Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. Interestingly, Shp2 catalytic activity is enhanced by NSmutations and reduced by LS mutations. Defective cardiac development is a prominent symptom of both NS and LS, but how the Shp2 variants affect cardiac devel...

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The organic anion-transporting polypeptide (OATP) 1B3 is a membrane transport protein that mediates hepatic uptake of many drugs and endogenous compounds. Currently, determination of OATP-mediated drug-drug interactions in vitro is focused primarily on direct substrate inhibition. Indirect inhibition of OATP1B3 activity is under-appreciated. OATP1B3 has putative protein kinase C (PKC) phosphory...

They enthusiastically agreed that there was a need for such a journal. It seemed likely that the Coordinating Committee for a Nationwide Stroke Program would become the Stroke Council of the American Heart Association (AHA). Such a council would provide a logical administrative structure on which to found the journal. In December 1966, the Central Committee of AHA approved the request for counc...

The health-related QOL (HRQOL) has been used extensively in clinical and epidemiological research and health service studies. Especially, the Medical Outcome Study Short-form 36-Item Health Survey (SF-36) is a widely used health status measure. However, a Korean version has not been developed and tested yet. The purpose of this study was to develop a Korean version of the Short-form Health Surv...

400 CLINICAL CHEMISTRY, Vol. 29, No. 2, 1983 12. Carson NAJ, Scally BG, Neill DW, Carre IJ. Saccharopinuria: A new inborn error of lysine metabolism. Nature (London) 281, 679 (19681. 13. Wick H, Brechbuhler T, Girard J. Citrullinemia: Elevated serum citrulline levels in healthy siblings. Experientia 26, 823824 (1970). 14. Qureshi JA, Letarte J, Queflet R, Lemieux B. Enzymologic and metabolic st...

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BACKGROUND Health-related quality of life (QoL) has become a crucial outcome in medical care. However, few studies have assessed physician knowledge of QoL and rate of physicians adopting QoL measures in clinical practice. The present study aimed at assessing the level of knowledge of QoL and the perceived importance of incorporating QoL assessment in clinical practice among physicians of a ter...

BACKGROUND If the SF-36 summary scores are used as health status measures for the purpose of measuring health inequality it is relevant to be informed about the sources of the inequality in order to be able to target the specific aspects of health with the largest impact. METHODS Data were from a Danish health survey on health status, health behaviour and socio-economic background. Decomposit...