Results 61 to 70 of about 580,872 (201)

Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis. [PDF]

, 2017
Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress.
Angel Pujana, Miguel, Brunet, Joan, Chaldekas, Krysta, Chedin, Frederic, Chiang, Huai-Chin, Curiel, Tyler J, Elledge, Richard, Hu, Yanfen, Isaacs, Claudine, Jatoi, Ismail, Jin, Victor X, Lautner, Meeghan, Li, Rong, Mateo, Francesca, Michalek, Joel, Nair, Sreejith J, Ochoa, Oscar, Oliver, Boyce, Peshkin, Beth N, Petit, Anna, Poggi, Elizabeth, Smith, Sabrina, Soler, Teresa, Sun, Lu-Zhe, Theoharis, Constantine, Wang, Howard, Wang, Yao, Zhang, Chi, Zhang, Xiaowen, Zhao, Xiayan   +29 more
core   +2 more sources

Promoter analysis of macrophage- and tick cell-specific differentially expressed Ehrlichia chaffeensis p28-Omp genes

BMC Microbiology, 2009
Background Ehrlichia chaffeensis is a rickettsial agent responsible for an emerging tick-borne illness, human monocytic ehrlichiosis. Recently, we reported that E. chaffeensis protein expression is influenced by macrophage and tick cell environments.
Ganta Roman R, Cheng Chuanmin, Peddireddi Lalitha   +2 more
doaj   +1 more source

Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption

BMC Gastroenterology, 2022
Background While role of ALDOB-related gene variants for hereditary fructose intolerance is well established, contribution of gene variants for acquired fructose malabsorption (e.g. SLC2A5, GLUT5) is not well understood.
Irina Taneva, Dorothee Grumann, Dietmar Schmidt, Elina Taneva, Ulrike von Arnim, Thomas Ansorge, Thomas Wex   +6 more
doaj   +1 more source

Promoter sequence and architecture determine expression variability and confer robustness to genetic variants

eLife, 2022
Genetic and environmental exposures cause variability in gene expression. Although most genes are affected in a population, their effect sizes vary greatly, indicating the existence of regulatory mechanisms that could amplify or attenuate expression ...
Hjörleifur Einarsson, Marco Salvatore, Christian Vaagensø, Nicolas Alcaraz, Jette Bornholdt, Sarah Rennie, Robin Andersson   +6 more
doaj   +1 more source

Functional and genetic characterization of the promoter region of apolipoprotein H (β₂‐glycoprotein I) [PDF]

The FEBS Journal, 2010
This study characterized the human apolipoprotein H [APOH; β2‐glycoprotein I (β2GPI)] promoter and its variants by in vitro functional experiments and investigated their relationship with human plasma β2GPI levels. We examined the individual effects of 12 APOH promoter single nucleotide polymorphisms in the 5′ flanking region of APOH (∼ 1.4 kb) on ...
Susan Manzi, Sangita Suresh, Candace M. Kammerer, M. Ilyas Kamboh, Rosalind Ramsey-Goldman, F. Yesim Demirci, Iliya Lefterov   +6 more
openaire   +3 more sources

Methodology for single nucleotide polymorphism selection in promoter regions for clinical use. An example of its applicability [PDF]

, 2016
Genetic variability in humans can explain many differences in disease risk factors. Polymorphism-related studies focus mainly on the single nucleotide polymorphisms (SNPs) of coding regions of the genes.
Freitas, J., Longatto Filho, Adhemar, Marques, Herlander, Medeiros, Rui   +3 more
core   +1 more source

The influence of the accessory genome on bacterial pathogen evolution [PDF]

, 2011
Bacterial pathogens exhibit significant variation in their genomic content of virulence factors. This reflects the abundance of strategies pathogens evolved to infect host organisms by suppressing host immunity.
Abu-Ali GS, Adiba S, Alfano JR, Arnold DL, Arnold DL, Arnold DL, Asadulghani M, Baharoglu Z, Baquero F, Barash I, Blondel CJ, Blondel CJ, Brüssow H, Cambray G, Chen J, Chen Y, Choi J, Colinon C, Croucher NJ, Dawes FE, De Gelder L, Diard M, Dillon SC, Douard G, Doyle M, Elsaied H, Fondi M, Freeman VJ, Gartemann KH, Gillings MR, Godfrey SAC, Govind R, Greenberg JT, Grillot-Courvalin C, Groisman EA, Guerin E, Hacker J, Hacker J, Halary S, Hassan F, Hazen TH, Hegstad K, Heinemann JA, Heringa S, Hochhut B, Holden MT, Huang L, Imamovic L, Jackson RW, Jackson RW, Jenner C, Joss M, Jové T, Kearney B, Kers JA, Kiiru JN, Koenig JE, Koenig JE, Krauland MG, Landgraf A, Larsson P, Leplae Rl, León G, Lipps HJ, Lloyd AL, Loftie-Eaton W, Lovell HC, Lovell HC, Manning SD, Marchetti M, Matz C, Maurelli AT, Mazel D, Michael CA, Michael CA, Morris CE, Morris CE, Moura A, Naas T, Nadarasah G, Naka H, Nawaz M, Ogura Y, Paauw A, Partridge SR, Pitman A, Poirel L, Poirel L, Ramirez MS, Rankin DJ, Rezzonico F, Rivas LA, Rodriguez-Martinez JM, Rohmer L, Rosewarne CP, Sajjad A, Salanoubat M, Salzberg SL, Seth-Smith H, Shaheen BW, Siguier P, Siguier P, Smillie C, Smith AB, Song H, Sota M, Steinberg KM, Sundin GW, Sundin GW, Tao L, Treangen TJ, van der Meer JR, van der Veen EL, van Essen-Zandbergen A, Wagner A, Waldor MK, Wiesner M, Woodford N, Yang H, Zhou Z, Zupan J   +120 more
core   +2 more sources

Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II

Frontiers in Audiology and Otology
IntroductionWaardenburg syndrome (WS) is a genetic disorder characterized by hearing loss, hypopigmentation, and distinct facial features. Despite > 60% molecular diagnosis rate for WS patients, pathogenic variants within coding regions are ...
Yu Huang, Yu Huang, Jia Geng, Jia Geng, Yang Long, Wenyu Xiong, Wenyu Xiong, Lu Kang, Lu Kang, Meilin Chen, Meilin Chen, Ting Tang, Ting Tang, Mingjun Zhong, Mingjun Zhong, Fengxiao Bu, Fengxiao Bu, Yu Lu, Yu Lu, Jing Cheng, Jing Cheng, Huijun Yuan, Huijun Yuan   +22 more
doaj   +1 more source

A High-Throughput Strategy for Dissecting Mammalian Genetic Interactions. [PDF]

PLoS ONE, 2016
Comprehensive delineation of complex cellular networks requires high-throughput interrogation of genetic interactions. To address this challenge, we describe the development of a multiplex combinatorial strategy to assess pairwise genetic interactions ...
Victoria B Stockman, Lila Ghamsari, Gorka Lasso, Barry Honig, Sagi D Shapira, Harris H Wang   +5 more
doaj   +1 more source

Association Between Promoter Polymorphisms in CD46 and CD59 in Kidney Donors and Transplant Outcome

Frontiers in Immunology, 2018
Complement regulating proteins, including CD46, CD55, and CD59, protect cells against self-damage. Because of their expression on the donor endothelium, they are hypothesized to be involved in accommodation.
Laura A. Michielsen, Arjan D. van Zuilen, Tineke Kardol-Hoefnagel, Marianne C. Verhaar, Henny G. Otten   +4 more
doaj   +1 more source