目次
WordNet
- emit or reflect light in a flickering manner; "Does a constellation twinkle more brightly than a single star?" (同)winkle, scintillate
- a rapid change in brightness; a brief spark or flash (同)scintillation, sparkling
- an object that emits or reflects light in an intermittent flickering manner
- shining intermittently with a sparkling light; "twinkling stars"
PrepTutorEJDIC
- 『きらきら光る』 / 〈目が〉(喜びなどで)輝く《+with+名》 / 〈まぶたが〉ばちばち動く,〈踊る人の足などが〉ちらつく / (…の)『きらめき』,ちらつき《+of+名》 / (…の)輝き《+of+名》 / =twinkling
- きらきら光る / またたく間,瞬間
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/03 23:22:26」(JST)
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- 1. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
- 2. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
English Journal
- Bovine TWINKLE and mitochondrial ribosomal protein L43 genes are regulated by an evolutionary conserved bidirectional promoter.
- Meersseman C1, Léjard V2, Rebours E2, Boussaha M2, Maftah A3, Petit D3, Rocha D4.Author information 1INRA, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France; AgroParisTech, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France; INRA, UMR1061 Génétique Moléculaire Animale, F-87060 Limoges, France; Université de Limoges, UMR1061 Génétique Moléculaire Animale, F-87060 Limoges, France.2INRA, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France; AgroParisTech, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France.3INRA, UMR1061 Génétique Moléculaire Animale, F-87060 Limoges, France; Université de Limoges, UMR1061 Génétique Moléculaire Animale, F-87060 Limoges, France.4INRA, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France; AgroParisTech, UMR1313, Unité Génétique Animale et Biologie Intégrative, Domaine de Vilvert, F-78352 Jouy-en-Josas, France. Electronic address: dominique.rocha@jouy.inra.fr.AbstractTWINKLE is a mitochondrial DNA helicase playing an important role in mitochondrial DNA replication. In human, mutations in this gene cause progressive external ophtalmoplegia and mitochondrial DNA depletion syndrome-7. TWINKLE is well conserved among multicellular eukaryotes and is believed to be a key regulator of mitochondrial DNA copy number in mammals. Despite its involvement in several diseases and its important function in mitochondrial DNA metabolism, nothing is known about the regulation of the expression of TWINKLE. We have analysed the 5'-flanking genomic region of the bovine TWINKLE gene and found it was localised adjacent to the MRPL43 gene in a head-to-head orientation, suggesting that both genes are regulated by a shared bidirectional promoter. The bovine 75-bp long intergenic region shows substantial homology across different species and contains several conserved putative transcription factor binding sites. A TATA box, however, was lacking. Using a dual fluorescent reporter system and transient transfection assays, we have analysed the bovine intergenic region between TWINKLE and MRPL43. This small genomic fragment showed a bidirectional promoter activity. As the TWINKLE/MRPL43 bidirectional promoter tested was highly conserved, it is likely that the results we obtained here in cattle may be extended to the other species.
- Gene.Gene.2014 Mar 1;537(1):154-63. doi: 10.1016/j.gene.2013.11.088. Epub 2013 Dec 19.
- TWINKLE is a mitochondrial DNA helicase playing an important role in mitochondrial DNA replication. In human, mutations in this gene cause progressive external ophtalmoplegia and mitochondrial DNA depletion syndrome-7. TWINKLE is well conserved among multicellular eukaryotes and is believed to be a
- PMID 24361965
- Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
- Ji K1, Liu K, Lin P, Wen B, Luo YB, Zhao Y, Yan C.Author information 1Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China.AbstractAutosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). Twinkle is one of the nuclear genes associated with adPEO. Clinical, histochemical, and molecular genetics findings of 6 patients from two Chinese families with adPEO were reported. Two point mutations (c.1423G>C, p.A475P and c.1061G>C, p.R354P) of Twinkle gene have been found. Multiple mtDNA deletions were also detected in patient's muscle and fibroblasts. This study confirms two mutations in Chinese adPEO families, which were first reported in the Chinese population.
- Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.Neurol Sci.2014 Mar;35(3):443-8. doi: 10.1007/s10072-013-1557-8. Epub 2013 Oct 4.
- Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). Twinkle is one of the nuclear genes associated with adPEO. Clinical, histochemical, and molecular genetics findings of 6 patients from two Chinese
- PMID 24091712
- Ultrasonographic characteristics of lipiduria in clinically normal cats.
- Sislak MD1, Spaulding KA, Zoran DL, Bauer JE, Thompson JA.Author information 1Department of Large Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843.AbstractEchoes are frequently seen in the urinary bladder of cats during abdominal ultrasound. These have been attributed to hematuria, pyuria, crystalluria, and lipid. However, sonographic findings have not been previously correlated with urinalysis. We prospectively evaluated 40 clinically normal cats via ultrasound, serum chemistry, and urinalysis. Thin layer chromatography was performed on the urine to determine the amount (mg) of lipid subfractions including diacylglycerol, triglyceride, phospholipid, free fatty acid, cholesterol, and cholesterol ester. Ninety percent (36/40) of the cats in our population had sonographic echoes suspended in the urinary bladder, with most having a subjective score of mild echoes (n = 20). None of the sonographic echoes were gravity dependent or caused distal acoustic shadowing, reverberation, or twinkle artifact. Of the cats with sonographic echoes in the urine, 66% (24/36) had no significant findings on urinalysis other than the presence of lipid. The total amount of subjective sonographic echoes was not significantly related to the total amount of fat measured on thin layer chromatography or the number of lipid droplets seen on urinalysis. An increased amount of urine diacylglycerol was significantly associated with clumping of echoes (P = 0.02) and the amount of lipid droplets seen on urinalysis (P = 0.04). An association between increased amounts of urine diacylglycerol and the amount of echoes seen on ultrasound approached significance (P = 0.05). Findings from this study support previously published theories that sonographic echoes within the urinary bladder of clinically normal cats may be due to urine lipid.
- Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association.Vet Radiol Ultrasound.2014 Mar;55(2):195-201. doi: 10.1111/vru.12100. Epub 2013 Sep 17.
- Echoes are frequently seen in the urinary bladder of cats during abdominal ultrasound. These have been attributed to hematuria, pyuria, crystalluria, and lipid. However, sonographic findings have not been previously correlated with urinalysis. We prospectively evaluated 40 clinically normal cats via
- PMID 24102935
- Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
- Uusimaa J1, Evans J2, Smith C2, Butterworth A3, Craig K3, Ashley N4, Liao C4, Carver J4, Diot A4, Macleod L4, Hargreaves I5, Al-Hussaini A6, Faqeih E6, Asery A6, Al Balwi M7, Eyaid W8, Al-Sunaid A8, Kelly D9, van Mourik I9, Ball S10, Jarvis J11, Mulay A12, Hadzic N13, Samyn M13, Baker A13, Rahman S14, Stewart H15, Morris AA16, Seller A2, Fratter C2, Taylor RW3, Poulton J4.Author information 11] Nuffield Department of Obstetrics and Gynaecology, University of Oxford The Women's Centre, Oxford, UK [2] Institute of Clinical Medicine/Paediatrics, University of Oulu, Clinical Research Center, Oulu University Hospital, Oulu, Finland.2Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK.3Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.4Nuffield Department of Obstetrics and Gynaecology, University of Oxford The Women's Centre, Oxford, UK.5Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.6Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.7Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.8Department of Pediatrics, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health & Science, Riyadh, Saudi Arabia.9Paediatric Liver Unit, Birmingham Children's Hospital, Birmingham, UK.10Department of Newborn Screening and Biochemical Genetics, Birmingham Children's Hospital, Birmingham, UK.11Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK.12Maternity Services, Manor Hospital, Walsall, UK.13Paediatric Liver Centre, King's College Hospital, London, UK.14Mitochondrial Research Group, UCL Institute of Child Health, London, UK.15Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.16Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester, UK.AbstractMitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this study were to clarify further the clinical, biochemical, cellular and molecular genetic features associated with MDS due to MPV17 gene mutations. We identified 12 pathogenic mutations in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. All patients manifested liver disease. Poor feeding, hypoglycaemia, raised serum lactate, hypotonia and faltering growth were common presenting features. mtDNA depletion in liver was demonstrated in all seven cases where liver tissue was available. Mosaic mtDNA depletion was found in primary fibroblasts by PicoGreen staining. These results confirm that MPV17 mutations are an important cause of hepatocerebral mtDNA depletion syndrome, and provide the first demonstration of mosaic mtDNA depletion in human MPV17 mutant fibroblast cultures. We found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mtDNA depletion in fibroblasts.
- European journal of human genetics : EJHG.Eur J Hum Genet.2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29.
- Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK
- PMID 23714749
Japanese Journal
- 植物のTWINKLE は葉緑体DNA 複製に関わるDNA プライマーゼか? : 細胞内局在の検討
- 京都産業大学総合学術研究所所報 9, 87-94, 2014-07
- NAID 110009808898
- 「キラキラ星」のメロディによる中国語の声調指導研究
- 長崎ウエスレヤン大学現代社会学部紀要 12(1), 67-69, 2014-03-31
- NAID 110009814734
- 東京女子医科大学学術リポジトリTwinkleの構築と運用 : 公開4年を迎えて (特集 第19回医学図書館研究会・継続教育コース)
- 医学図書館 60(3), 257-261, 2013-09
- NAID 120005354491
- 植物のTWINKLE は葉緑体DNA 複製に関わるDNA プライマーゼか?:アミノ酸配列の比較による検討
- 京都産業大学総合学術研究所所報 8, 49-55, 2013-07
- NAID 110009623842
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