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  1. No Access

    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

    Functional analysis of the p57 KIP2 gene mutation in Beckwith-Wiedemann syndrome

    p57 KIP2 is a potent tight-binding inhibitor of several G1 cyclin/cyclin-dependent kinase (Cdk) complexes, and is a negative regulator of cell proliferation. The gene encoding ...

    Zahurul A. Bhuiyan, Hitomi Yatsuki, Toshiyuki Sasaguri, Keiichiro Joh… in Human Genetics (1999)

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    Article

    New p57KIP2 mutations in Beckwith-Wiedemann syndrome

    Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage ana...

    I. Hatada, Akira Nabetani, Hiroko Morisaki, Zhenghan **n, Sachiko Ohishi… in Human Genetics (1997)

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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)