Now showing items 81-90 of 133
Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population
(Springer-Verlag, 2003-09)
Enzymes encoded by two gene families, alcohol dehydrogenase ( ADH ) and aldehyde dehydrogenase ( ALDH ), mediate alcohol metabolism in humans. Allelic variants have been identified that alter metabolic rates and influence ...
Using ProHits to Store, Annotate, and Analyze Affinity Purificationâ Mass Spectrometry (APâ MS) Data
(Wiley Periodicals, Inc., 2012-09)
Affinity purification coupled with mass spectrometry (APâ MS) is a robust technique used to identify proteinâ protein interactions. With recent improvements in sample preparation, and dramatic advances in MS instrumentation ...
Evaluating the Calibration and Power of Three Gene‐Based Association Tests of Rare Variants for the X Chromosome
(Wiley Periodicals, Inc., 2015-11)
Although genome‐wide association studies (GWAS) have identified thousands of trait‐associated genetic variants, there are relatively few findings on the X chromosome. For analysis of low‐frequency variants (minor allele ...
Novel Likelihood Ratio Tests for Screening Gene‐Gene and Gene‐Environment Interactions With Unbalanced Repeated‐Measures Data
(Van Nostrand ReinholdWiley Periodicals, Inc., 2013-09)
There has been extensive literature on modeling gene‐gene interaction (GGI) and gene‐environment interaction (GEI) in case‐control studies with limited literature on statistical methods for GGI and GEI in longitudinal ...
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
(Springer-Verlag, 2000-07)
Blue cone monochromacy (BCM) is an X-linked ocular disease characterized by poor visual acuity, nystagmus, and photodysphoria in males with severely reduced color discrimination. Deletions, rearrangements and point mutations ...
Contrasting multi-site genotypic distributions among discordant quantitative phenotypes: the APOA1/C3/A4/A5 gene cluster and cardiovascular disease risk factors
(Wiley Subscription Services, Inc., A Wiley Company, 2006-09)
Most tests of association between DNA sequence variation and quantitative phenotypes in samples of randomly chosen individuals rely on specification of genotypic strata followed by comparison of phenotypes across these ...
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II
(Springer-Verlag, 2004-08)
The dentin sialophosphoprotein (DSPP) gene (4q21.3) encodes two major noncollagenous dentin matrix proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Defects in the human gene encoding DSPP cause inherited ...
Comprehensive linkage and linkage heterogeneity analysis of 4344 sibling pairs affected with hypertension from the Family Blood Pressure Program
(Wiley Subscription Services, Inc., A Wiley Company, 2007-04)
Linkage analyses of complex, multifactorial traits and diseases, such as essential hypertension, have been difficult to interpret and reconcile. Many published studies provide evidence suggesting that different genes and ...
Restituting intestinal epithelial cells exhibit increased transducibility by adenoviral vectors
(John Wiley & Sons, Ltd., 2006-12)
Background and aims While mature enterocytes are resistant to transduction by adenovirus type 5 (Ad5) vectors, undifferentiated cells are transduced much more efficiently. Our purpose was to study enterocyte transduction ...
Bayesian EM algorithm for scoring polymorphic deletions from SNP data and application to a common CNV on 8q24
(Wiley Subscription Services, Inc., A Wiley Company, 2009-05)
Copy number variations (CNVs) in the human genome provide exciting candidates for functional polymorphisms. Hence, we now assess association between CNV carrier status and diseases status by evaluating the signal intensity ...