| URN | urn:agi-Regulation:inout-urn:agi-llid:2071:out-urn:agi-meshdis:Xeroderma%20Pigmentosum::unknown |
|---|---|
| References | 12 |
| Connectivity | 2 |
| Effect | unknown |
| Original # of References | 12 |
| TextRef | info:pmid/18579452#abs:2 |
|---|---|
| PubYear | 2008 |
| MedlineTA | DNA Repair (Amst) |
| MedLine Reference | 18579452:1 |
| Sentence | Different mutations in XPB and XPD can instead cause xeroderma pigmentosum . |
| TextMods | 75: '(XP)' -> '' |
| TextRef | info:pmid/11701636#abs:5 |
|---|---|
| PubYear | 2000 |
| MedlineTA | Annu Rev Genomics Hum Genet |
| MedLine Reference | 11701636:4 |
| Sentence | Mutations in XPB and XPD can result in xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy. |
| TextRef | info:pmid/17466626#abs:2 |
|---|---|
| PubYear | 2007 |
| MedlineTA | Mol Cell |
| MedLine Reference | 17466626:1 |
| Sentence | The role of XPB in nucleotide excision repair and the molecular mechanisms resulting in xeroderma pigmentosum are poorly understood. |
| TextMods | 19: 'NER ' -> 'nucleotide excision repair ' 88: 'XP ' -> 'xeroderma pigmentosum ' |
| TextRef | info:pmid/9425594#abs:3 |
|---|---|
| PubYear | 1997 |
| MedlineTA | Curr Opin Pediatr |
| MedLine Reference | 9425594:2 |
| Sentence | Defects in the XPB, XPD, and XPG genes can result in three different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on the specific mutation involved. |
| TextRef | info:pmid/17156731#abs:7 |
|---|---|
| PubYear | 2006 |
| MedlineTA | Med Sci (Paris) |
| MedLine Reference | 17156731:6 |
| Sentence | Mutations in XPD and XPB genes can result in xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, three genetic disorders with different clinical features but with association of transcription and NER defects. |
| TextRef | info:pmid/16167068#abs:1 |
|---|---|
| PubYear | 2006 |
| MedlineTA | Cell Death Differ |
| MedLine Reference | 16167068:0 |
| Sentence | The severe xeroderma pigmentosum/Cockayne syndrome syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair . |
| TextMods | 51: '(XP/CS) ' -> '' 210: '(NER)' -> '' |
| TextRef | info:pmid/20208140#abs:2 |
|---|---|
| PubYear | 2010 |
| MedlineTA | Cell Oncol |
| MedLine Reference | 20208140:1 |
| Sentence | Mutations of the two largest subunits, p89 (XPB) and p80 (XPD), cause the hereditary cancer-prone syndrome xeroderma pigmentosum.Methods: The transcription factor II H subunit p89 was monitored during interphase and cell division by immunofluorescence staining, GFP-fusion constructs including deletions, live cell imaging and immuno-precipitations.Results: Here we demonstrate that during cell division, from prophase until telophase, the transcription factor II H core subunit p89, but not other subunits of transcription factor II H, associates with the centrosomes and the adjacent parts of the mitotic spindle. |
| TextMods | 142: 'TFIIH ' -> 'transcription factor II H ' 440: 'TFIIH ' -> 'transcription factor II H ' 510: 'TFIIH' -> 'transcription factor II H' |
| TextRef | info:pmid/18285820#body:179 |
|---|---|
| PubYear | 2008 |
| MedlineTA | EMBO J |
| Organ | Eye |
| MedLine Reference | 18285820:1178 |
| Sentence | xeroderma pigmentosum is caused by mutations of the nucleotide excision repair gene XPA, XPB (ERCC3), XPC, XPD (ERCC2), XPE (DDB2), or XPF; XPG. |
| TextMods | 0: 'XP ' -> 'xeroderma pigmentosum ' 52: 'NER ' -> 'nucleotide excision repair ' |
| TextRef | info:pmid/10713167#body:352 |
|---|---|
| PubYear | 2000 |
| MedlineTA | Mol Cell Biol |
| MedLine Reference | 10713167:1351 |
| Sentence | It has not escaped our attention that the human diseases xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy are caused by mutations in the XPD (RAD3) and XPB (SSL2) genes. |
| TextMods | 57: 'XP' -> 'xeroderma pigmentosum' 105: 'TTD ' -> 'trichothiodystrophy ' |
| TextRef | info:pmid/20221251#body:288 |
|---|---|
| PubYear | 2010 |
| MedlineTA | PLoS Genet |
| Organ | Skin |
| MedLine Reference | 20221251:1287 |
| Sentence | Similarly, mutations in XPB can also cause Xeroderma pigmentosum, trichothiodystrophy and a combined Xeroderma pigmentosum-Cockayne Syndrome [37] and mutations in XPG can lead to Xeroderma pigmentosum or Xeroderma pigmentosum-Cockayne Syndrome [38]. |
| TextMods | 43: 'XP' -> 'Xeroderma pigmentosum' 66: 'TTD ' -> 'trichothiodystrophy ' 101: 'XP' -> 'Xeroderma pigmentosum' 123: 'CS ' -> 'Cockayne Syndrome ' 179: 'XP ' -> 'Xeroderma pigmentosum ' 204: 'XP' -> 'Xeroderma pigmentosum' 226: 'CS ' -> 'Cockayne Syndrome ' |
| TextRef | info:pmid/19934020#body:46 |
|---|---|
| PubYear | 2009 |
| MedlineTA | J Exp Med |
| Organ | Skin |
| MedLine Reference | 19934020:1045 |
| Sentence | xeroderma pigmentosum may also be caused by defects in other genes in the nucleotide excision repair pathway (XPA, XPB/ERCC3, XPC, XPE/DDB2, XPF/ERCC4, or XPG/ERCC5) or in the polymerase eta gene (xeroderma pigmentosum variant; Masutani et al., 1999; Lehmann, 2003; Kraemer et al., 2007). |
| TextMods | 0: 'XP ' -> 'xeroderma pigmentosum ' 74: 'NER ' -> 'nucleotide excision repair ' 197: 'XP ' -> 'xeroderma pigmentosum ' |
| TextRef | info:pmid/18378697#body:93 |
|---|---|
| PubYear | 2008 |
| MedlineTA | Mol Cell Biol |
| MedLine Reference | 18378697:1092 |
| Sentence | Cockayne syndrome , a devastating progeroid disease leading to early death, is most frequently caused by mutations in Cockayne syndrome group B; the remaining cases of Cockayne syndrome are caused by CSA mutations or by rare alleles of the xeroderma pigmentosum genes XPB, XPD, and XPG (89). |
| TextMods | 122: 'CSB' -> 'Cockayne syndrome group B' 18: '(CS)' -> '' 168: 'CS ' -> 'Cockayne syndrome ' |