BACKGROUND The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation ...

To my parents. iii ACKNOWLEDGEMENTS Foremost, I would like to express my sincere gratitude to my research advisor Prof. Faramarz Fekri for his continuous encouragement, advice, and guidance. Throughout the last two years, I have enjoyed his company as a supportive and insightful friend rather than a formal research advisor. My sincere thanks go to my incredible friends Amir Hossein, Mehrsa, and...

I examine how firms use alliances to respond to the alliance networks of their rivals, by either allying with their rivals’ partners or by building countervailing alliances. Evidence from the global airline industry (1994–98) suggests that these strategic responses depend on alliance cospecialization. Cospecialized alliances by rivals may involve exclusivity, precluding alliances with the rival...

NE as a prediction for the outcome of a game requires that each player (1) know the equilibrium of the game and (2) correctly expects it to be played. Then and then only, will each player have no incentive to unilaterally deviate from his equilibrium strategy as he expects his rivals to play their equilibrium strategies. The two assumptions are sensible if a game has been played a number of tim...

This case study examines three strategic questions that India’s largest software services firm, Tata Consultancy Services (TCS), faced in 2003. TCS had pioneered the industry and remained the market leader; of late, its lead over domestic rivals had been slipping, even while much larger multinational rivals were establishing large Indian operations. TCS needed a strategy to move up the software...

In presenting evidence in favor of rational partisan cycles, where electoral victories by leftist parties are expected to create temporary expansions and electoral victories by rightist parties are expected to create temporary recessions, Alesina, Cohen, and Roubini (1999) rely upon autoregressive time series intervention regressions. These regressions, however, are not consistent with their mo...

Weighted Partial Ballots (WPB) is a tabulation system that ranks teams based on point differential and opponent strength. Instead of counting every ballot as a win or loss, teams earn partial ballots based on point differential. The partial ballots earned are then weighted by the amount of partial ballots earned by the opposing team. WPB corrects the bias of traditional tabbing for narrow victo...

Both the amino-terminal and carboxyl-terminal domains of IGF binding protein (IGFBP)-3 are believed to contribute to high-affinity IGF binding. To investigate cooperativity in IGF binding by these domains, we expressed IGFBP-3 fragments 1-88 (NBP-3) and 185-264 (CBP-3) as FLAG and hexahistidine-tagged fusion proteins, respectively. IGF-I and IGF-II bound to NBP-3 poorly and to CBP-3 with modera...