常染色体優性視神経萎縮、常染色体優性視神経萎縮症
- 関
- dominant optic atrophy
WordNet
- exercising influence or control; "television plays a dominant role in molding public opinion"; "the dominant partner in the marriage"
- (music) the fifth note of the diatonic scale
- (of genes) producing the same phenotype whether its allele is identical or dissimilar
- a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
- undergo atrophy; "Muscles that are not used will atrophy"
- any weakening or degeneration (especially through lack of use) (同)withering
- optical properties; "the optics of a telescope"
- the branch of physics that studies the physical properties of light
- of or relating to an autosome; "autosomal gene"
PrepTutorEJDIC
- 『支配的な』,最も有力な / (位置が)群を抜いて高い,そびえ立つ / (手・目など左右のいずれかが)力のある / (遺伝で)優性の / (音階で)第5度音の,属音の / (遺伝の)優性形質 / 第5度音,属音
- (栄養不良などによる)萎縮(いしゅく) / (一般的に)衰退,退化 / 萎縮する,衰退する / …'を'萎縮させる,衰退させる
- 光学
- (・・・を)選ぶ《+『for』+『名』》;(・・・するほうを)選ぶ《+『to』 do》
UpToDate Contents
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English Journal
- The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
- Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, Paquis-Flucklinger V.SourceLBPG, CNRS UMR 6267/INSERM U998/UNS, School of Medicine, 28 av de Valombrose, 06107 Nice cedex 2, France. paquis@hermes.unice.fr.
- Brain : a journal of neurology.Brain.2012 Jan;135(Pt 1):23-34. Epub 2011 Dec 20.
- MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy, respectively. We report a large family with optic atrophy beginning in early chil
- PMID 22189565
- OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.
- Hamahata T, Fujimaki T, Fujiki K, Miyazaki A, Mizota A, Murakami A.SourceDepartment of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo 113-8431, Japan. nql45309@nifty.com
- Japanese journal of ophthalmology.Jpn J Ophthalmol.2012 Jan;56(1):91-7. Epub 2011 Nov 1.
- PURPOSE: To report three types of heterozygous mutations in the OPA1 gene in five patients from three families with autosomal dominant optic atrophy (ADOA, MIM#165500).METHODS: DNA was extracted from the leukocytes of the peripheral blood. For mtDNA, mutations were examined at positions 11778, 3460
- PMID 22042570
Japanese Journal
- OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy
- Hamahata Tetsuya,Fujimaki Takuro,Fujiki Keiko [他],MIYAZAKI Ai,MIZOTA Atsushi,MURAKAMI Akira
- Japanese journal of ophthalmology 56(1), 91-97, 2012-01-01
- NAID 10030248522
- 相原 一
- 神経眼科 = Neuro-ophthalmology Japan 21(3), 301-306, 2004-09-25
- NAID 10020468457
- Ploycystic Kidney Disease Associated with Cervical Arteriovenous Shunt and Bilateral Jugular Vein Occlusion
- Nishida Takashi,Ishihara Shoichiro,Kaji Tatsumi [他],TAJIMA Shingo,TANABE Hajime,MOTOYOSHI Kazuo,KAMAKURA Keiko
- Internal medicine 41(11), 1036-1038, 2002-11-01
- … A 59-year-old man with abnormal vascular features (intracranial aneurysm, a cervical arteriovenous shunt, bilateral internal jugular vein occlusions, and left transverse sinus hypoplasia), as well as left optic atrophy was suspected to have familial polycystic kidney disease. … The possibility of autosomal dominant polycystic kidney disease complicated by Ehlers-Danlos syndrome type IV due to the coexistence of vasculopathy and polycystic kidneys was considered. …
- NAID 130000767552
Related Links
- EyeWiki, the Eye Encyclopedia written by Eye Physicians & Surgeons. ... Disease Entity [edit | edit source] Autosomal dominant optic atrophy (ADOA) is believed to be the most common hereditary optic neuropathy with an ...
- 1. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Dominant optic atrophy. Lenaers G(1), Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Author ...
Related Pictures
★リンクテーブル★
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優性視神経萎縮症 優性視神経萎縮
- ミトコンドリア異常による視神経細胞死を来す遺伝性疾患
- 関
- autosomal dominant optic atrophy
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- 英
- autosomal dominant optic atrophy
- 関
- 優性視神経萎縮症、常染色体優性視神経萎縮
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- 英
- autosomal dominant optic atrophy
- 関
- 常染色体優性視神経萎縮症
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- 優性の、優位な、顕性の、優占の、支配的な、ドミナントな
- 関
- dominance、dominantly、manifest、overt、predominance、predominant、predominantly、predominately、prevailing、superior、superiorly
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- 関
- choice、choose、elect、elective、option、optional、prefer、select、selection、selective
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- 関
- autosomally、autosome
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- 関
- ocular、vision、visual
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- 関
- optical