Yuko Kako

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

Katsuyoshi Horibata, Sayaka Kono, Chie Ishigami, Xue chao Zhang et autres

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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shino Shimada, Keiko Yamamoto Shimojima, Nobuhiko Okamoto, Noriko Sangu et autres

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Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Kenji Shimizu, Keiko Wakui, Tomoki Kosho, Nobuhiko Okamoto et autres

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. …

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A neonate with an anomalous bone attached to the cervical spine

Yuya Nakano, Madoka Aizawa, Yuko Kako, Katsumi Mizuno et autres

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Multiple pathways ensure retinoid delivery to milk: studies in genetically modified mice

Sheila M. O’Byrne, Yuko Kako, Richard Joseph Deckelbaum, Inge H. Hansen et autres

Retinoids are absolutely required for normal growth and development during the postnatal period. We studied the delivery of retinoids to milk, availing of mouse models modified for proteins thought to be essential for this process. Milk retinyl esters were markedly altered in …

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GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome

Satoru Sakazume, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kenji Kurosawa et autres

We analyzed mutations of the GPC3gene in seven males with typical manifestations of Simpson-Golabi-Behmel syndrome (SGBS). Genomic DNA was PCR amplified for its all eight exons and exon-intron boundaries using designed set of primers, and PCR products were directly sequenced. All seven …

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Atherosclerosis in perlecan heterozygous mice

Reeba Kannimel Vikramadithyan, Yuko Kako, Guangping Chen, Yunying Hu et autres

The hypothesis that lipoprotein association with perlecan is atherogenic was tested by studying atherosclerosis in mice that had a heterozygous deletion of perlecan, the primary extracellular heparan sulfate proteoglycan in arteries. We first studied the expression of perlecan in mouse lesions and …

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Mice Expressing Only Covalent Dimeric Heparin Binding-deficient Lipoprotein Lipase

Erlo Lutz, Yuko Kako, Hiroaki Yagyu, Jöerg Heeren et autres

Lipoprotein lipase (LpL) hydrolyzes triglycerides of circulating lipoproteins while bound as homodimers to endothelial cell surface heparan sulfate proteoglycans. This primarily occurs in the capillary beds of muscle and adipose tissue. By creating a mouse line that expresses covalent dimers of heparin-binding …

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Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy

Hiroaki Yagyu, Guangping Chen, Masayoshi Yokoyama, Kumiko Hirata et autres

Lipoprotein lipase is the principal enzyme that hydrolyzes circulating triglycerides and liberates free fatty acids that can be used as energy by cardiac muscle. Although lipoprotein lipase is expressed by and is found on the surface of cardiomyocytes, its transfer to the …

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Routes of FA delivery to cardiac muscle: modulation of lipoprotein lipolysis alters uptake of TG-derived FA

Ayanna S. Augustus, Yuko Kako, Hiroaki Yagyu, Ira J. Goldberg

Long-chain fatty acids (FA) supply 70-80% of the energy needs for normal cardiac muscle. To determine the sources of FA that supply the heart, [(14)C]palmitate complexed to bovine serum albumin and [(3)H]triolein [triglyceride (TG)] incorporated into Intralipid were simultaneously injected into fasted …

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Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy

Hiroaki Yagyu, Guangping Chen, Masayoshi Yokoyama, Kumiko Hirata et autres

Lipoprotein lipase is the principal enzyme that hydrolyzes circulating triglycerides and liberates free fatty acids that can be used as energy by cardiac muscle.Although lipoprotein lipase is expressed by and is found on the surface of cardiomyocytes, its transfer to the luminal …

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Retinol-Binding Protein-Deficient Mice: Biochemical Basis for Impaired Vision

Silke Vogel, Roseann Piantedosi, Sheila M. O’Byrne, Yuko Kako et autres

We reported previously that mice lacking plasma retinol-binding protein (RBP) are phenotypically normal except that they display impaired vision at the time of weaning. This visual defect is associated with greatly diminished eyecup levels of retinaldehyde and is reversible if the mutants …

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