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An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated ...
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Article
Heterozygous TGFBR2 mutations in Marfan syndrome
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1). ...