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Refinado por: Base de dados/Biblioteca: BACON - Mir@bel - GLOBAL_LIBRESACCES remover assunto: Mutation remover
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11
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
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Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

Elliott, Kerryn ; Boström, Martin ; Filges, Stefan ; Lindberg, Markus ; Van den Eynden, Jimmy ; Ståhlberg, Anders ; Clausen, Anders R ; Larsson, Erik Gordenin, Dmitry A.

PLoS genetics, 2018-12, Vol.14 (12), p.e1007849-e1007849 [Periódico revisado por pares]

United States: Public Library of Science

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12
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
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Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity

Gurol, Kerem C ; Li, Danyang ; Broberg, Karin ; Mukhopadhyay, Somshuvra

American journal of physiology: Gastrointestinal and liver physiology, 2023-01, Vol.324 (1), p.G78-G88 [Periódico revisado por pares]

United States: American Physiological Society

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13
Filamin A Regulates Cardiovascular Remodeling
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Filamin A Regulates Cardiovascular Remodeling

Bandaru, Sashidar ; Ala, Chandu ; Zhou, Alex-Xianghua ; Akyürek, Levent M.

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6555 [Periódico revisado por pares]

Basel: MDPI AG

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14
Within-Host Adaptation Mediated by Intergenic Evolution in Pseudomonas aeruginosa
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Within-Host Adaptation Mediated by Intergenic Evolution in Pseudomonas aeruginosa

Khademi, S M Hossein ; Sazinas, Pavelas ; Jelsbak, Lars Golding, Brian

Genome biology and evolution, 2019-05, Vol.11 (5), p.1385-1397

England: Oxford University Press

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15
Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex
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Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex

Merker, Matthias ; Kohl, Thomas A ; Barilar, Ivan ; Andres, Sönke ; Fowler, Philip W ; Chryssanthou, Erja ; Ängeby, Kristian ; Jureen, Pontus ; Moradigaravand, Danesh ; Parkhill, Julian ; Peacock, Sharon J ; Schön, Thomas ; Maurer, Florian P ; Walker, Timothy ; Köser, Claudio ; Niemann, Stefan

Genome medicine, 2020-03, Vol.12 (1), p.27-8, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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16
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Hendricks, Audrey E ; Bochukova, Elena G ; Marenne, Gaëlle ; Keogh, Julia M ; Atanassova, Neli ; Bounds, Rebecca ; Wheeler, Eleanor ; Mistry, Vanisha ; Henning, Elana ; Körner, Antje ; Muddyman, Dawn ; McCarthy, Shane ; Hinney, Anke ; Hebebrand, Johannes ; Scott, Robert A ; Langenberg, Claudia ; Wareham, Nick J ; Surendran, Praveen ; Howson, Joanna M ; Butterworth, Adam S ; Danesh, John ; Nordestgaard, Børge G ; Nielsen, Sune F ; Afzal, Shoaib ; Papadia, Sofia ; Ashford, Sofie ; Garg, Sumedha ; Millhauser, Glenn L ; Palomino, Rafael I ; Kwasniewska, Alexandra ; Tachmazidou, Ioanna ; O'Rahilly, Stephen ; Zeggini, Eleftheria ; Barroso, Inês ; Farooqi, I Sadaf

Scientific reports, 2017-06, Vol.7 (1), p.4394-14, Article 4394 [Periódico revisado por pares]

England: Nature Publishing Group

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17
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
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PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

Okuyama, Kazuki ; Strid, Tobias ; Kuruvilla, Jacob ; Somasundaram, Rajesh ; Cristobal, Susana ; Smith, Emma ; Prasad, Mahadesh ; Fioretos, Thoas ; Lilljebjörn, Henrik ; Soneji, Shamit ; Lang, Stefan ; Ungerbäck, Jonas ; Sigvardsson, Mikael Yang, Jun J

PLoS genetics, 2019-08, Vol.15 (8), p.e1008280-e1008280 [Periódico revisado por pares]

United States: Public Library of Science

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18
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
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Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Aguiar-Pulido, Vanessa ; Wolujewicz, Paul ; Martinez-Fundichely, Alexander ; Elhaik, Eran ; Thareja, Gaurav ; Abdel Aleem, Alice ; Chalhoub, Nader ; Cuykendall, Tawny ; Al-Zamer, Jamel ; Lei, Yunping ; El-Bashir, Haitham ; Musser, James M ; Al-Kaabi, Abdulla ; Shaw, Gary M ; Khurana, Ekta ; Suhre, Karsten ; Mason, Christopher E ; Elemento, Olivier ; Finnell, Richard H ; Ross, M Elizabeth

Proceedings of the National Academy of Sciences - PNAS, 2021-12, Vol.118 (51) [Periódico revisado por pares]

United States: National Academy of Sciences

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19
Eleven candidate susceptibility genes for common familial colorectal cancer
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Eleven candidate susceptibility genes for common familial colorectal cancer

Gylfe, Alexandra E ; Katainen, Riku ; Kondelin, Johanna ; Tanskanen, Tomas ; Cajuso, Tatiana ; Hänninen, Ulrika ; Taipale, Jussi ; Taipale, Minna ; Renkonen-Sinisalo, Laura ; Järvinen, Heikki ; Mecklin, Jukka-Pekka ; Kilpivaara, Outi ; Pitkänen, Esa ; Vahteristo, Pia ; Tuupanen, Sari ; Karhu, Auli ; Aaltonen, Lauri A Horwitz, Marshall S.

PLoS genetics, 2013-10, Vol.9 (10), p.e1003876-e1003876 [Periódico revisado por pares]

United States: Public Library of Science

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20
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
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Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

Sayyab, Shumaila ; Lundmark, Anders ; Larsson, Malin ; Ringnér, Markus ; Nystedt, Sara ; Marincevic-Zuniga, Yanara ; Tamm, Katja Pokrovskaja ; Abrahamsson, Jonas ; Fogelstrand, Linda ; Heyman, Mats ; Norén-Nyström, Ulrika ; Lönnerholm, Gudmar ; Harila-Saari, Arja ; Berglund, Eva C. ; Nordlund, Jessica ; Syvänen, Ann-Christine

Scientific reports, 2021, Vol.11 (1), p.15988-15988, Article 15988 [Periódico revisado por pares]

London: Nature Publishing Group

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