19 research outputs found
Bradykinin-activated contractile signalling pathways in human myometrial cells are differentially regulated by arrestin proteins
Regional problem or regional crisis Issues in theory and policy with reference to post-war Greece
2 volsSIGLEAvailable from British Library Lending Division - LD:D56238/85 / BLDSC - British Library Document Supply CentreGBUnited Kingdo
An ivestigation of the development of clinical nursing capability
Available from British Library Document Supply Centre-DSC:DXN052048 / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo
Gender and primary schooling in Uganda Partnership for strategic resource planning for girls' education in Africa
SIGLEAvailable from British Library Document Supply Centre-DSC:7762.3527(42) / BLDSC - British Library Document Supply CentreGBUnited Kingdo
Gender and primary schooling in Uganda Partnership for strategic resource planning for girls' education in Africa
SIGLEAvailable from British Library Document Supply Centre-DSC:7762.3527(42) / BLDSC - British Library Document Supply CentreGBUnited Kingdo
Development of Thermal Films for Greenhouse Applications Using Long Infrared Radiation Absorbers
Asset ownership among households caring for orphans and vulnerable children in rural Zimbabwe: The influence of ownership on children's health and social vulnerabilities
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
Item does not contain fulltextAt least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas (APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in ATP1A1 and ATP2A3 were reported to occur in APAs. We find that KCNJ5 mutations are common in APAs resembling cortisol-secreting cells of the adrenal zona fasciculata but are absent in a subset of APAs resembling the aldosterone-secreting cells of the adrenal zona glomerulosa. We performed exome sequencing of ten zona glomerulosa-like APAs and identified nine with somatic mutations in either ATP1A1, encoding the Na(+)/K(+) ATPase alpha1 subunit, or CACNA1D, encoding Cav1.3. The ATP1A1 mutations all caused inward leak currents under physiological conditions, and the CACNA1D mutations induced a shift of voltage-dependent gating to more negative voltages, suppressed inactivation or increased currents. Many APAs with these mutations were <1 cm in diameter and had been overlooked on conventional adrenal imaging. Recognition of the distinct genotype and phenotype for this subset of APAs could facilitate diagnosis