| 概要 |
Pan-Chung-Bellen syndrome (PCBS) is a novel syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. It has been reported that mutations in FRYL cause this syndrome. FRYL (FRY-like transcription coactivator) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. Although the functions of FRYL in mammals are largely unknown, Furry family proteins have diverse functions, including cell polarity maintenance, cell morphogenesis, arborization and tiling of dendrites, and transcriptional regulation.
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| 著者 |
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE, Wangler MF, Yamamoto S, Chung WK, Bellen HJ |
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