出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/09 21:39:14」(JST)[Wiki en表示]
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- 1. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
- 2. 小児における常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease in children
- 3. メンデル遺伝の概要 overview of mendelian inheritance
- 4. 無ガンマグロブリン血症 agammaglobulinemia
- 5. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
- Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.
- Chen WJ, He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N.SourceDepartment of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, China; Center of Neuroscience, Fujian Medical University, China.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2012 Nov 20;413(23-24):1855-60. Epub 2012 Aug 4.
- BACKGROUND: As a lethal autosomal recessive hereditary disorder, childhood spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene. Most of the patients died at early stage or were seriously disabled, which accounts partly for the scarcity of two continuous ge
- PMID 22884440
- The association between two polymorphisms in the TS gene and risk of cancer: A systematic review and pooled analysis.
- Zhou JY, Shi R, Yu HL, Zeng Y, Zheng WL, Ma WL.SourceInstitute of Genetic Engineering, Southern Medical University, Guangzhou, People's Republic of China.
- International journal of cancer. Journal international du cancer.Int J Cancer.2012 Nov 1;131(9):2103-16. doi: 10.1002/ijc.27465. Epub 2012 Mar 15.
- Thymidylate synthase (TS) is an important enzyme involved in folate metabolism and catalyzes methylation of deoxyuridine monophosphate to deoxythymidine monophosphate, which is essential for DNA replication. Thymidylate synthase enhancer region (TSER) and TS1494del6, two functionally important and e
- PMID 22307944
- Use of viral vectors to create animal models for Parkinson's disease.
- Löw K, Aebischer P.AbstractParkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra. While sporadic in the majority of cases, PD-linked dominant mutations in the α-synuclein and LRRK-2 genes, and recessive mutations in the parkin, DJ-1 and PINK-1 genes have been identified in PD families in recent years. In this review we describe viral animal models for PD, i.e. models that are based on PD-associated mutations, and have been generated by viral delivery of the respective disease genes to the substantia nigra of rodents and non-human primates. To date, viral PD models comprise α-synuclein and LRRK-2-based overexpression models, as well as models that mimic parkin loss of function by overexpression of the parkin substrates Pael-R, CDCrel-1, p38/JTV or synphilin-1. These viral models provide valuable insights into Parkinson disease mechanisms, help to identify therapeutic targets and may contribute to the development of therapeutic approaches.
- Neurobiology of disease.Neurobiol Dis.2012 Nov;48(2):189-201. Epub 2011 Dec 29.
- Parkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra. While sporadic in the majority of cases, PD-linked dominant mutations in the α-synuclein and LRRK-2 genes, and recessive mutations in the parkin, DJ-1 and PINK-
- PMID 22227451
- WWOX and severe autosomal recessive epileptic encephalopathy : first case in the prenatal period
- Valduga Mylene,Philippe Christophe,Lambert Laetitia [他]
- Journal of human genetics 60(5), 267-271, 2015-05
- NAID 40020462589
- 強いリセッシブを用いたCANの電気的データ改ざん (情報通信システムセキュリティ)
- 菅原 健,佐伯 稔,三澤 学
- 電子情報通信学会技術研究報告 = IEICE technical report : 信学技報 114(489), 67-72, 2015-03-03
- NAID 40020430248
- Oseltamivir Expands Quasispecies of Influenza Virus through Cell-to-cell Transmission
- Mori Kotaro,Murano Kensaku,Ohniwa Ryosuke L.,Kawaguchi Atsushi,Nagata Kyosuke
- Scientific reports 5, 9163, 2015-03
- … Co-infection with viral variants may rescue recessive mutations with each other. …
- NAID 120005604001
- Advances in Gene/Cell Therapy in Epidermolysis Bullosa
- , , , ,
- The Keio Journal of Medicine advpub(0), 2015
- … Further, clinical trials for a gene therapy treatment of recessive dystrophic EB are currently under way in the United States and in Europe. …
- NAID 130005074132
- "Language is simply alive, like an organism. We all tell each other this, in fact, when we speak of living languages, and I think we mean something more than an abstract metaphor. We mean alive. Words are the cells of language ...
- Allosomal recessive gene Allosomal recessive is a mode of inheritance of genetic traits located on the allosomes (the sex determining chromosomes). Examples include the gene for hemophilia which is carried on the X chromosome.
- recessiveとは。意味や和訳。[形]1 後退する；後退傾向の；逆行[退行]性の.2 《遺伝学》劣性のrecessive gene劣性遺伝子. [名]《遺伝学》劣性形質.re・ces・sive・ly[副]re・ces・sive・ness[名] - goo辞書は国語、英和、和英 ...
|拡張検索||「autosomal recessive juvenile parkinsonism」「autosomal recessive parkinsonism」「autosomal recessive polycystic kidney disease」|
- autosomal dominant parkinsonism、autosomal recessive juvenile Parkinson disease、autosomal recessive parkinsonism、experimental parkinsonism、juvenile Parkinson disease、juvenile parkinsonism、MPTP-induced experimental parkinsonism、parkinsonian disorder、parkinsonian syndrome、parkinsonism
- autosomal dominant parkinsonism、autosomal recessive juvenile Parkinson disease、autosomal recessive juvenile parkinsonism、experimental parkinsonism、juvenile Parkinson disease、juvenile parkinsonism、MPTP-induced experimental parkinsonism、parkinsonian disorder、parkinsonian syndrome、parkinsonism