point mutation

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/03/18 04:18:24」(JST)

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英文文献

  • Effects of the jimpy mutation on mouse retinal structure and function.
  • Hovhannisyan A1,2, Benkner B1, Biesemeier A3, Schraermeyer U3, Kukley M2, Münch TA1.
  • The Journal of comparative neurology.J Comp Neurol.2015 Dec 15;523(18):2788-806. doi: 10.1002/cne.23818. Epub 2015 Jun 18.
  • The Jimpy mutant mouse has a point mutation in the proteolipid protein gene (plp1). The resulting misfolding of the protein leads to oligodendrocyte death, myelin destruction, and failure to produce adequately myelinated axons in the central nervous system (CNS). It is not known how the absence of n
  • PMID 26011242
  • Genetic diversity, paraphyly and incomplete lineage sorting of mtDNA, ITS2 and microsatellite flanking region in closely related Heliopora species (Octocorallia).
  • Yasuda N1, Taquet C2, Nagai S3, Fortes M4, Fan TY5, Harii S6, Yoshida T7, Sito Y7, Nadaoka K8.
  • Molecular phylogenetics and evolution.Mol Phylogenet Evol.2015 Dec;93:161-71. doi: 10.1016/j.ympev.2015.07.009. Epub 2015 Jul 29.
  • Examining genetic diversity and lineage sorting of different genes in closely related species provide useful information for phylogenetic analyses and ultimately for understanding the origins of biodiversity. In this study, we examined inter- and intraspecific genetic variation in internal transcrib
  • PMID 26231382
  • Purine biosynthetic enzyme ATase2 is involved in the regulation of early chloroplast development and chloroplast gene expression in Arabidopsis.
  • Yang Z1, Shang Z2,3, Wang L2,3, Lu Q2, Wen X2, Chi W2, Zhang L2, Lu C4.
  • Photosynthesis research.Photosynth Res.2015 Dec;126(2-3):285-300. doi: 10.1007/s11120-015-0131-z. Epub 2015 Apr 3.
  • To investigate the molecular mechanism of chloroplast biogenesis and development, we characterized an Arabidopsis mutant (dg169, delayed greening 169) which showed growth retardation and delayed greening phenotype in leaves. Newly emerged chlorotic leaves recovered gradually with leaf development in
  • PMID 25837856

和文文献

  • A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia
  • , , , , , ,
  • Endocrine Journal 62(1), 101-106, 2015
  • … We describe a rare case of CAH with a rare CYP21A2 mutation. … While the IVS 2-13 A/C>G mutation is common in the classical form of CAH, p.E431K is a rare point mutation. … The mutation might interfere with heme binding, leading to deactivation of CYP21A2. …
  • NAID 130004770462
  • CRISPR/Casシステムを用いたマウスゲノム編集 (特集 明日の診療に役立つ細胞分子生物学)
  • 増子 大輔,伊川 正人
  • 日本呼吸器学会誌 = Annals of the Japanese Respiratory Society 3(5), 656-664, 2014-09-10
  • NAID 40020210472
  • Co-occurrence of Point Mutations in the Voltage-Gated Sodium Channel of Pyrethroid-Resistant Aedes aegypti Populations in Myanmar
  • Kawada Hitoshi,Oo Sai Zaw Min,Thaung Sein,Kawashima Emiko,Maung Yan Naung Maung,Thu Hlaing Myat,Thant Kyaw Zin,Minakawa Noboru
  • PLoS Neglected Tropical Diseases 8(7), e3032, 2014-07-31
  • … however, point mutations in the para gene of Aedes aegypti populations in Myanmar have not been fully characterized. … F1534C mutations were also widely distributed, but with a lower frequency than the V1016G mutation (21.2%). …
  • NAID 120005477037

関連リンク

このような変異の結果、表現型に変異が生じた細胞または個体を突然変異体( ミュータント, mutant)と呼び、変異を起こす物理的・化学的な ... 英語やドイツ語では mutationと呼び、この語は「変化」を意味するラテン語に由来する。 ... 点突然変異(Point mutation) ...

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★リンクテーブル★
先読みneurofibromatosis」「achondrodysplasia」「Marfan syndrome
リンク元点変異」「ポイントミューテーション
関連記事point」「pointed」「mutation」「poi

neurofibromatosis」

  [★] 神経線維腫症 NF

WordNet   license wordnet

「autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities」
von Recklinghausen''s disease


achondrodysplasia」

  [★]


Marfan syndrome」

  [★] マルファン症候群


点変異」

  [★]

point mutation
[[]]
point mutation



ポイントミューテーション」

  [★]

point mutation
点突然変異点変異


point」

  [★]

  • vt.
  • vi.
  • 指さす、示す(at,to)
  • (ある方向に)向いている(to,toward)
  • 傾向にある(to)
  • n.
dictatedirectdotindicateindicationinstructinstructionspot

WordNet   license wordnet

「mark with diacritics; "point the letter"」

WordNet   license wordnet

「the gun muzzle''s direction; "he held me up at the point of a gun"」
gunpoint

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「the property of a shape that tapers to a sharp tip」
pointedness

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「a wall socket」
power point

WordNet   license wordnet

「an outstanding characteristic; "his acting was one of the high points of the movie"」
spot

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「a distinguishing or individuating characteristic; "he knows my bad points as well as my good points"」

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「sharp end; "he stuck the point of the knife into a tree"; "he broke the point of his pencil"」

WordNet   license wordnet

「a very small circular shape; "a row of points"; "draw lines between the dots"」
dot

WordNet   license wordnet

「an instant of time; "at that point I had to leave"」
point in time

WordNet   license wordnet

「repair the joints of bricks; "point a chimney"」
repoint

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「a V shape; "the cannibal''s teeth were filed to sharp points"」
tip, peak

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「a linear unit used to measure the size of type; approximately 1/72 inch」

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「a style in speech or writing that arrests attention and has a penetrating or convincing quality or effect」

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「one percent of the total principal of a loan; it is paid at the time the loan is made and is independent of the interest on the loan」

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「the unit of counting in scoring a game or contest; "he scored 20 points in the first half"; "a touchdown counts 6 points"」

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「a V-shaped mark at one end of an arrow pointer; "the point of the arrow was due north"」
head

WordNet   license wordnet

「a brief version of the essential meaning of something; "get to the point"; "he missed the point of the joke"; "life has lost its point"」

WordNet   license wordnet

「a geometric element that has position but no extension; "a point is defined by its coordinates"」

WordNet   license wordnet

「a promontory extending out into a large body of water; "they sailed south around the point"」

WordNet   license wordnet

「the object of an activity; "what is the point of discussing it?"」

WordNet   license wordnet

「the precise location of something; a spatially limited location; "she walked to a point where she could survey the whole street"」

PrepTutorEJDIC   license prepejdic

「〈C〉(針・鉛筆・剣などの)『とがった先』,(…の)先端《+『of』+『名』》 / 〈C〉岬(みさき) / 〈C〉(小数点・句読点などの)点 / 〈C〉(図形上の)点 / 〈C〉(ある特定の)『地点』(spot),場所(place) / 〈C〉(計器の目盛りなどの)『点』,『度』 / 〈C〉時点,瞬間 / 〈C〉《単数形で》(物語・議論などの)『要点』,核心《+『of』(『in』)+『名』》 / 〈U〉(…の)『目的』,『意義』,ねらっている点《+『of』(『in』)+『名』(do『ing』)》 / 〈C〉(全体の中の)個々の項目,細目(item),細部(detail) / 〈C〉特徴(characteristic),特質(trait) / 〈C〉(競技・学校の成績などの)得点 / 〈C〉ポイント(活字の大きさの単位;約1/72インチの大きさ) / (…に)〈銃・指など〉‘を'『向ける』《+『名』+『at』(『to, toward』)+『名』》 / …‘に'『指し示す』《point+名+to+名…に…をさし示す》 / …‘の'先をとがらせる,‘に'先を付ける / …‘に'点を打つ;…‘に'小数点を付ける;…‘に'句読点を付ける / 〈猟犬が〉〈獲物〉‘を'指し示す / (…を)(指などで)『示す』,指し示す《+『at』(『to, toward』)+『名』(do『ing』)》 / 〈猟犬が〉獲物の位置を示す」

WordNet   license wordnet

「be positionable in a specified manner; "The gun points with ease"」

WordNet   license wordnet

「indicate the presence of (game) by standing and pointing with the muzzle; "the dog pointed the dead duck"」

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「mark (a psalm text) to indicate the points at which the music changes」

WordNet   license wordnet

「mark (Hebrew words) with diacritics」


pointed」

  [★]

WordNet   license wordnet

「having a point」

PrepTutorEJDIC   license prepejdic

「『先のとがった』,鋭い / (皮肉など)痛烈な,しんらつな / (ある目標に)向けられた,(はっきりと特定の人に)向けられた,当てこすりの」

WordNet   license wordnet

「direct and obvious in meaning or reference; often unpleasant; "a pointed critique"; "a pointed allusion to what was going on"; "another pointed look in their direction"」


mutation」

  [★] 突然変異

WordNet   license wordnet

「(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism」
genetic mutation, chromosomal mutation

WordNet   license wordnet

「a change or alteration in form or qualities」

PrepTutorEJDIC   license prepejdic

「変化,俸転 / (生物の)突然変異;その変種」


poi」

  [★]

WordNet   license wordnet

「Hawaiian dish of taro root pounded to a paste and often allowed to ferment」




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