the Vhembe District remains a malaria transmission hotspot. To ...
  • Pathogen infection influences a distinct microbial community composition in sorghum RILs 
    Masenya, K.; Thompson, G.D.; Tekere, M.; Makhalanyane, Thulani P.; Pierneef, Rian Ewald; Rees, D.J.G. (Springer, 2021-06)
    AIMS: The rhizosphere microbiome substantially affects plant health, yet comparatively little is known regarding the foliar community dynamics. Here, we examine the relationship between the microbiota and their response to ...
  • Pathogenesis, biophysical stability and phenotypic variance of SAT2 foot-and-mouth disease virus 
    Ramulongo, Tovhowani Dapheny; Maree, Francois Frederick; Scott, Katherine; Opperman, Pamela Anne; Theron, Jacques (Elsevier, 2020-04)
    Foot-and-mouth disease (FMD) is a highly contagious vesicular disease of cloven-hoofed animals, which severely decreases livestock productivity. FMD virus (FMDV), the causative agent, initiates infection by interaction ...
  • Pathologists and entomologists must join forces against forest pest and pathogen invasions 
    Jactel, Herve; Desprez-Loustau, Marie-Laure; Battisti, Andrea; Brockerhoff, Eckehard; Santini, Alberto; Stenlid, Jan; Bjorkman, Christer; Branco, Manuela; Dehnen-Schmutz, Katharina; Douma, Jacob C.; Drakulic, Jassy; Drizou, Fryni; Eschen, Rene; Franco, Jose Carlos; Gossner, Martin M.; Green, Samantha; Kenis, Marc; Klapwijk, Maartje J.; Liebhold, Andrew M.; Orazio, Christophe; Prospero, Simone; Robinet, Christelle; Schroeder, Martin; Slippers, Bernard; Stoev, Pavel; Sun, Jianghua; Van den Dool, Robbert; Wingfield, Michael J.; Zalucki, Myron P. (Pensoft Publishers, 2020-07-10)
    The world’s forests have never been more threatened by invasions of exotic pests and pathogens, whose causes and impacts are reinforced by global change. However, forest entomologists and pathologists have, for too long, ...
  • Patterns of African and Asian admixture in the Afrikaner population of South Africa 
    N. Hollfelder; Erasmus, J.C. (Johannes Christoff); Hammaren, N.; Vicente, M.; Jakobsson, M.; Greeff, Jaco M. (Jacobus Maree); Schlebusch, C.M. (BioMed Central, 2020-02-24)
    BACKGROUND : The Afrikaner population of South Africa is the descendants of European colonists who started to colonize the Cape of Good Hope in the 1600s. In the early days of the colony, mixed unions between European ...
  • Pena–Shokeir syndrome : current management strategies and palliative care 
    Adam, Sumaiya; Coetzee, Melantha; Honey, Engela M. (Dove Medical Press, 2018)
    Pena–Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased ...
  • Penicillium diversity in Canadian bat caves, including a new species, P. speluncae 
    Visagie, Cobus M.; Yilmaz, Neriman; Vanderwolf, K.; Renaud, J.B.; Sumarah, M.W.; Houbraken, J.; Assebgui, R.; Seifert, K.A.; Malloch, D. (Westerdijk Fungal Biodiversity Institute, 2020-06)
    Penicillium species were commonly isolated during a fungal survey of bat hibernacula in New Brunswick and Quebec, Canada. Strains were isolated from arthropods, bats, rodents (i.e. the deer mouse Peromyscus maniculatus), ...
  • Phages actively challenge niche communities in Antarctic soils 
    Bezuidt, Keoagile Ignatius Oliver; Lebre, Pedro H.; Pierneef, Rian Ewald; Leon-Sobrino, Carlos; Adriaenssens, Evelien M.; Cowan, Don A.; Van de Peer, Yves; Makhalanyane, Thulani P. (American Society for Microbiology, 2020-05-05)
    By modulating the structure, diversity, and trophic outputs of microbial communities, phages play crucial roles in many biomes. In oligotrophic polar deserts, the effects of katabatic winds, constrained nutrients, and ...
  • The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 
    Nikkel, Sarah M.; Dauber, Andrew; De Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Da Cunha, Bruna Santos; Delaney, Louisa A.; Destree, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.C.; Heron, Delphine; Hoischen, Alexander; Honey, Engela M.; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V.A.M.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.M.; Lucas, Luiza S.; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sa, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen E.H.; Slavotinek, Anne; Temple, I. Karen; Van der Burgt, Ineke; De Vries, Bert B.A.; Weisfeld-Adams, James D.; Whiteford, Margo L.; Wit, Jan M.; Yee, Connie Fung On; Beaulieu, Chandree L.; FORGE Canada Consortium; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013-04-27)
    BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP ...
  • Pheromone expression reveals putative mechanism of unisexuality in a saprobic ascomycete fungus 
    Wilson, Andrea M.; Van der Nest, Magrieta Aletta; Wilken, Pieter Markus; Wingfield, Michael J.; Wingfield, Brenda D. (Public Library of Science, 2018-03)
    Homothallism (self-fertility) describes a wide variety of sexual strategies that enable a fungus to reproduce in the absence of a mating partner. Unisexual reproduction, a form of homothallism, is a process whereby a fungus ...
  • Pheromones as management tools for non-Scolytinae Curculionidae : development and implementation considerations 
    Scheepers, Luki-Marie; Allison, Jeremy D.; Bouwer, Marc Clement; Rohwer, Egmont Richard; Slippers, Bernard (NISC (Pty) Ltd and Informa UK Limited (trading as Taylor and Francis Group), 2020)
    For the large family Curculionidae, the number of species considered pests is expected to increase due to global movement of plant and soil material, as well as climate change. Pheromones are increasingly popular for use ...
  • The phoma-like dilemma 
    Hou, L.W.; Groenewald, Johannes Zacharias; Pfenning, L.H.; Yarden, O.; Crous, Pedro W.; Cai, L. (Elsevier, 2020-06)
    Species of Didymellaceae have a cosmopolitan distribution and are geographically widespread, occurring in diverse ecosystems. The family includes several important plant pathogenic fungi associated with fruit, leaf, stem ...