Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta
about
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethalityDNA damage and its cellular response in mother and fetus exposed to hyperglycemic environmentNucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.Whole transcriptome sequencing identifies tumor-specific mutations in human oral squamous cell carcinoma.TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumIntegrative transcriptome analysis reveals dysregulation of canonical cancer molecular pathways in placenta leading to preeclampsiaMutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
P2860
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P2860
Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
Phenotype-specific adverse eff ...... mediated functions in placenta
@ast
Phenotype-specific adverse eff ...... mediated functions in placenta
@en
type
label
Phenotype-specific adverse eff ...... mediated functions in placenta
@ast
Phenotype-specific adverse eff ...... mediated functions in placenta
@en
prefLabel
Phenotype-specific adverse eff ...... mediated functions in placenta
@ast
Phenotype-specific adverse eff ...... mediated functions in placenta
@en
P2093
P2860
P356
P1476
Phenotype-specific adverse eff ...... mediated functions in placenta
@en
P2093
Amiran Dzutsev
Anil Kumar
Caroline Signore
James L Mills
Roxana Moslehi
Xavier Ambroggio
P2860
P2888
P304
P356
10.1038/EJHG.2011.249
P577
2012-01-11T00:00:00Z