Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.To determine the clinical phenotypes from EMRs for individuals with […]

Human islet preparations distributed for research exhibit a variety of insulin-secretory profiles.

Human islet research is providing new insights into human islet biology and diabetes, using islets isolated at multiple US centers from donors with varying characteristics. This creates challenges for understanding, interpreting, and integrating research findings from the many laboratories that use these islets. In what is, to our knowledge, the first standardized assessment of human […]

Associations between KCNJ6 (GIRK2) gene polymorphisms and pain-related phenotypes.

G-protein coupled inwardly rectifying potassium (GIRK) channels are effectors determining degree of analgesia experienced upon opioid receptor activation by endogenous and exogenous opioids. The impact of GIRK-related genetic variation on human pain responses has received little research attention. We used a tag single nucleotide polymorphism (SNP) approach to comprehensively examine pain-related effects of KCNJ3 (GIRK1) […]

Associations between KCNJ6 (GIRK2) gene polymorphisms and pain-related phenotypes.

Bruehl S, Denton JS, Lonergan D, Koran ME, Chont M, Sobey C, Fernando S, Bush WS, Mishra P, Thornton-Wells TA,. G-protein coupled inwardly rectifying potassium (GIRK) channels are effectors determining degree of analgesia experienced upon opioid receptor activation by endogenous and exogenous opioids. The impact of GIRK-related genetic variation on human pain responses has received […]