Results 91 to 100 of about 209,468 (302)

UMOD Genotype and Clinical Outcomes in Heart Failure Patients Treated with Loop Diuretics: A UK Biobank Pharmacogenetic Cohort Study

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Uromodulin (UMOD) regulates tubular sodium handling and modulates NKCC2, the molecular target of loop diuretics (LD). Although UMOD variants have been associated with blood pressure and hypertension, their pharmacogenetic relevance in heart failure (HF) remains unknown.
Reinhold Kreutz   +5 more
wiley   +1 more source

Discovery of Single Nucleotide Polymorphisms in Complex Genomes Using SGSautoSNP

open access: yesBiology, 2012
Single nucleotide polymorphisms (SNPs) are becoming the dominant form of molecular marker for genetic and genomic analysis. The advances in second generation DNA sequencing provide opportunities to identify very large numbers of SNPs in a range of ...
Jacqueline Batley   +10 more
doaj   +1 more source

No evidence of a significant role for CTLA-4 in multiple sclerosis [PDF]

open access: yes, 2006
Variation in the cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene plays a significant role in determining susceptibility to autoimmune thyroid disease and type 1 diabetes. Its role in multiple sclerosis is more controversial. In order to explore
Maranian, M   +7 more
core  

Haplotype frequencies.

open access: yes, 2018
Haplotype frequencies.
Ravi P. Singh (1849204)   +11 more
core   +1 more source

Characterization of NAT2 Using Long‐Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
The NAT2 pharmacogene is essential in drug metabolism, particularly for aromatic amines and hydrazines. Genetic variations in NAT2 categorize individuals as rapid, intermediate, or poor metabolizers based on their acetylation capacity to inform dosing guidelines.
Shobana John   +4 more
wiley   +1 more source

Modeling Haplotype-Haplotype Interactions in Case-Control Genetic Association Studies

open access: yesFrontiers in Genetics, 2012
Haplotype analysis has been increasingly used to study the genetic basis of human diseases, but models for characterizing genetic interactions between haplotypes from different chromosomal regions have not been well developed in the current literature ...
Li eZhang   +4 more
doaj   +1 more source

Diploid Alignments and Haplotyping [PDF]

open access: yes, 2015
Sequence alignments have been studied for decades under the simplified model of a consensus sequence representing a chromosome. A natural question is if there is some more accurate notion of alignment for diploid (and in general, polyploid) organisms.
Veli Mäkinen, Daniel Valenzuela 0001
openaire   +2 more sources

Haplotype frequencies estimated for the CRS population compared to the haplotype frequencies of the EUR population.

open access: yes, 2016
Haplotype frequencies estimated for the CRS population compared to the haplotype frequencies of the EUR population.
Christina Lind-Halldén (3163089)   +6 more
core   +1 more source

Clinical Significance of Acute Kidney Injury in Idiosyncratic Drug‐Induced Liver Injury: A Multicentric Propensity Scores Matched Study

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Clinical significance of acute kidney injury in idiosyncratic drug‐induced liver injury: a multicentric propensity scores matched study. Evidence about the role of acute kidney injury (AKI) in idiosyncratic drug‐induced liver injury (DILI) is still scarce.
José María Pinazo‐Bandera   +15 more
wiley   +1 more source

Haplotype List

open access: yes, 2017
Haplotype ...
Victoriano, Pedro F.   +13 more
core   +1 more source

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