trichothiodystrophy

出典: meddic

裂毛症硫黄欠乏性毛髪発育異常症trichorrhexisTTD

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/11/10 09:24:50」(JST)

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英文文献

  • Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.
  • Rakowska A1, Górska R2, Rudnicka L3, Zadurska M4.
  • The Journal of pediatrics.J Pediatr.2015 Jul;167(1):193-5. doi: 10.1016/j.jpeds.2015.04.002. Epub 2015 Apr 30.
  • Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili to
  • PMID 25935816
  • DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders.
  • Shabbir SH1.
  • Journal of child neurology.J Child Neurol.2015 Jun 26. pii: 0883073815592221. [Epub ahead of print]
  • Nucleotide excision repair disorders display a wide range of clinical syndromes and presentations, all associated at the molecular level by dysfunction of genes participating in the nucleotide excision repair pathway. Genotype-phenotype relationships are remarkably complex and not well understood. T
  • PMID 26116382
  • Defective Hfp-dependent transcriptional repression of dMYC is fundamental to tissue overgrowth in Drosophila XPB models.
  • Lee JE1, Mitchell NC1, Zaytseva O1, Chahal A1, Mendis P1, Cartier-Michaud A2, Parsons LM1, Poortinga G3, Levens DL4, Hannan RD5, Quinn LM1.
  • Nature communications.Nat Commun.2015 Jun 15;6:7404. doi: 10.1038/ncomms8404.
  • Nucleotide excision DNA repair (NER) pathway mutations cause neurodegenerative and progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)), which are inexplicably associated with (XP) or without (CS/TTD) cancer. Moreover, cancer progression occurs in ce
  • PMID 26074141

和文文献

  • A Japanese trichothiodystrophy patient with XPD mutations
  • Usuda Touhei,Saijo Masafumi,Tanaka Kiyoji [他],SATO Nobuyuki,UCHIYAMA Makoto,KOBAYASHI Takehiro
  • Journal of human genetics 56(1), 77-79, 2011-01-01
  • NAID 10030657524
  • A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
  • DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

関連リンク

^Lambert WC, Gagna CE and Lambert MW. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome.PMID 20687499 ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 234050 ^ Baden, H. P.; Jackson, C. E.; Weiss, L ...
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is ...

関連画像

 Hair Abnormalities in TrichothiodystrophyTrichothiodystrophyTrichothiodystrophyUnfortunately we are unable to provide trichothiodystrophy - Humpath.com - Human Trichothiodystrophy Trichothiodystrophy


★リンクテーブル★
リンク元裂毛症」「TTD」「trichorrhexis」「硫黄欠乏性毛髪発育異常症

裂毛症」

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trichothiodystrophytrichorrhexisTTD
硫黄欠乏性毛髪発育異常症裂毛テイ症候群毛髪縦裂症



TTD」

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躯幹横径


trichorrhexis」

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trichothiodystrophyTTD


硫黄欠乏性毛髪発育異常症」

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trichothiodystrophy
裂毛症




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