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

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