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Results: 87
De-fusing mitochondria defuses the mtDNA time-bomb.
Being uniparentally inherited and with a high mutation rate, mitochondrial DNA (mtDNA) should relentlessly acquire mutations, eventually destroying a species through “mutational meltdown”. Lieber et al. now show that...
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
Maria Escala-Garcia, Sander Canisius, Renske Keeman, Jonathan Beesley, Hoda Anton-Culver, Volker Arndt, Annelie Augustinsson, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Marina Bermisheva, Stig E Bojesen, Manjeet K Bolla, Hermann Brenner, Federico Canzian, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Fergus J Couch, Kamila Czene, Mary B Daly, Joe Dennis, Peter Devilee, Thilo Dörk, Alison M Dunning, Douglas F Easton, Arif B Ekici, A Heather Eliassen, Peter A Fasching, Henrik Flyger, Manuela Gago-Dominguez, Montserrat García-Closas, José A García-Sáenz, Jürgen Geisler, Graham G Giles, Mervi Grip, Melanie Gündert, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Jaana M Hartikainen, Bernadette AM Heemskerk-Gerritsen, Antoinette Hollestelle, Reiner Hoppe, John L Hopper, David J Hunter, William Jacot, Anna Jakubowska, Esther M John, Audrey Y Jung, Rudolf Kaaks, Elza Khusnutdinova, Linetta B Koppert, Peter Kraft, Vessela N Kristensen, Allison W Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Robert N Luben, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Taru A Muranen, Heli Nevanlinna, Andrew F Olshan, Håkan Olsson, Tjoung-Won Park-Simon, Alpa V Patel, Paolo Peterlongo, Paul DP Pharoah, Kevin Punie, Paolo Radice, Gad Rennert, Hedy S Rennert, Atocha Romero, Rebecca Roylance, Thomas Rüdiger, Matthias Ruebner, Emmanouil Saloustros, Elinor J Sawyer, Rita K Schmutzler, Minouk J Schoemaker, Christopher Scott, Melissa C Southey, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, Lauren R Teras, Emilie Thomas, Ian Tomlinson, Melissa A Troester, Celine M Vachon, Qin Wang, Robert Winqvist, Alicja Wolk, Argyrios Ziogas, kConFab/AOCS Investigators, Kyriaki Michailidou, Georgia Chenevix-Trench, Thomas Bachelot, Marjanka K Schmidt
Nov 25, 2021
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression...
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Developmental Competence for Primordial Germ Cell Fate.
During mammalian embryonic development, the trophectoderm and primitive endoderm give rise to extraembryonic tissues, while the epiblast differentiates into all somatic lineages and the germline. Remarkably, only a few classes...
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Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.
Most humans carry a mixed population of mitochondrial DNA (mtDNA heteroplasmy) affecting ~1-2% of molecules, but rapid percentage shifts occur over one generation leading to severe mitochondrial diseases. A decrease in the...
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The specification of imprints in mammals.
CW Hanna, G Kelsey
Jun 24, 2019
At the heart of genomic imprinting in mammals are imprinting control regions (ICRs), which are the discrete genetic elements that confer imprinted monoallelic expression to several genes in imprinted gene clusters. A...
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Common germline polymorphisms associated with breast cancer-specific survival.
Ailith Pirie, Qi Guo, Peter Kraft, Sander Canisius, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Dieter Lambrechts, Caroline Weltens, Karin Leunen, Chantal Van Ongeval, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Carl Blomqvist, Kristiina Aittomäki, Rainer Fagerholm, Taru A Muranen, Janet E Olsen, Emily Hallberg, Celine Vachon, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Annegien Broeks, Sten Cornelissen, Christopher A Haiman, Brian E Henderson, Frederick Schumacher, Loic Le Marchand, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Simon S Cross, Malcolm Wr Reed, Graham G Giles, Roger L Milne, Catriona Mclean, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Maartje J Hooning, Antoinette Hollestelle, John WM Martens, Ans Mw van den Ouweland, Federick Marme, Andreas Schneeweiss, Rongxi Yang, Barbara Burwinkel, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Hermann Brenner, Katja Butterbach, Bernd Holleczek, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Jingmei Li, Judith S Brand, Keith Humphreys, Peter Devilee, Robert AEM Tollenaar, Caroline Seynaeve, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Filomena Ficarazzi, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Rosemary Balleine, Kelly-Anne Phillips, kConFab Investigators, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Anna Jakubowska, Jan Lubinski, Jacek Gronwald, Katarzyna Durda, Ute Hamann, Maria Kabisch, Hans Ulrich Ulmer, Thomas Rüdiger, Sara Margolin, Vessela Kristensen, Siljie Nord, NBCS Investigators, D Gareth Evans, Jean Abraham, Helena Earl, Christopher J Poole, Louise Hiller, Janet A Dunn, Sarah Bowden, Rose Yang, Daniele Campa, W Ryan Diver, Susan M Gapstur, Mia M Gaudet, Susan Hankinson, Robert N Hoover, Anika Hüsing, Rudolf Kaaks, Mitchell J Machiela, Walter Willett, Myrto Barrdahl, Federico Canzian, Suet-Feung Chin, Carlos Caldas, David J Hunter, Sara Lindstrom, Montserrat Garcia-Closas, Fergus J Couch, Georgia Chenevix-Trench, Arto Mannermaa, Irene L Andrulis, Per Hall, Jenny Chang-Claude, Douglas F Easton, Stig E Bojesen, Angela Cox, Peter A Fasching, Paul DP Pharoah, Marjanka K Schmidt
Jun 11, 2015
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The fragilis interferon-inducible gene family of transmembrane proteins is associated with germ cell specification in mice.
BACKGROUND: Specification of primordial germ cells in mice depends on instructive signalling events, which act first to confer germ cell competence on epiblast cells, and second, to impose a germ cell fate upon competent...
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Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.
Inherited mutations in the mitochondrial (mt)DNA are a major cause of human disease, with approximately 1 in 5000 people affected by one of the hundreds of identified pathogenic mtDNA point mutations or deletions. Due to the...
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On the origin of the human germline.
In mice, primordial germ cells (PGCs), the precursors of eggs and sperm, originate from pregastrulation postimplantation embryos. By contrast, the origin of human PGCs (hPGCs) has been less clear and has been difficult to study...
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