WordNet
- an impairment of health or a condition of abnormal functioning
- exhibiting variation and change; "letters variant in size"
- differing from a norm or standard; "a variant spelling"
- the 1st letter of the Roman alphabet (同)a
- the blood group whose red cells carry the A antigen (同)type_A, group A
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- the 20th letter of the Roman alphabet (同)t
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- (同種のものと)異なった,別の / 異形;(同じ単語の)異なったつづり(発音など)
- answer / ampere
- 病気にかかった / 病的な,不健全な(morbid)
- tritiumの化学記号
UpToDate Contents
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- 1. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population
- 2. 遺伝学用語集 glossary of genetic terms
- 3. アスパルトアシラーゼ欠乏症（カナバン病） aspartoacylase deficiency canavan disease
- 4. 家族性筋萎縮性側索硬化症 familial amyotrophic lateral sclerosis
- 5. 遺伝性運動失調の概要 overview of the hereditary ataxias
English Journal
- Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
- Sobek AK1, Evers C, Dekomien G.
- Molecular and cellular probes.Mol Cell Probes.2013 Feb;27(1):32-7. doi: 10.1016/j.mcp.2012.08.007. Epub 2012 Aug 27.
- Multiplex ligation dependent probe amplification (MLPA) assays were designed for the genes HEXB (OMIM: 606873), GM2A (OMIM: 613109) and SMARCAL1 (OMIM: 606622) of humans. Two sets of synthetic MLPA probes for these coding exons were tested. Changes in copy numbers were detected as well as single nuc
- PMID 23010210
- GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
- Sanders DN1, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML, Platt SR, O'Brien DP.
- Molecular genetics and metabolism.Mol Genet Metab.2013 Jan;108(1):70-5. doi: 10.1016/j.ymgme.2012.11.008. Epub 2012 Nov 27.
- GM2 gangliosidosis is a fatal lysosomal storage disease caused by a deficiency of β-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a β subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two β
- PMID 23266199
- In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.
- Sinici I1, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL, Mahuran DJ.
- PloS one.PLoS One.2013;8(3):e57908. doi: 10.1371/journal.pone.0057908. Epub 2013 Mar 4.
- The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.52 (encoded by the HEXA and HEXB genes, respe
- PMID 23483939
Related Links
- Tay-Sachs disease, AB variant symptoms, causes, diagnosis, and treatment information for Tay-Sachs disease, AB variant (GM2-gangliosidosis, AB variant) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...
- FAQ • Tay-Sachs Disease, Ab Variant. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is ...
Related Pictures
★リンクテーブル★
| リンク元 | 「AB型Tay-Sachs病」「AB型テイ・サックス病」 |
| 関連記事 | 「disease」「variant」「T」「A」「AB」 |
「AB型Tay-Sachs病」
「AB型テイ・サックス病」
「disease」
- n.
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 注意
「variant」
- 関
- atypical、atypism、differ、different、disparate、dissimilar、distinct、meta、mutant、mutate、mutation、off-type、transmutation、variation、variational、variety、vary
「T」
「A」
「AB」