X-linked genetic disease

出典: meddic

X連鎖遺伝病

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英文文献

  • Proteomics reveals drastic increase of extracellular matrix proteins collagen and dermatopontin in the aged mdx diaphragm model of Duchenne muscular dystrophy.
  • Carberry S, Zweyer M, Swandulla D, Ohlendieck K.SourceDepartment of Biology, National University of Ireland, Maynooth, Kildare, Republic of Ireland.
  • International journal of molecular medicine.Int J Mol Med.2012 Aug;30(2):229-34. doi: 10.3892/ijmm.2012.1006. Epub 2012 May 18.
  • Duchenne muscular dystrophy is a lethal genetic disease of childhood caused by primary abnormalities in the gene coding for the membrane cytoskeletal protein dystrophin. The mdx mouse is an established animal model of various aspects of X-linked muscular dystrophy
  • PMID 22614334
  • Activation of the stress proteome as a mechanism for small molecule therapeutics.
  • Brose RD, Shin G, McGuinness MC, Schneidereith T, Purvis S, Dong GX, Keefer J, Spencer F, Smith KD.SourceJohns Hopkins University, McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD 21205, USA.
  • Human molecular genetics.Hum Mol Genet.2012 Jul 2. [Epub ahead of print]
  • Various small molecule pharmacologic agents with different known functions produce similar outcomes in diverse Mendelian and complex disorders suggesting they may induce common cellular effects. These molecules include histone deacetylase inhibitors, 4-phenylbutyrate and trichostatin A, and two smal
  • PMID 22752410

和文文献

  • Matrix metalloproteinase-2 ablation in dystrophin-deficient mdx muscles reduces angiogenesis resulting in impaired growth of regenerated muscle fibers
  • Miyazaki Daigo,Nakamura Akinori,Fukushima Kazuhiro,Yoshida Kunihiro,Takeda Shin'ichi,Ikeda Shu-ichi
  • HUMAN MOLECULAR GENETICS 20(9), 1787-1799, 2011-00-00
  • … Matrix metalloproteases (MMPs) are a family of endopeptidases classified into subgroups based on substrate preference in normal physiological processes such as embryonic development and tissue remodeling, as well as in various disease processes via degradation of extracellular matrix components. … Among the MMPs, MMP-9 and MMP-2 have been reported to be up-regulated in skeletal muscles in the lethal X-linked muscle disorder Duchenne muscular dystrophy (DMD), which is caused by loss of dystrophin. …
  • NAID 120005248259
  • Clinical and Genetic Investigation of a Japanese Family With Cardiac Fabry Disease: Identification of a Novel α-Galactosidase A Missense Mutation (G195V) (心臓Fabry病の1家族についての臨床的並びに遺伝的研究)
  • 中川直樹,Maruyama Hiroki,Ishihara Takayuki,Seino Utako,Kawabe Jun-ichi,Takahashi Fumihiko,Kobayashi Motoi,Yamauchi Atsushi,Sasaki Yukie,Sakamoto Naka,Ota Hisanobu,Tanabe Yasuko,Takeuchi Toshiharu,Takenaka Toshihiro,Kikuchi Kenjiro,Hasebe Naoyuki
  • International Heart Journal 52(5), 308-311, 2011
  • … 雑誌掲載版J-STAGE掲載版使用https://www.jstage.jst.go.jp/browse/-char/jaFabry病はα-galactosidase A遺伝子(GLA)の変異によるX染色体関連リソゾーム貯蔵障害に基づく疾患で、特発性肥大型心筋症に似た左室肥大を伴うことがある。 …
  • NAID 130001088315
  • Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
  • MIYOSHI Yoko,SAKAI Norio,HAMADA Yusuke,TACHIBANA Makiko,HASEGAWA Yasuhiro,KIYOHARA Yuki,YAMADA Hiroyuki,MURAKAMI Mari,KONDOU Hiroki,KIMURA OHBA Shihoko,MINE Junji,SATO Tatsuharu,KAMIO Noriko,UEDA Hitoshi,SUZUKI Yasuhiro,SHIOMI Masashi,OHTA Hideaki,SHIMOZAWA Nobuyuki,OZONO Keiichi
  • Endocrine journal 57(11), 965-972, 2010-11-01
  • NAID 10029586842

関連リンク

X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated ...
In some recessive diseases, a carrier gets a mild form of the disease. For example, in X-linked recessive hemophilia, a female carrier has one bad gene on chromosome X, but the good gene on the other X chromosome produces ...

関連画像

Avoiding X-Linked Genetic DiseaseAuthor : Michael Kahn, D.D.S.linked Recessive Diseasediagram of X-linked recessive genetic Genetic Diseases, X-Linked (X-Linked List of Genetic Diseases and Disorders


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リンク元X連鎖遺伝病
関連記事link」「disease」「genetic」「diseased」「genetics

X連鎖遺伝病」

  [★]

X-linked genetic disease
伴性遺伝病伴性劣性遺伝病

X連鎖遺伝病



link」

  [★]

  • n.
  • v.
associateassociationattachbearingbindcatenatecatenationconcatenationconnectconnectioncorrelatecorrelationimplicateimplicationjoinjunctureligateligationlinkagelinkedpertinentreferencerelaterelationrelationshiprelativerelevancerelevant

WordNet   license wordnet

「the means of connection between things linked in series」
nexus

WordNet   license wordnet

「a unit of length equal to 1/100 of a chain」

WordNet   license wordnet

「an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data」
data link

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「a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction"」
linkup, tie, tie-in

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「(computing) an instruction that connects one part of a program or an element on a list to another program or list」

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「(鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》」

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「たいまつ」


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.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意
diseaseillnessdisorder


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「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

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「女性の話術芸人 =diseur」


genetic」

  [★]

  • adj.
  • 遺伝的な、遺伝学的な、遺伝子の、ジェネティックな
genegeneticallyheritableheritably


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「pertaining to or referring to origin; "genetic history reconstructs the origins of a literary work"」

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「of or relating to the science of genetics; "genetic research"」
genetical


diseased」

  [★]

WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

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「病気にかかった / 病的な,不健全な(morbid)」


genetics」

  [★] 遺伝学

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「the branch of biology that studies heredity and variation in organisms」
genetic science

PrepTutorEJDIC   license prepejdic

「遺伝学」




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