Disease: Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mapping disease mutations associated with xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome onto defined communities reveals clustering into three mechanistic classes that affect TFIIH helicase functions, protein interactions and interface dynamics. 31110295 2019
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients. 26149386 2015
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer. 25431422 2015
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. 25500814 2014
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with joint contractures, cataracts, and early death. 23622385 2013
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Moreover, mutations in the TFIIH subunits XPB and XPD found in Cockayne syndrome impair the interaction of TFIIH with the rDNA, but do not influence initiation complex formation or promoter escape of RNA polymerase I, but preclude the productivity of the enzyme by reducing transcription elongation in vivo and in vitro. 21965540 2012
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects. 21592869 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in certain subunits of the DNA repair/transcription factor complex TFIIH are linked to the human syndromes xeroderma pigmentosum (XP), Cockayne's syndrome (CS), and trichothiodystrophy (TTD). 19008953 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE A recent report provides a molecular basis for how mutations in the NER endonuclease XPG that affect the interaction of TFIIH might give rise to CS features. 18077223 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Cockayne syndrome (CS) cells and xeroderma pigmentosum (XP) cells (XPD, XPA, XPG, and XPF) were defective in Pol II degradation, whereas XPC cells whose defect is limited to global genome NER in nontranscribing regions were proficient for Pol II degradation. 18927284 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease LHGDN Based on our results, we suggest a model of how DNA is bound to the XPD protein, and can rationalize several of the mutations in the human XPD gene that lead to one of three severe diseases, xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 18578568 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 17466625 2007
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE NER involves more than 20 proteins whose inactivation leads to xeroderma pigmentosum (XP) or cockayne syndrome (CS), among which XPD, a helicase allowing DNA strand excision by the endonuclease XPG. 16646069 2006
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). 16904611 2006
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS. 16246722 2005
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS. 14726016 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. 12116233 2002
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Moreover, XPD and XPA cells are more sensitive to ultraviolet-induced apoptosis than trichothiodystrophy and Cockayne's syndrome fibroblasts, suggesting that both cyclobutane pyrimidine dimers and pyrimidine 6-4 pyrimidone on the transcribed strand trigger apoptosis. 11710928 2001
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Missense mutations within the helicase regions of these genes are associated with DNA repair deficiencies and XPD; mutations elsewhere in these genes are correlated with symptoms of XP and Cockayne syndrome and trichothiodystrophy. 10699759 2000
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy. 10660593 2000
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the XPD gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. 9238033 1997
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB and XPD proteins are subunits of RNA polymerase II (RNAP II) transcription factor IIH (TFIIH). 9278484 1997