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Results: 37
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
MJ Keogh, H Steele, K Douroudis, A Pyle, J Duff, R Hussain, T Smertenko, H Griffin, M Santibanez-Koref, R Horvath, PF Chinnery
Mar 07, 2019
Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired...
Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
Netta Mäkinen, Mervi Aavikko, Tuomas Heikkinen, Minna Taipale, Jussi Taipale, Riitta Koivisto-Korander, Ralf Bützow, Pia Vahteristo
Jan 03, 2020
Uterine leiomyosarcomas (ULMSs) are aggressive smooth muscle tumors associated with poor clinical outcome. Despite previous cytogenetic and molecular studies, their molecular background has remained elusive. To examine somatic...
Adaptor Proteins Signal Transducing Aged Aged 80 and over Co-Repressor Proteins DNA Helicases Exome Female Gene Expression Regulation Neoplastic High-Throughput Nucleotide Sequencing Humans Leiomyosarcoma Mediator Complex Middle Aged Molecular Chaperones Mutation Rate Nuclear Proteins Telomere Homeostasis Tumor Suppressor Protein p53 Uterine Neoplasms X-linked Nuclear Protein
Correlated and geographically predictable Neanderthal and Denisovan legacies are difficult to reconcile with a simple model based on inter-breeding.
William Amos
Jul 28, 2021
Although the presence of archaic hominin legacies in humans is taken for granted, little attention has been given as to how the data fit with how humans colonized the world. Here, I show that Neanderthal and Denisovan legacies...
Global genome nucleotide excision repair is organized into domains that promote efficient DNA repair in chromatin.
Shirong Yu, Katie Evans, Patrick van Eijk, Mark Bennett, Richard M Webster, Matthew Leadbitter, Yumin Teng, Raymond Waters, Stephen P Jackson, Simon H Reed
Sep 13, 2016
Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease-Associated Colorectal Cancers.
Shahida Din, Kim Wong, Mike F Mueller, Anca Oniscu, James Hewinson, Catherine J Black, Martin L Miller, Alejandro Jiménez-Sánchez, Roy Rabbie, Mamunar Rashid, Jack Satsangi, David J Adams, Mark J Arends
Nov 06, 2018
Purpose: Inflammatory bowel disease-associated colorectal cancers (IBD-CRC) are associated with a higher mortality than sporadic colorectal cancers. The poorly defined molecular pathogenesis of IBD-CRCs limits development of...
Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer.
Alexi N Archambault, Yu-Ru Su, Jihyoun Jeon, Minta Thomas, Yi Lin, David V Conti, Aung Ko Win, Lori C Sakoda, Iris Lansdorp-Vogelaar, Elisabeth FP Peterse, Ann G Zauber, David Duggan, Andreana N Holowatyj, Jeroen R Huyghe, Hermann Brenner, Michelle Cotterchio, Stéphane Bézieau, Stephanie L Schmit, Christopher K Edlund, Melissa C Southey, Robert J Macinnis, Peter T Campbell, Jenny Chang-Claude, Martha L Slattery, Andrew T Chan, Amit D Joshi, Mingyang Song, Yin Cao, Michael O Woods, Emily White, Stephanie J Weinstein, Cornelia M Ulrich, Michael Hoffmeister, Stephanie A Bien, Tabitha A Harrison, Jochen Hampe, Christopher I Li, Clemens Schafmayer, Kenneth Offit, Paul D Pharoah, Victor Moreno, Annika Lindblom, Alicja Wolk, Anna H Wu, Li Li, Marc J Gunter, Andrea Gsur, Temitope O Keku, Rachel Pearlman, D Timothy Bishop, Sergi Castellví-Bel, Leticia Moreira, Pavel Vodicka, Ellen Kampman, Graham G Giles, Demetrius Albanes, John A Baron, Sonja I Berndt, Stefanie Brezina, Stephan Buch, Daniel D Buchanan, Antonia Trichopoulou, Gianluca Severi, María-Dolores Chirlaque, Maria-José Sánchez, Domenico Palli, Tilman Kühn, Neil Murphy, Amanda J Cross, Andrea N Burnett-Hartman, Stephen J Chanock, Albert de la Chapelle, Douglas F Easton, Faye Elliott, Dallas R English, Edith JM Feskens, Liesel M Fitzgerald, Phyllis J Goodman, John L Hopper, Thomas J Hudson, David J Hunter, Eric J Jacobs, Corinne E Joshu, Sébastien Küry, Sanford D Markowitz, Roger L Milne, Elizabeth A Platz, Gad Rennert, Hedy S Rennert, Fredrick R Schumacher, Robert S Sandler, Daniela Seminara, Catherine M Tangen, Stephen N Thibodeau, Amanda E Toland, Franzel JB van Duijnhoven, Kala Visvanathan, Ludmila Vodickova, John D Potter, Satu Männistö, Korbinian Weigl, Jane Figueiredo, Vicente Martín, Susanna C Larsson, Patrick S Parfrey, Wen-Yi Huang, Heinz-Josef Lenz, Jose E Castelao, Manuela Gago-Dominguez, Victor Muñoz-Garzón, Christoph Mancao, Christopher A Haiman, Lynne R Wilkens, Erin Siegel, Elizabeth Barry, Ban Younghusband, Bethany Van Guelpen, Sophia Harlid, Anne Zeleniuch-Jacquotte, Peter S Liang, Mengmeng Du, Graham Casey, Noralane M Lindor, Loic Le Marchand, Steven J Gallinger, Mark A Jenkins, Polly A Newcomb, Stephen B Gruber, Robert E Schoen, Heather Hampel, Douglas A Corley, Li Hsu, Ulrike Peters, Richard B Hayes
Dec 12, 2019
BACKGROUND & AIMS: Early-onset colorectal cancer (CRC, in persons younger than 50 years old) is increasing in incidence; yet, in the absence of a family history of CRC, this population lacks harmonized recommendations for...
colon cancer EOCRC Penetrance SNP Age of Onset Case-Control Studies Cohort Studies Colorectal Neoplasms DNA Mutational Analysis Datasets as Topic Female Genetic Predisposition to Disease Genome-Wide Association Study Genotyping Techniques Humans Life Style Male Medical History Taking Middle Aged Mutation Rate Polymorphism Single Nucleotide Risk Factors whole genome sequencing
Intra-tumour diversification in colorectal cancer at the single-cell level.
Sophie F Roerink, Nobuo Sasaki, Henry Lee-Six, Matthew D Young, Ludmil B Alexandrov, Sam Behjati, Thomas J Mitchell, Sebastian Grossmann, Howard Lightfoot, David A Egan, Apollo Pronk, Niels Smakman, Joost van Gorp, Elizabeth Anderson, Stephen J Gamble, Chris Alder, Marc van de Wetering, Peter J Campbell, Michael R Stratton, Hans Clevers
Feb 26, 2018
Every cancer originates from a single cell. During expansion of the neoplastic cell population, individual cells acquire genetic and phenotypic differences from each other. Here, to investigate the nature and extent of...
Mutation rate analysis via parent– progeny sequencing of the perennial peach. I. A low rate in woody perennials and a higher mutagenicity in hybrids
Zhengqing Xie, Long Wang, Lirong Wang, Zhiqiang Wang, Zhenhua Lu, Dacheng Tian, Sihai Yang, Laurence D. Hurst
Oct 26, 2016
Mutation rates vary between species, between strains within species and between regions within a genome. What are the determinants of these forms of variation? Here, via parent-offspring sequencing of the peach we ask whether...
Inherent mosaicism and extensive mutation of human placentas.
Tim HH Coorens, Thomas RW Oliver, Rashesh Sanghvi, Ulla Sovio, Emma Cook, Roser Vento-Tormo, Muzlifah Haniffa, Matthew D Young, Raheleh Rahbari, Neil Sebire, Peter J Campbell, D Stephen Charnock-Jones, Gordon CS Smith, Sam Behjati
Feb 24, 2021
Estimation of the spontaneous mutation rate in Heliconius melpomene.
Peter D Keightley, Ana Pinharanda, Rob W Ness, Fraser Simpson, Kanchon K Dasmahapatra, James Mallet, John W Davey, Chris D Jiggins
Nov 13, 2014
A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy
A Noorani, J Bornschein, AG Lynch, M Secrier, A Achilleos, M Eldridge, L Bower, JMJ Weaver, J Crawte, C-A Ong, N Shannon, S MacRae, N Grehan, B Nutzinger, M O'Donovan, R Hardwick, S Tavaré, RC Fitzgerald, Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium
Jul 18, 2017
Adenocarcinoma Aged Antineoplastic Agents Cell Transformation Neoplastic Computational Biology DNA Copy Number Variations Esophageal Neoplasms esophagus Female Gene Expression Profiling Gene Expression Regulation Neoplastic Genome Human High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mutation Rate Neoadjuvant Therapy Neoplasm Proteins Point Mutation Polymorphism Single Nucleotide Prospective Studies Time Factors
Mutation rate analysis via parent– progeny sequencing of the perennial peach. I. A low rate in woody perennials and a higher mutagenicity in hybrids
Zhengqing Xie, Long Wang, Lirong Wang, Zhiqiang Wang, Zhenhua Lu, Dacheng Tian, Sihai Yang, Laurence D. Hurst
Oct 26, 2016
Mutation rates vary between species, between strains within species and between regions within a genome. What are the determinants of these forms of variation? Here, via parent-offspring sequencing of the peach we ask whether...
Contribution of retrotransposition to developmental disorders.
Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim, Tarjinder Singh, Kate E Chandler, Emma Clement, Katherine L Lachlan, Katrina Prescott, Elisabeth Rosser, David R FitzPatrick, Helen V Firth, Matthew E Hurles
Oct 10, 2020
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of...
Nonequivalence of updating rules in evolutionary games under high mutation rates.
Moran processes are often used to model selection in evolutionary simulations. The updating rule in Moran processes is a birth-death process, i. e., selection according to fitness of an individual to give birth, followed by the...
Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions.
Oliver Thompson, Ferdinand von Meyenn, Zoe Hewitt, John Alexander, Andrew Wood, Richard Weightman, Sian Gregory, Felix Krueger, Simon Andrews, Ivana Barbaric, Paul J Gokhale, Harry D Moore, Wolf Reik, Marta Milo, Serena Nik-Zainal, Kosuke Yusa, Peter W Andrews
Feb 27, 2020
The occurrence of repetitive genomic changes that provide a selective growth advantage in pluripotent stem cells is of concern for their clinical application. However, the effect of different culture conditions on the underlying...
Somatic mutation landscapes at single-molecule resolution.
Federico Abascal, Luke MR Harvey, Emily Mitchell, Andrew RJ Lawson, Stefanie V Lensing, Peter Ellis, Andrew JC Russell, Raul E Alcantara, Adrian Baez-Ortega, Yichen Wang, Eugene Jing Kwa, Henry Lee-Six, Alex Cagan, Tim HH Coorens, Michael Spencer Chapman, Sigurgeir Olafsson, Steven Leonard, David Jones, Heather E Machado, Megan Davies, Nina F Øbro, Krishnaa T Mahubani, Kieren Allinson, Moritz Gerstung, Kourosh Saeb-Parsy, David G Kent, Elisa Laurenti, Michael R Stratton, Raheleh Rahbari, Peter J Campbell, Robert J Osborne, Iñigo Martincorena
Mar 24, 2021
Somatic mutations drive the development of cancer and may contribute to ageing and other diseases1,2. Despite their importance, the difficulty of detecting mutations that are only present in single cells or small clones has...
Lineage tracing of human development through somatic mutations.
Michael Spencer Chapman, Anna Maria Ranzoni, Brynelle Myers, Nicholas Williams, Tim HH Coorens, Emily Mitchell, Timothy Butler, Kevin J Dawson, Yvette Hooks, Luiza Moore, Jyoti Nangalia, Philip S Robinson, Kenichi Yoshida, Elizabeth Hook, Peter J Campbell, Ana Cvejic
Apr 19, 2021
The ontogeny of the human haematopoietic system during fetal development has previously been characterized mainly through careful microscopic observations1. Here we reconstruct a phylogenetic tree of blood development using...
Contrasting origin of B chromosomes in two cervids (Siberian roe deer and grey brocket deer) unravelled by chromosome-specific DNA sequencing.
Alexey I Makunin, Ilya G Kichigin, Denis M Larkin, Patricia CM O'Brien, Malcolm A Ferguson-Smith, Fengtang Yang, Anastasiya A Proskuryakova, Nadezhda V Vorobieva, Ekaterina N Chernyaeva, Stephen J O'Brien, Alexander S Graphodatsky, Vladimir A Trifonov
Sep 29, 2016
BACKGROUND: B chromosomes are dispensable and variable karyotypic elements found in some species of animals, plants and fungi. They often originate from duplications and translocations of host genomic regions or result from...
B chromosome Evolution DOP-PCR Grey Brocket Deer high-throughput sequencing Protooncogenes Siberian Roe Deer Animals Biological Evolution Chromosome Mapping Chromosomes Human 4-5 Chromosomes Mammalian DNA Primers Deer Gene Duplication Gene Expression Heterozygote High-Throughput Nucleotide Sequencing Humans Karyotyping Mutation Rate Polymerase Chain Reaction Proto-Oncogene Proteins c-kit Proto-Oncogene Proteins c-ret Species Specificity
Mutation rate analysis via parent- progeny sequencing of the perennial peach. II. No evidence for recombination associated mutation
Mutation rates and recombination rates vary between species and between regions within a genome. What are the determinants of these forms of variation? Prior evidence has suggested that the recombination might be mutagenic...
Mutational signatures
Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures...
Flanking heterozygosity influences the relative probability of different base substitutions in humans.
William Amos
Nov 26, 2019
Understanding when, where and which mutations are mostly likely to occur impacts many areas of evolutionary biology, from genetic diseases to phylogenetic reconstruction. Africans and non-African humans differ in the mutability...
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Jennifer Wessel, Audrey Y Chu, Sara M Willems, Shuai Wang, Hanieh Yaghootkar, Jennifer A Brody, Marco Dauriz, Marie-France Hivert, Sridharan Raghavan, Leonard Lipovich, Bertha Hidalgo, Keolu Fox, Jennifer E Huffman, Ping An, Yingchang Lu, Laura J Rasmussen-Torvik, Niels Grarup, Margaret G Ehm, Li Li, Abigail S Baldridge, Alena Stančáková, Ravinder Abrol, Céline Besse, Anne Boland, Jette Bork-Jensen, Myriam Fornage, Daniel F Freitag, Melissa E Garcia, Xiuqing Guo, Kazuo Hara, Aaron Isaacs, Johanna Jakobsdottir, Leslie A Lange, Jill C Layton, Man Li, Jing Hua Zhao, Karina Meidtner, Alanna C Morrison, Mike A Nalls, Marjolein J Peters, Maria Sabater-Lleal, Claudia Schurmann, Angela Silveira, Albert V Smith, Lorraine Southam, Marcus H Stoiber, Rona J Strawbridge, Kent D Taylor, Tibor V Varga, Kristine H Allin, Najaf Amin, Jennifer L Aponte, Tin Aung, Caterina Barbieri, Nathan A Bihlmeyer, Michael Boehnke, Cristina Bombieri, Donald W Bowden, Sean M Burns, Yuning Chen, Yii-DerI Chen, Ching-Yu Cheng, Adolfo Correa, Jacek Czajkowski, Abbas Dehghan, Georg B Ehret, Gudny Eiriksdottir, Stefan A Escher, Aliki-Eleni Farmaki, Mattias Frånberg, Giovanni Gambaro, Franco Giulianini, William A Goddard, Anuj Goel, Omri Gottesman, Megan L Grove, Stefan Gustafsson, Yang Hai, Göran Hallmans, Jiyoung Heo, Per Hoffmann, Mohammad K Ikram, Richard A Jensen, Marit E Jørgensen, Torben Jørgensen, Maria Karaleftheri, Chiea C Khor, Andrea Kirkpatrick, Aldi T Kraja, Johanna Kuusisto, Ethan M Lange, IT Lee, Wen-Jane Lee, Aaron Leong, Jiemin Liao, Chunyu Liu, Yongmei Liu, Cecilia M Lindgren, Allan Linneberg, Giovanni Malerba, Vasiliki Mamakou, Eirini Marouli, Nisa M Maruthur, Angela Matchan, Roberta McKean-Cowdin, Olga McLeod, Ginger A Metcalf, Karen L Mohlke, Donna M Muzny, Ioanna Ntalla, Nicholette D Palmer, Dorota Pasko, Andreas Peter, Nigel W Rayner, Frida Renström, Ken Rice, Cinzia F Sala, Bengt Sennblad, Ioannis Serafetinidis, Jennifer A Smith, Nicole Soranzo, Elizabeth K Speliotes, Eli A Stahl, Kathleen Stirrups, Nikos Tentolouris, Anastasia Thanopoulou, Mina Torres, Michela Traglia, Emmanouil Tsafantakis, Sundas Javad, Lisa R Yanek, Eleni Zengini, Diane M Becker, Joshua C Bis, James B Brown, L Adrienne Cupples, Torben Hansen, Erik Ingelsson, Andrew J Karter, Carlos Lorenzo, Rasika A Mathias, Jill M Norris, Gina M Peloso, Wayne H-H Sheu, Daniela Toniolo, Dhananjay Vaidya, Rohit Varma, Lynne E Wagenknecht, Heiner Boeing, Erwin P Bottinger, George Dedoussis, Panos Deloukas, Ele Ferrannini, Oscar H Franco, Paul W Franks, Richard A Gibbs, Vilmundur Gudnason, Anders Hamsten, Tamara B Harris, Andrew T Hattersley, Caroline Hayward, Albert Hofman, Jan-Håkan Jansson, Claudia Langenberg, Lenore J Launer, Daniel Levy, Ben A Oostra, Christopher J O'Donnell, Stephen O'Rahilly, Sandosh Padmanabhan, James S Pankow, Ozren Polasek, Michael A Province, Stephen S Rich, Paul M Ridker, Igor Rudan, Matthias B Schulze, Blair H Smith, André G Uitterlinden, Mark Walker, Hugh Watkins, Tien Y Wong, Eleftheria Zeggini, EPIC-InterAct Consortium, Markku Laakso, Ingrid B Borecki, Daniel I Chasman, Oluf Pedersen, Bruce M Psaty, E Shyong Tai, Cornelia M van Duijn, Nicholas J Wareham, Dawn M Waterworth, Eric Boerwinkle, WH Linda Kao, Jose C Florez, Ruth JF Loos, James G Wilson, Timothy M Frayling, David S Siscovick, Josée Dupuis, Jerome I Rotter, James B Meigs, Robert A Scott, Mark O Goodarzi
Mar 24, 2015
Black People Blood Glucose Diabetes mellitus Type 2 Exome Fasting Genetic Association Studies Genetic Loci Genetic Predisposition to Disease genetic variation Glucagon-Like Peptide-1 Receptor Glucose-6-Phosphatase Humans Insulin Mutation Rate Oligonucleotide Array Sequence Analysis Polymorphism Single Nucleotide White People
Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data
The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that...
Mutation rate dynamics reflect ecological change in an emerging zoonotic pathogen.
Gemma GR Murray, Andrew J Balmer, Josephine Herbert, Nazreen F Hadijirin, Caroline L Kemp, Marta Matuszewska, Sebastian Bruchmann, AS Md Mukarram Hossain, Marcelo Gottschalk, Alexander W Tucker, Eric Miller, Lucy A Weinert
Jan 07, 2022
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