Camurati-Engelmann syndrome

出典: meddic

カムラチ・エンゲルマン症候群Camurati-Engelmann症候群

Engelmann disease、Engelmann's disease、progressive diaphyseal dysplasia

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/11/17 13:42:49」(JST)

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英文文献

  • Latent TGF-β structure and activation.
  • Shi M, Zhu J, Wang R, Chen X, Mi L, Walz T, Springer TA.SourceImmune Disease Institute, Children's Hospital Boston and Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Nature.Nature.2011 Jun 15;474(7351):343-9. doi: 10.1038/nature10152.
  • Transforming growth factor (TGF)-β is stored in the extracellular matrix as a latent complex with its prodomain. Activation of TGF-β1 requires the binding of α(v) integrin to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the extracellular matrix by latent
  • PMID 21677751
  • Camurati-engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
  • Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S.SourceCenter for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA. mwhyte@shrinenet.org
  • Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2011 May;26(5):920-33. doi: 10.1002/jbmr.283.
  • We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness sinc
  • PMID 21541994

和文文献

  • TGFシグナル異常による骨・軟骨疾患--単一遺伝子病からありふれた疾患まで (第1土曜特集 TFG-βシグナル研究--メカニズムの解明から新たな治療へ) -- (疾病とTGF-βシグナル伝達異常)
  • Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome)

関連リンク

John Belluso, writer for the CBS television show Ghost Whisperer, was bound to a wheel chair since the age of 13 because of the Camurati–Engelmann ...
How do people inherit Camurati-Engelmann disease? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person ...

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★リンクテーブル★
先読みEngelmann disease
リンク元カムラチ・エンゲルマン症候群」「Camurati-Engelmann症候群
関連記事syndrome

Engelmann disease」

  [★] エンゲルマン病カムラチ・エンゲルマン病


カムラチ・エンゲルマン症候群」

  [★]

Camurati-Engelmann syndrome
進行性骨幹異形成症エンゲルマン病Camurati-Engelmann症候群


Camurati-Engelmann症候群」

  [★]

Camurati-Engelmann syndrome
カムラチ・エンゲルマン症候群


syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」




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