Foramina parietalia permagna (FPP) is an autosomal dominant condition characterized by cranial defects of the parietal bones. It can be present as an isolated feature, but it is also one of the ...characteristics of a contiguous gene syndrome associated with deletions on chromosome 11p11-p12. One of the proteins known to be involved in skull development is the MSX2 homeobox protein. Previously, MSX2 has been shown to be mutated in patients suffering from Boston type craniosynostosis. We have now analyzed the MSX2 gene in five families affected with FPP. An intragenic microsatellite marker did not reveal any recombination and a cumulated LOD score of +3.2 at theta = 0 was obtained. Sequence analysis further showed that in four out of five families an MSX2 mutation was responsible for the skull defect. Moreover, it appears that FPP is caused by haplo-insufficiency of the MSX2 gene. This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.
Pearl Harbor. December 7, 1941--in the words of President Franklin Roosevelt, "a date which will live in infamy." More than 350 Japanese bombers, fighters, and torpedo planes struck Hawai'i in two ...waves, sinking or disabling eighteen ships and destroying more than two hundred aircraft. Close to 2,500 American military and civilians died that morning, another 1,178 were wounded. The Hawaiian Islands had been pulled into the Pacific War and the lives of its citizens were irrevocably changed. Hawai'i Chronicles III: World War Two in Hawai'i looks at the human and social impact of the war on the people of Hawai'i from 1938, when speculation of a Pacific War first surfaced, to the era of postwar prosperity that followed. Editor Bob Dye has selected articles that originally appeared in the popular monthly magazine Paradise of the Pacific (now known as Honolulu magazine). An introduction describes the history of the magazine and the colorful characters who published and edited it. Dye then poses the question: How did Hawai'i's citizenry cope with the war? Blackouts, media censorship, gas and food rationing were imposed. Schools were commandeered, jobs were changed or modified to support the war effort (lei makers were set to making camouflage netting). And soldiers were everywhere: stringing barbed wire (along Waikiki Beach!), guarding public buildings and searching anyone who entered, worrying parents when they dated their daughters. Paradise of the Pacific provided its readers with an informative, perceptive, and often entertaining look at these and other everyday experiences of life in wartime Hawai'i.
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