Results 21 to 30 of about 313,548 (70)

Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation.

Pharmacology and Therapeutics, 2013
Cytochromes P450 (CYP) are a major source of variability in drug pharmacokinetics and response. Of 57 putatively functional human CYPs only about a dozen enzymes, belonging to the CYP1, 2, and 3 families, are responsible for the biotransformation of most
U. Zanger, M. Schwab
semanticscholar   +1 more source

The GTEx Consortium atlas of genetic regulatory effects across human tissues

Science, 2019
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations.
F. Aguet, A. Barbeira, Rodrigo Bonazzola, A. Brown, S. Castel, Brian Jo, S. Kasela, Sarah Kim-Hellmuth, Yanyu Liang, Meritxell Oliva, P. Parsana, Elise D. Flynn, L. Frésard, Eric R Gaamzon, Andrew R. Hamel, Yuan He, F. Hormozdiari, P. Mohammadi, Manuel Muñoz-Aguirre, YoSon Park, A. Saha, Ayellet V Segrć, B. Strober, Xiaoquan Wen, Valentin Wucher, Sayantani Das, D. Garrido-Martín, Nicole R. Gay, R. Handsaker, Paul J. Hoffman, Seva Kashin, Alan M. Kwong, Xiao Li, D. MacArthur, J. Rouhana, M. Stephens, E. Todres, A. Viñuela, Gao Wang, Yuxin Zou, Christopher D. Brown, N. Cox, E. Dermitzakis, B. Engelhardt, G. Getz, R. Guigó, S. Montgomery, Barbara E. Stranger, H. Im, A. Battle, K. Ardlie, T. Lappalainen   +51 more
semanticscholar   +1 more source

Clinical Findings and Genetic Expression Profiling of Three Pigmented Lesions of the Optic Nerve

Case Reports in Ophthalmological Medicine, 2015
Background. Optic disk melanocytoma is a primary tumor of the optic disk that represents a clinical diagnostic challenge due to its similarities with melanoma. Purpose.
Manuel A. de Alba, V. Villegas, Aaron S. Gold, Andrea C. Wildner, F. Ehlies, Azeema Latiff, T. Murray   +6 more
semanticscholar   +1 more source

Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis

Genetic Testing and Molecular Biomarkers, 2020
Background: Otosclerosis (OTSC) is a genetically heterogeneous disorder, characterized by abnormal bone growth in the middle ear, affecting the stapes bone.
Kirtal Hansdah, Neha Singh, A. Bouzid, Saurabh Priyadarshi, C. Ray, Ashim Desai, K. C. Panda, J. C. Choudhury, Narayan Chandra Biswal, A. Tekari, S. Masmoudi, P. V. Ramchander   +11 more
semanticscholar   +1 more source

Functional mapping and annotation of genetic associations with FUMA

Nature Communications, 2017
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal variants. Results from GWAS typically do not directly translate into causal variants because the majority of hits are in non-coding or intergenic regions, and the ...
Kyoko Watanabe, E. Taskesen, Arjen van Bochoven, D. Posthuma   +3 more
semanticscholar   +1 more source

Constraining genetic symbolic regression via semantic backpropagation [PDF]

Genetic Programming and Evolvable Machines
Evolutionary symbolic regression approaches are powerful tools that can approximate an explicit mapping between input features and observation for various problems.
M. Reissmann, Yuan Fang, Andrew S. H. Ooi, Richard D. Sandberg   +3 more
semanticscholar   +1 more source

Mechanotransduction: Relevance to Physical Therapist Practice—Understanding Our Ability to Affect Genetic Expression Through Mechanical Forces

Physical Therapy, 2015
Sharon Dunn, M. Olmedo
semanticscholar   +1 more source

Exploring the metabolic and genetic control of gene expression on a genomic scale.

Science, 1997
J. Derisi, V. Iyer, P. Brown
semanticscholar   +1 more source

(Epi)genetic Aspects of Metabolic Syndrome Pathogenesis in Relation to Brain-derived Neurotrophic Factor Expression: A Review

Gene Expression
N. Todosenko, K. Yurova, O. Khaziakhmatova, M. Vulf, M. Bograya, Pavel Ivanov, L. Litvinova   +6 more
semanticscholar   +1 more source

Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression

Nature Genetics, 2001
P. Kuehl, Jiong Zhang, Yvonne S. Lin, J. Lamba, M. Assem, J. Schuetz, P. Watkins, A. Daly, S. Wrighton, S. Hall, P. Maurel, M. Relling, Cynthia Brimer, K. Yasuda, R. Venkataramanan, S. Strom, K. Thummel, M. Boguski, E. Schuetz   +18 more
semanticscholar   +1 more source