Article
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.
Diabetes - 1 Apr 2003
Savage David B, Tan Garry D, Acerini Carlo L, Jebb Susan A, Agostini Maura, Gurnell Mark, Williams Rachel L, Umpleby A Margot, Thomas E Louise, Bell Jimmy D, Dixon Adrian K, Dunne Fidelma, Boiani Romina, Cinti Saverio, Vidal-Puig Antonio, Karpe Fredrik, Chatterjee V Krishna K, O'Rahilly Stephen
Abstract excerpt
We previously reported a syndrome of severe hyperinsulinemia and early-onset hypertension in three patients with dominant-negative mutations in the nuclear hormone receptor peroxisome proliferator-activated receptor (PPAR)-gamma. We now report the results of further detailed pathophysiological evaluation of these subjects, the identification of affected prepubertal children within one of the original families,...
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