Results 251 to 260 of about 342,848 (311)

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

Acute caffeine treatment protects the developing retina from ischemia‐induced cell death

FEBS Open Bio, EarlyView.
Caffeine reduces cell death in the developing retina under ischemia (OGD). This effect does not involve BDNF upregulation or antioxidant pathways (NRF2/VEGF). Neuroprotection occurs mainly through adenosine A2A receptor antagonism, decreasing glutamate release and excitotoxicity, highlighting caffeine's potential as an acute neuroprotective agent in ...
Amanda Alves Nascimento, Danniel Pereira‐Figueiredo, Gabriella Grossi de Lima Dias, Gabriel Ferreira dos Santos, Mariana Rodrigues Pereira, Rafael Brito, Karin C Calaza   +6 more
wiley   +1 more source

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Genetic linkage studies

Lancet, The, 2005
Linkage analysis is used to map genetic loci by use of observations of related individuals. We provide an introduction to methods commonly used to map loci that predispose to disease. Linkage analysis methods can be applied to both major gene disorders (parametric linkage) and complex diseases (model-free or non-parametric linkage).
Jenny Barrett, Marion Dawn Teare
exaly   +3 more sources

Writings on Genetic Linkage in the Annals [PDF]

Annals of Human Genetics, 2011
SummaryFrom its inception in 1925 through the almost 30 years that it carried the title of Annals of Eugenics, this journal published numerous articles on the statistical aspects of genetic linkage analysis and its applications to family pedigree data. This overview discusses 40 papers on linkage analysis published in the Annals.
Ott, Jurg, Ott, J (reprint author), Chinese Acad Sci, Inst Psychol, 4A Datun Rd, Beijing 100101, Peoples R China.   +1 more
openaire   +3 more sources

Genetic linkage analysis in the age of whole-genome sequencing [PDF]

Nature Reviews Genetics, 2015
For many years, linkage analysis was the primary tool used for the genetic mapping of Mendelian and complex traits with familial aggregation. Linkage analysis was largely supplanted by the wide adoption of genome-wide association studies (GWASs). However,
Jürg Ott, Suzanne M Leal, Leal Suzanne M   +2 more
exaly   +1 more source

Tests for Genetic Linkage and Homogeneity

Biometrics, 1995
This report concerns likelihood ratio tests in a heterogeneous model for linkage, where the recombination fraction has a binomial mixture distribution with an unknown proportion of unlinked families. We consider families of unequal sizes with known or unknown phase data.
Lemdani, M., Pons, O.
openaire   +4 more sources

Genetic Linkage and Hemochromatosis

New England Journal of Medicine, 1979
The two articles on hemochromatosis in this issue, by Beaumont and her colleagues from Rennes, France, and by Cartwright and his associates from Salt Lake City, Utah, show how genetic-linkage studi...
openaire   +2 more sources

A genetic linkage study of choroideremia

Ophthalmic Paediatrics and Genetics, 1986
One hundred and twenty-two members of 15 choroideremia families have been used in a genetic linkage study of choroideremia (TCD) using four DNA probes situated on the X chromosome. Linkage was analysed using DNA probes DXS14 (p58-1), DXYS1 (pDP 34), DXS178 (p212) and DXS177 (lambda 2.7).
M, Jay, A F, Wright, J F, Clayton, M, Deans, M, Dempster, S S, Bhattacharya, B, Jay   +6 more
openaire   +3 more sources

Linkage equilibrium and genetic algorithms

Proceedings of 1997 IEEE International Conference on Evolutionary Computation (ICEC '97), 2002
The mathematical analysis of recombination/crossover in population genetics and genetic algorithms is very difficult. We investigate a result from H. Geiringer (1944), which states that by repeated applications of the recombination operator alone (with no selective pressure) the gene frequencies of diploid organisms converge to linkage equilibrium. The
Uday Kumar Chakraborty, Heinz Mühlenbein   +1 more
openaire   +1 more source