1.

論文(リポジトリ)

論文(リポジトリ)
Trautmann, Agnes ; Vivarelli, Marina ; Samuel, Susan ; Gipson, Debbie ; Sinha, Aditi ; Schaefer, Franz ; Hui, Ng Kar ; Boyer, Olivia ; Saleem, Moin A ; Feltran, Luciana ; Müller-Deile, Janina ; Becker, Jan Ulrich ; Cano, Francisco ; Xu, Hong ; Lim, Yam Ngo ; Smoyer, William ; Anochie, Ifeoma ; Nakanishi, Koichi ; Hodson, Elisabeth ; Haffner, Dieter ; International Pediatric Nephrology Association
出版情報: Pediatric Nephrology.  35  pp.1529-1561,  2020-05-07.  Springer
URL: http://hdl.handle.net/20.500.12000/46947
概要: Idiopathic nephrotic syndrome newly affects 1–3 per 100,000 children per year. Approximately 85% of cases show complete remission of proteinuria following glucocorticoid treatment. Patients who do not achieve complete remission within 4–6 weeks of glucocorticoid treatment have steroid-resistant nephrotic syndrome (SRNS). In 10–30% of steroid-resistant patients, mutations in podocyte-associated genes can be detected, whereas an undefined circulating factor of immune origin is assumed in the remaining ones. Diagnosis and management of SRNS is a great challenge due to its heterogeneous etiology, frequent lack of remission by further immunosuppressive treatment, and severe complications including the development of end-stage kidney disease and recurrence after renal transplantation. A team of experts including pediatric nephrologists and renal geneticists from the International Pediatric Nephrology Association (IPNA), a renal pathologist, and an adult nephrologist have now developed comprehensive clinical practice recommendations on the diagnosis and management of SRNS in children. The team performed a systematic literature review on 9 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions, formulated recommendations and formally graded them at a consensus meeting, with input from patient representatives and a dietician acting as external advisors and a voting panel of pediatric nephrologists. Research recommendations are also given. 続きを見る
2.

電子ブック

EB
D. Peter Snustad, Michael J. Simmons
出版情報: Hoboken, N.J. : John Wiley & Sons, c2016
オンライン: https://elib.maruzen.co.jp/elib/html/BookDetail/Id/3000065237
3.

論文(リポジトリ)

論文(リポジトリ)
Yamaguchi, Tetsutaro ; Kawaguchi, Akira ; Kim, Yong-Il ; Haga, Shugo ; Katayama, Koshu ; Ishida, Hajime ; Park, Soo-Byung ; Maki, Koutaro ; Kimura, Ryosuke
出版情報: The Korean Journal of Orthodontics.  44  pp.96-102,  2014.  The Korean Association of Orthodontists
URL: http://hdl.handle.net/20.500.12000/47018
概要: Objective: A recent study suggested that rs6504340, a polymorphism within the homeobox B (HOXB) gene cluster, is associated with the susceptibility for malocclusions in Europeans. The resulting malocclusions require orthodontic treatment. The aim of this study was to investigate the association of rs6504340 and other dentition-implicated polymorphisms with dental and occlusal traits in Korean and Japanese populations. Methods: The study participants included 223 unrelated Koreans from the Busan area and 256 unrelated Japanese individuals from the Tokyo metropolitan area. DNA samples were extracted from saliva specimens. Genotyping for rs6504340 and four single nucleotide polymorphisms (SNPs) that have been shown to be associated with the timing of first tooth eruption and the number of teeth at 1 year of age (rs10506525, rs1956529, rs9674544, and rs8079702) was performed using TaqMan assays. The Index of Orthodontic Treatment Need (IOTN), overjet, overbite, arch length discrepancy, crown sizes, and length and width of the dental arches were measured. Spearman’s correlation coefficients were calculated to evaluate relationships between rs6504340 and these dental/occlusal traits. Results: We evaluated the aesthetic components and dental health components of the IOTN in the Korean and Japanese populations and found that neither rs6504340 nor the other four SNPs showed any association with dental and occlusal traits in these East Asian populations. Conclusions: These negative results suggest that further research is needed to identify the genetic determinants of malocclusions in order to reach a consensus. 続きを見る
4.

図書

図書
Jocelyn E. Krebs, Elliott S. Goldstein, Stephen T. Kilpatrick
出版情報: Burlington, Mass. : Jones & Bartlett Publishers, c2013
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5.

図書

図書
Benjamin A. Pierce
出版情報: Basingstoke : W. H. Freeman, c2012
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6.

図書

図書
Anthony J.F. Griffiths ... [et al.]
出版情報: New York : W.H. Freeman , Basingstoke : Palgrave, c2012
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7.

図書

図書
Jocelyn E. Krebs, Elliott S. Goldstein, Stephen T. Kilpatrick
出版情報: Sudbury, Mass. : Jones and Bartlett, c2011
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8.

図書

図書
Benjamin Lewin
出版情報: Sudbury, Mass. : Jones and Bartlett Publishers, c2008
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9.

図書

図書
Anthony J.F. Griffiths ... [et al.]
出版情報: New York : W.H. Freeman, c2008
所蔵情報: loading…
10.

図書

図書
Daniel L. Hartl, Elizabeth W. Jones
出版情報: Boston : Jones and Bartlett Publishers, c2006
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目次情報: 続きを見る
The genetic code of genes and genomes
Transmission genetics: heritage from Mendel
The chromosomal basis of heredity
Gene linkage and genetic mapping
Human chromosomes and chromosome behavior
DNA structure, replication, and manipulation
The genetics of bacteria and their viruses
The molecular genetics of gene expression
Molecular mechanisms of gene regulation
Genomics, proteomics, and genetic engineering
The genetic control of development
Molecular mechanisms of mutation and DNA repair
Molecular genetics of the cell cycle and cancer
Molecular evolution and population genetics
The genetic basis of complex inheritance
The genetic code of genes and genomes
Transmission genetics: heritage from Mendel
The chromosomal basis of heredity