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1. 遺伝学用語集 glossary of genetic terms
2. 成人における多嚢胞性卵巣症候群の臨床症状 clinical manifestations of polycystic ovary syndrome in adults
3. 思春期における多嚢胞性卵巣症候群の病態生理および病因 pathophysiology and etiology of polycystic ovary syndrome in adolescents
4. 甲状腺ホルモンに対する感受性の傷害 impaired sensitivity to thyroid hormone

English Journal

Qu LJ, Qin G.SourceState Key Laboratory of Protein and Plant Gene Research, Center for Life Sciences, College of Life Sciences, Peking University, Beijing, People's Republic of China.
Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2014;1062:241-58. doi: 10.1007/978-1-62703-580-4_13.
Transfer DNA (T-DNA) insertion mutants are often used in forward and reverse genetics to reveal the molecular mechanisms of a particular biological process in plants. To generate T-DNA insertion mutants, T-DNA must be inserted randomly in the genome through transformation mediated by Agrobacterium t
PMID 24057370

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Das K J, Ingles J, Bagnall RD, Semsarian C.Source1] Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia [2] Sydney Medical School, University of Sydney, Sydney, Australia.
Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2013 Oct 10. doi: 10.1038/gim.2013.138. [Epub ahead of print]
Purpose:Major advances have been made in our understanding and clinical application of genetic testing in hypertrophic cardiomyopathy. Determining pathogenicity of a single-nucleotide variant remains a major clinical challenge. This study sought to reassess single-nucleotide variant classification i
PMID 24113344

Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E.SourceDepartment of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
American journal of human genetics.Am J Hum Genet.2013 Oct 3;93(4):752-757. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26.
The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderm
PMID 24075184

滋賀健介,水田依久子,能登祐一,中川正法,佐々木良元,山脇正永
臨床神経学 54(5), 434-439, 2014
症例は73歳の男性である．2歳頃から2週間持続する下肢脱力発作をくりかえしていたが，CK高値のため入院した．下肢近位筋の筋力低下・眼瞼ミオトニーをみとめた．針筋電図でミオトニー放電をみとめ，prolonged exercise test陽性であった．発端者で，筋特異的電位依存性ナトリウムチャネルαサブユニット遺伝子（SCN4A）のヘテロ接合変異（M1592V）をみとめた．家系解析で本変異と脱力発作 …
NAID 130004505584

Tanomura Hideki,Yamamoto Takuji,Muramatsu Youji,Ohta Takeshi,Yamada Takahisa
Journal of animal and veterinary advances 10(7), 841-846, 2011-09
… For this purpose, we performed refinement of the intramuscular fat content QTL genomic region to a ~2.3-cM region by use of informative recombinants selected from the OLETF-derived congenic strain, functional retrieval of positional candidate gene, mRNA level analysis and polymorphism search of physiologically relevant positional candidate gene, Pnlip and analysis of cosegregation of the intramuscular fat content QTL with Variable Number of Tandem Repeat (VNTR) in Pnlip by use of informative recombinants. …
NAID 120005512195

岡内宏憲,野本裕己,文田浩輔,才田一幸,西本和俊
溶接学会論文集 29(4), 326-334, 2011
… The grain boundary segregation of impurity elements such as P and S was numerically analyzed based on the non-equilibrium cosegregation theory when the welding speed and the amounts of P and S in the weld metal were varied. …
NAID 130004445695