Journal of Lipid Research, 1999 Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial ...
L. Haddad +5 more
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The use of incomplete family data in the analysis of genetics and selection at the Ng locus in blue grouse (Dendragapus obscurus) [PDF]
, 1973 J. A. Redfield
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ITGAV and SMAD4 influence the progression and clinical outcome of pancreatic ductal adenocarcinoma
Molecular Oncology, EarlyView.In SMAD4‐positive pancreatic ductal adenocarcinoma (PDAC), integrin subunit alpha V (ITGAV) activates latent TGF‐β, which binds to the TGF‐β receptor and phosphorylates SMAD2/3. The activated SMAD2/3 forms a complex with SMAD4, and together they translocate to the nucleus, modulating gene expression to promote proliferation, migration, and invasion. In
Daniel K. C. Lee +9 more
wiley +1 more source
PLoS Genetics, 2009 There is considerable variability in the susceptibility of smokers to develop chronic obstructive pulmonary disease (COPD). The only known genetic risk factor is severe deficiency of alpha(1)-antitrypsin, which is present in 1-2% of individuals with COPD.
Sreekumar G Pillai +18 more
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TWO-LOCUS PROBLEMS IN TRANSMISSION GENETICS OF MITOCHONDRIA AND CHLOROPLASTS [PDF]
, 1980 Tomoko Ohta
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Exploring the role of cyclin D1 in the pathogenesis of multiple myeloma beyond cell cycle regulation
Molecular Oncology, EarlyView.Cyclin D1 overexpression altered the cell adhesion pathway, while cyclin D2 upregulation had less impact on pathway enrichment analysis. Multiple myeloma (MM) patients with cyclin D1 overexpression showed reduced CD56 expression and increased circulating tumor cells (CTC) levels, suggesting that cyclin D1 may contribute to MM cell dissemination ...
Ignacio J. Cardona‐Benavides +13 more
wiley +1 more source
The population genetics of the self-incompatibility polymorphism in Papaver rhoeas. IX. Evidence of an extra effect of selection acting on the S-locus [PDF]
, 1994 Michael Lawrence +1 more
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Molecular Oncology, EarlyView.Small extracellular vesicles are a promising source of diagnostic molecules. We conducted a comprehensive study, including transcriptome profiling and RT‐qPCR validation on large cohorts of samples. Diagnostic panels enabling sensitive detection of colorectal cancer and precancerous lesions were established. Some molecules were differentially expressed
Petra Vychytilova‐Faltejskova +26 more
wiley +1 more source
Arlequin (version 3.0): An integrated software package for population genetics data analysis
Evolutionary Bioinformatics, 2005 Arlequin ver 3.0 is a software package integrating several basic and advanced methods for population genetics data analysis, like the computation of standard genetic diversity indices, the estimation of allele and haplotype frequencies, tests of ...
Laurent Excoffier +2 more
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Allele-specific behavior of molecular networks: understanding small-molecule drug response in yeast.
PLoS ONE, 2013 The study of systems genetics is changing the way the genetic and molecular basis of phenotypic variation, such as disease susceptibility and drug response, is being analyzed.
Fan Zhang +10 more
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