Osaka University

About: Osaka University is a education organization based out in Osaka, Japan. It is known for research contribution in the topics: Laser & Catalysis. The organization has 83778 authors who have published 185669 publications receiving 5158122 citations. The organization is also known as: Ōsaka daigaku.

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

Abstract: Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries Its susceptibility locus has been mapped to 17q253 in Japanese families, but the susceptibility gene is unknown Methodology/Principal Findings Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q253 (P<10-4) Fine mapping demonstrated a 15-Mb disease locus bounded by D17S1806 and rs2280147 We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria There was a variant of pN321S in PCMTD1 and pR4810K in RNF213 in the 15-Mb locus of the eight index cases The pN321S variant in PCMTD1 could not be confirmed by the Sanger method Sequencing RNF213 in 42 index cases confirmed pR4810K and revealed it to be the only unregistered variant Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except pR4810K A case-control study demonstrated strong association of pR4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 1118 (P = 10−119) Sequencing of RNF213 in East Asian cases revealed additional novel variants: pD4863N, pE4950D, pA5021V, pD5160E, and pE5176G Among Caucasian cases, variants pN3962D, pD4013N, pR4062Q and pP4608S were identified RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain These exhibit ATPase and ubiquitin ligase activities Although the mutant alleles (pR4810K or pD4013N in the RING domain) did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels Conclusions/Significance We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease

Association of Non-Alcoholic Fatty Liver Disease With Chronic Kidney Disease: A Systematic Review and Meta-Analysis

Abstract: Background: Chronic kidney disease (CKD) is a frequent, under-recognized condition and a risk factor for renal failure and cardiovascular disease. Increasing evidence connects non-alcoholic fatty liver disease (NAFLD) to CKD. We conducted a meta-analysis to determine whether the presence and severity of NAFLD are associated with the presence and severity of CKD. Methods and Findings: English and non-English articles from international online databases from 1980 through January 31, 2014 were searched. Observational studies assessing NAFLD by histology, imaging, or biochemistry and defining CKD as either estimated glomerular filtration rate (eGFR) ,60 ml/min/1.73 m 2 or proteinuria were included. Two reviewers extracted studies independently and in duplicate. Individual participant data (IPD) were solicited from all selected studies. Studies providing IPD were combined with studies providing only aggregate data with the two-stage method. Main outcomes were pooled using random-effects models. Sensitivity and subgroup analyses were used to explore sources of heterogeneity and the effect of potential confounders. The influences of age, whole-body/abdominal obesity, homeostasis model of insulin resistance (HOMA-IR), and duration of follow-up on effect estimates were assessed by meta-regression. Thirty-three studies (63,902 participants, 16 population-based and 17 hospital-based, 20 cross-sectional, and 13 longitudinal) were included. For 20 studies (61% of included studies, 11 cross-sectional and nine longitudinal, 29,282 participants), we obtained IPD. NAFLD was associated with an increased risk of prevalent (odds ratio [OR] 2.12, 95% CI 1.69– 2.66) and incident (hazard ratio [HR] 1.79, 95% CI 1.65–1.95) CKD. Non-alcoholic steatohepatitis (NASH) was associated with a higher prevalence (OR 2.53, 95% CI 1.58–4.05) and incidence (HR 2.12, 95% CI 1.42–3.17) of CKD than simple steatosis. Advanced fibrosis was associated with a higher prevalence (OR 5.20, 95% CI 3.14–8.61) and incidence (HR 3.29, 95% CI 2.30– 4.71) of CKD than non-advanced fibrosis. In all analyses, the magnitude and direction of effects remained unaffected by diabetes status, after adjustment for other risk factors, and in other subgroup and meta-regression analyses. In crosssectional and longitudinal studies, the severity of NAFLD was positively associated with CKD stages. Limitations of analysis are the relatively small size of studies utilizing liver histology and the suboptimal sensitivity of ultrasound and biochemistry for NAFLD detection in population-based studies. Conclusion: The presence and severity of NAFLD are associated with an increased risk and severity of CKD. Please see later in the article for the Editors’ Summary.

Keratinocyte‐specific ablation of Stat3 exhibits impaired skin remodeling, but does not affect skin morphogenesis

Abstract: To elucidate the biological role of Stat3 in the skin, conditional gene targeting using the Cre-loxP system was performed as germline Stat3 ablation leads to embryonic lethality. K5-Cre;Stat3(flox/-) transgenic mice, whose epidermal and follicular keratinocytes lack functional Stat3, were viable and the development of epidermis and hair follicles appeared normal. However, hair cycle and wound healing processes were severely compromised. Furthermore, mutant mice expressed sparse hair and developed spontaneously occurring ulcers with age. Growth factor-dependent in vitro migration of Stat3-disrupted keratinocytes was impaired despite normal proliferative responses. We therefore conclude that Stat3 plays a crucial role in transducing a signal required for migration but not for proliferation of keratinocytes, and that Stat3 is essential for skin remodeling, including hair cycle and wound healing.

Printable elastic conductors by in situ formation of silver nanoparticles from silver flakes

Abstract: Printable elastic conductors promise large-area stretchable sensor/actuator networks for healthcare, wearables and robotics Elastomers with metal nanoparticles are one of the best approaches to achieve high performance, but large-area utilization is limited by difficulties in their processability Here we report a printable elastic conductor containing Ag nanoparticles that are formed in situ, solely by mixing micrometre-sized Ag flakes, fluorine rubbers, and surfactant Our printable elastic composites exhibit conductivity higher than 4,000 S cm-1 (highest value: 6,168 S cm-1) at 0% strain, and 935 S cm-1 when stretched up to 400% Ag nanoparticle formation is influenced by the surfactant, heating processes, and elastomer molecular weight, resulting in a drastic improvement of conductivity Fully printed sensor networks for stretchable robots are demonstrated, sensing pressure and temperature accurately, even when stretched over 250%