|
Endometriosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study suggests that certain single nucleotide polymorphisms of nucleotide excision repair genes excision repair cross-complementation group 1 (ERCC1, ERCC2, and ERCC6) predispose women to the development of endometriosis.
|
31373346 |
2019 |
|
Childhood Myelodysplastic Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We evaluated a possible role of DNA repair pathways using gene expression of single-strand break (XPA, XPC, XPG/ERCC5, CSA/ERCC8, and CSB/ERCC6) and double-strand break (ATM, BRCA1, BRCA2, RAD51, XRCC5, XRCC6, LIG4) in 92 patients with myelodysplastic syndrome (73 de novo, 9 therapy-related (t-MDS).
|
31667665 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We evaluated a possible role of DNA repair pathways using gene expression of single-strand break (XPA, XPC, XPG/ERCC5, CSA/ERCC8, and CSB/ERCC6) and double-strand break (ATM, BRCA1, BRCA2, RAD51, XRCC5, XRCC6, LIG4) in 92 patients with myelodysplastic syndrome (73 de novo, 9 therapy-related (t-MDS).
|
31667665 |
2019 |
|
Atrial Fibrillation
|
0.010 |
Biomarker
|
disease |
BEFREE |
Risk factors for CSB are older age, male gender, high BMI, atrial fibrillation and hypocapnia.The pathophysiology of CSB has been explained by the loop gain theory, where a controller (the respiratory center) and a plant (the lungs) are operating in a reciprocal relationship (negative feedback) to regulate a key parameter (partial pressure of carbon dioxide (pCO<sub>2</sub>)).
|
29411336 |
2018 |
|
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
CSB has been described in both CHF patients with preserved and reduced ejection fraction, regardless of drug treatment.
|
29411336 |
2018 |
|
Hypersexuality state
|
0.010 |
Biomarker
|
disease |
BEFREE |
In Study 3 (N = 112), we examined whether the I-CSB differentiates between individuals who suffer from compulsive sexual behavior and those who do not.
|
29281592 |
2018 |
|
Compulsive sexual behaviour
|
0.010 |
Biomarker
|
disease |
BEFREE |
In Study 3 (N = 112), we examined whether the I-CSB differentiates between individuals who suffer from compulsive sexual behavior and those who do not.
|
29281592 |
2018 |
|
Malignant tumor of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We stably knocked down ERCC6 expression using short hairpin RNA (shRNA) in HCT116 and DLD1 human colon cancer cell lines, followed by chemosensitivity assay.
|
28665687 |
2017 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We stably knocked down ERCC6 expression using short hairpin RNA (shRNA) in HCT116 and DLD1 human colon cancer cell lines, followed by chemosensitivity assay.
|
28665687 |
2017 |
|
Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistically, loss of CSA or CSB leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures, and recombinant CSB can melt G-quadruplex structures.
|
27791127 |
2016 |
|
Nuclear cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
Ultraviolet-B induces ERCC6 repression in lens epithelium cells of age-related nuclear cataract through coordinated DNA hypermethylation and histone deacetylation.
|
27231489 |
2016 |
|
Central neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistically, loss of CSA or CSB leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures, and recombinant CSB can melt G-quadruplex structures.
|
27791127 |
2016 |
|
Nuclear non-senile cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
Ultraviolet-B induces ERCC6 repression in lens epithelium cells of age-related nuclear cataract through coordinated DNA hypermethylation and histone deacetylation.
|
27231489 |
2016 |
|
Childhood Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistically, loss of CSA or CSB leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures, and recombinant CSB can melt G-quadruplex structures.
|
27791127 |
2016 |
|
Premature Menopause
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
|
26218421 |
2015 |
|
Ovarian Failure, Premature
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
|
26218421 |
2015 |
|
Progeria
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c. [543+4delA];[2008C>T]) and brain hypomyelination, microcephaly, cognitive decline, and skill regression but without photosensitivity or progeria.
|
25251875 |
2014 |
|
Liver carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results indicate that Ad-NDRG2 enhances the p53-mediated apoptosis of hepatocarcinoma cells (HepG2 and Huh7) by attenuating the nucleotide excision repair capacity (i.e., by downregulating ERCC6), and ERCC6 is a NDRG2-inducible target gene that is involved in the p53-mediated apoptosis pathway.
|
24383128 |
2014 |
|
AIDS related complex
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study examined the associations of 18 single nucleotide polymorphisms (SNPs) in four DNA repair genes (BLM, WRN, ERCC6, and OGG1) with ARC in Han Chinese from the Jiangsu Eye Study, a population-based epidemiologic study.
|
23322570 |
2013 |
|
Cachexia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.
|
23311583 |
2013 |
|
Contracture of joint
|
0.010 |
GeneticVariation
|
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 |
|
Leukodystrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.
|
23311583 |
2013 |
|
Malignant Head and Neck Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among African Americans, rs4253132 on ERCC6 was associated with decreased HNC odds (CC+CT vs. TT; OR, 0.62; 95% CI, 0.45-0.86).
|
23720401 |
2013 |
|
Differentiated Thyroid Gland Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate the role of NER pathway SNPs in DTC susceptibility, we performed a case-control study in 106 Caucasian Portuguese DTC patients and 212 matched controls. rs2230641 (CCNH), rs2972388 (CDK7), rs1805329 (RAD23B), rs3212986 (ERCC1), rs1800067 (ERCC4), rs17655, rs2227869 (ERCC5), rs4253211 and rs2228529 (ERCC6) were genotyped using TaqMan® methodology, while conventional PCR-RFLP was employed for rs2228000 and rs2228001 (XPC).
|
23982724 |
2013 |
|
Head and Neck Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among African Americans, rs4253132 on ERCC6 was associated with decreased HNC odds (CC+CT vs. TT; OR, 0.62; 95% CI, 0.45-0.86).
|
23720401 |
2013 |