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trichothiodystrophy造句

"trichothiodystrophy"是什么意思   

例句與造句

  1. Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy.
  2. Review of literature reveals extensive associated findings in trichothiodystrophy.
  3. XPD helicase mutations leading to trichothiodystrophy are found throughout the protein in various locations involved in protein-protein interactions.
  4. Biochemical analysis may reveal sulfur-deficient brittle hair ( trichothiodystrophy; note that disulfide bonds determine hair waviness ).
  5. For example, defects in nucleotide excision repair pathways are associated with premature aging phenotypes in diseases such as Xeroderma pigmentosum and Trichothiodystrophy.
  6. It's difficult to find trichothiodystrophy in a sentence. 用trichothiodystrophy造句挺難的
  7. These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.
  8. Defects in this gene can result in three different disorders : the cancer-prone syndrome xeroderma pigmentosum complementation group D, photosensitive trichothiodystrophy, and Cockayne syndrome.
  9. In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes'kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.
  10. Five of them ( xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down's syndrome, and triple-A syndrome ) have a defect in the DNA nucleotide excision repair pathway.
  11. Based on her novel clinical observations in trichothiodystrophy ( TTD ) families, Roxana developed the hypothesis that defects in the nucleotide excision repair and transcription genes have adverse effects on human fetal and placental development.
  12. The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy.
  13. A mutation in the XPD helicase that helps form this complex and contributes to its function causes the sensitivity to sunlight seen in all three diseases, as well as the increased risk of cancer seen in XP and premature aging seen in trichothiodystrophy and Cockayne syndrome.
  14. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum ( XP ) A-G and V, Cockayne syndrome ( CS ) A and B, and trichothiodystrophy ( TTD ) group A, etc . This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.

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