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within Hiroko Morisaki Remove this filter Animal Genetics and Genomics Remove this filter Gene Function Remove this filter

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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). ...

    Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama… in Nature Genetics (2004)

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    Article

    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 ...

    Izuho Hatada, Hirofumi Ohashi, Yoshimitsu Fukushima, Yasuhiko Kaneko… in Nature Genetics (1996)