Results 51 to 60 of about 552,746 (191)

Genetic polymorphism of the Nrf2 promoter region is associated with vitiligo risk in Han Chinese populations [PDF]

Journal of Cellular and Molecular Medicine, 2016
AbstractThe nuclear factor erythroid‐derived two‐like 2‐antioxidant response element (Nrf2‐ARE) pathway and its downstream antioxidant enzyme heme oxygenase‐1 (HMOX1 or HO‐1) play essential roles in H2O2‐induced oxidative damage in human melanocytes. However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress‐related ...
Ling Liu, Pu Song, Xiaowen Wang, Weigang Zhang, Tianwen Gao, Chunying Li, Gang Wang, Zhe Jian, Kai Li   +8 more
openaire   +3 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

Genotype to phenotype mapping and the fitness landscape of the E. coli lac promoter [PDF]

PloS One, 8(5), e61570 2013, 2012
Genotype-to-phenotype maps and the related fitness landscapes that include epistatic interactions are difficult to measure because of their high dimensional structure. Here we construct such a map using the recently collected corpora of high-throughput sequence data from the 75 base pairs long mutagenized E.
arxiv   +1 more source

A genetic variation of the p38β promoter region is correlated with an increased risk of sporadic colorectal cancer

Oncology Letters, 2013
p38 plays a critical role in the proliferation, survival, migration and metastasis of colorectal cancer (CRC) cells. The present study assessed the correlation between a single nucleotide polymorphism (SNP) in the p38β promoter region (rs2235356, -1628A>G) and the predisposition of individuals to sporadic CRC in a case-control study.
Qinghua Huang, Jiachun Lu, Yisheng Wei, Dianke Chen, Xinhui Fu, Jianping Wang, Shunxin Song, Lei Wang   +7 more
openaire   +4 more sources

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

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

GAtor: A First Principles Genetic Algorithm for Molecular Crystal Structure Prediction [PDF]

, 2018
We present the implementation of GAtor, a massively parallel, first principles genetic algorithm (GA) for molecular crystal structure prediction. GAtor is written in Python and currently interfaces with the FHI-aims code to perform local optimizations and energy evaluations using dispersion-inclusive density functional theory (DFT).
arxiv   +1 more source

Sex-specific ultraviolet radiation tolerance across Drosophila [PDF]

arXiv, 2023
The genetic basis of phenotypic differences between species is among the most longstanding questions in evolutionary biology. How new genes form and the processes selection acts to produce differences across species are fundamental to understand how species persist and evolve in an ever-changing environment.
arxiv