Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE ERCC2 mutations in two siblings with a severe Trichothiodystrophy phenotype. 31803976 2020
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in ERCC2. 31282071 2019
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 AlteredExpression disease BEFREE Using quantitative imaging of TFIIH in living mouse cells, we found that these molecules reduce the intracellular concentration of TFIIH and its transcriptional activity to levels similar to that observed in individuals with trichothiodystrophy owing to mutated <i>TTD-A</i> Our results provide a proof of concept of fragment-based drug discovery, demonstrating the utility of small molecules for targeting p8 dimerization to modulate the transcriptional machinery, an approach that may help inform further development in anticancer therapies. 30068551 2018
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. 30580289 2018
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 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: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. 25620205 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 AlteredExpression disease BEFREE TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin. 25605938 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very rare genodermatosis with deficient post-ultraviolet (UV) DNA repair. 24986372 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 Biomarker disease BEFREE Three different TFIIH coding genes are implicated in TTD: XPD, XPB and TTDA. 25016283 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE To further grasp the molecular mechanisms that govern transcription, we focused our attention on the general transcription factor TFIIH, which gives rise, once mutated, to Trichothiodystrophy (TTD), a rare autosomal premature-ageing disease causing inter alia, metabolic dysfunctions. 25340339 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 23221806 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD. 23232694 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 AlteredExpression disease BEFREE Interestingly, the XP/CS patient's cells exhibited a reduced but well detectable XPD protein expression compared with hardly detectable XPD expression of the TTD patient's cells. 23800062 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Four genes, including XPD, can cause trichothiodystrophy (TTD) with sulfur-deficient, brittle, tiger-tail hair, and growth and developmental inadequacy. 23622385 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Our results suggested a link between TTD- but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta. 22234153 2012
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. 22617342 2012
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 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: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE TTD group A (TTD-A) patients carry mutations in the smallest TFIIH subunit, TTDA, which is an 8-kDa protein that dynamically interacts with TFIIH. 21730288 2011
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation 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: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 AlteredExpression disease BEFREE Ongoing investigations on TTD are elucidating not only the pathogenesis of the disease, which appears to be mainly related to transcriptional impairment, but also the modalities of NER and transcription in human cells and how TFIIH operates in these two fundamental cellular processes. 19931493 2010
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Compared to the previously described TTD compound heterozygotes for the Arg722Trp change, Patient TTD24PV's cells show similar level of TFIIH but increased repair activity, suggesting that even low amounts of normal XPD subunits are able to partially rescue the functionality of TFIIH complexes. 19085937 2009
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 Biomarker disease BEFREE Moreover, mutations in any of these three TFIIH subunits also disturb the overall architecture of the TFIIH complex and its ability to transactivate certain nuclear receptor-responsive genes, explaining in part, some of the TTD phenotypes. 19808800 2009
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. 18470933 2008
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene, coding for a subunit of the transcription/repair factor IIH (TFIIH) complex involved in nucleotide excision repair (NER) and transcription. 18676829 2008
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation disease BEFREE Patients with the rare neurodevelopmental repair syndrome known as group A trichothiodystrophy (TTD-A) carry mutations in the gene encoding the p8 subunit of the transcription and DNA repair factor TFIIH. 19172752 2008