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Ohura T Kobayashi K Tazawa Y Nishi I Abukawa D Sakamoto O Iinuma K Saheki T 《Human genetics》2001,108(2):87-90
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening. DNA analyses of SLC25A13 revealed that one patient was a compound heterozygote for the 851de14 and IVS11+IG-->A mutations and two patients (siblings) were homozygotes for the IVS11+lG-->A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 in children. 相似文献
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Zhang W Abukawa H Troulis MJ Kaban LB Vacanti JP Yelick PC 《Methods (San Diego, Calif.)》2009,47(2):122-128
Proper rehabilitation of craniofacial defects is challenging because of the complexity of the anatomy and the component tissue types. The ability to simultaneously coordinate the regeneration of multiple tissues would make reconstruction more efficient and might reduce morbidity and improve outcomes. The craniofacial complex is unique because of the presence of teeth, in addition to skin, bone, cartilage, muscle, vascular, and neural tissues since teeth naturally grow in coordination with the craniofacial skeleton, our group developed an autologous, tooth-bone hybrid model to facilitate repair of mandibular defects in the Yucatan minipig. The hybrid tooth-bone construct was prepared by combining tooth bud cell-seeded scaffolds with autologous iliac crest bone marrow derived stem cell-seeded scaffolds, which were transplanted back into surgically created mandibular defects in the same minipig. The constructs were harvested after 12 and 20 weeks of growth. The resulting bone/tooth constructs were evaluated by X-ray, ultra high-resolution volume computed tomography (VCT), histological, immunohistochemical analyses, and transmission electron microscopy (TEM). The observed formation of small tooth-like structures consisting of organized dentin, enamel, pulp, cementum, periodontal ligament, and surrounded by regenerated alveolar bone, suggests the feasibility for regeneration of teeth and associated alveolar bone, in a single procedure. This model provides an accessible method for future clinical applications in humans. 相似文献
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Kazuki Abukawa Masumi Yamamuro Zaal Kikvidze Akira Asada Chunhui Xu Kenichi Sugimoto 《Limnology》2013,14(1):39-42
Here we report on an advanced survey system that combines multibeam echo sounding with underwater photography, which was used to collect accurate data on the distribution and abundance of submerged aquatic vegetation (SAV) in Lake Towada. The use of this system enabled us to visualize the cover, height, and biomass of the SAV over the lake bottom, as well as to distinguish between different components of the SAV such as vascular and algal plants. The spatial distributions of these major components of the SAV varied as a function of the depth gradient. The vascular component was mostly represented by Potamogeton species, which accounted for around one-third of the standing mass of SAV, whilst more than half of the SAV was algal (charophytes). This abundance of charophytes may well be responsible for the high water quality and transparency of Lake Towada. 相似文献
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Laura N. Bull Jenneke A. Juijn Mira Liao Michiel J. T. van Eijk Richard J. Sinke Nicole L. Stricker Joseph A. DeYoung Victoria E. H. Carlton Siamak Baharloo L. W. J. Klomp Daiki Abukawa David E. Barton Nathan M. Bass Billy Bourke Brendan Drumm Irena Jankowska Piero Lovisetto Shirley McQuaid Joanna Pawlowska Yusaku Tazawa Erica Villa Niels Tygstrup Ruud Berger Alexander S. Knisely Roderick H. J. Houwen N. B. Freimer 《Human genetics》1999,104(3):241-248
Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic
cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolated
populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders,
drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led
to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible
caveats regarding this method of genetic mapping.
Received: 21 September 1998 / Accepted: 29 December 1998 相似文献
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Kaneko K Kawakami S Miyoshi M Abukawa T Yamanaka S Mochizuki M Yoshihara S 《Theriogenology》1997,48(4):617-624
To determine the effect of retained placenta on the characteristics of the intrauterine environment in dairy cows, bacteriological and cytological tests were performed on intrauterine perfusion fluid. The rate of cows with more than 70% neutrophils or fewer than 40% lymphocytes in inflammatory cells was 48.0% (12/25), while the rate and with more than 50 bacterial colonies/0.1 ml of perfusate was 96.0% (24/25) at 30 d after parturition. Actinomyces pyogenes was isolated from 56.0% (14/25). At 60 d after parturition, however, these values were significantly improved to 20.0% (5/25), 48.0% (12/25) and 12.0% (3/25), respectively. No significant differences in subsequent reproductive performance were observed between cows with and without retained placenta. The results suggest that injury to the intrauterine environment caused by retained placenta is largely healed by 60 d after parturition. 相似文献
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