Found: 16
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High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1046, doi. 10.1002/pd.2829
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- Publication type:
- Article
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1308, doi. 10.1038/ejhg.2012.90
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- Publication type:
- Article
Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use.
- Published in:
- Science Signaling, 2016, v. 9, n. 409, p. 1, doi. 10.1126/scisignal.aab2191
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- Article
Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells.
- Published in:
- Photochemistry & Photobiology, 2011, v. 87, n. 3, p. 729, doi. 10.1111/j.1751-1097.2011.00909.x
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- Publication type:
- Article
XL-DNase-seq: improved footprinting of dynamic transcription factors.
- Published in:
- Epigenetics & Chromatin, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13072-019-0277-6
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- Publication type:
- Article
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 167, doi. 10.1002/humu.21166
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- Publication type:
- Article
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 ( XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1194, doi. 10.1002/humu.20768
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- Publication type:
- Article
Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392
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- Publication type:
- Article
Activation of ATM depends on chromatin interactions occurring before induction of DNA damage.
- Published in:
- 2009
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- Publication type:
- Letter
Pseudomonas aeruginosa Exotoxin A Reduces Chemoresistance of Oral Squamous Carcinoma Cell via Inhibition of Heat Shock Proteins 70 (HSP70).
- Published in:
- Yonsei Medical Journal, 2010, v. 51, n. 5, p. 708, doi. 10.3349/ymj.2010.51.5.708
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- Publication type:
- Article
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
- Published in:
- Experimental Dermatology, 2009, v. 18, n. 1, p. 64, doi. 10.1111/j.1600-0625.2008.00763.x
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- Publication type:
- Article
Assaying Homodimers of NF-κB in Live Single Cells.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02609
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- Publication type:
- Article
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
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- Carcinogenesis, 2006, v. 27, n. 1, p. 84
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- Publication type:
- Article
Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene.
- Published in:
- 2011
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- Publication type:
- Letter
Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 8, p. 2055, doi. 10.1038/jid.2008.48
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- Publication type:
- Article
A Novel Complex Insertion/Deletion Mutation in the XPC DNA Repair Gene Leads to Skin Cancer in an Iraqi Family.
- Published in:
- 2006
- By:
- Publication type:
- Letter