|
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases.
|
23486536 |
2013 |
|
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
Collectively, our results show specific methylome and transcriptome defects in both ICF1-iPSCs and differentiated somatic cell lineages, providing a valuable stem cell system for further in vitro study of the molecular pathogenesis of ICF1 syndrome.GEO accession number: GSE46030.
|
25027325 |
2014 |
|
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome.
|
12900541 |
2002 |
|
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Mutation in the DNMT3B DNA methyltransferase gene is a common cause of ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) immunodeficiency syndrome and leads to hypomethylation of satellites 2 and 3 in pericentric heterochromatin.
|
11702227 |
2001 |
|
Immunologic Deficiency Syndromes
|
0.450 |
Biomarker
|
group |
BEFREE |
Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome.
|
11063717 |
2000 |
|
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Lsh/HELLS is critical for normal development and mutations of Lsh in human cause the ICF (Immune deficiency, Centromeric instability, Facial anomalies) syndrome, a severe immune disorder with multiple organ deficiencies.
|
30861354 |
2019 |
|
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
|
10588719 |
1999 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The objective of the current study was to determine the role of microRNA dysregulation in the molecular mechanism governing DNMT3b overexpression in primary breast cancers that express aberrant DNA hypermethylation.
|
24297604 |
2014 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The DNMT3B C-->T promoter polymorphism and risk of breast cancer in a British population: a case-control study.
|
15217506 |
2004 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In conlcusion, the molecular mechanism governing the DNMT3b-mediated hypermethylation defect in breast cancer cell lines involves the loss of post-transcriptional regulation of DNMT3b by regulatory miRs.
|
22664488 |
2012 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The aim of this study was to evaluate the frequencies of methylation of the three genomic loci encoding the miR-124a in primary breast cancers and to investigate their relationships with the clinicopathological characteristics of the tumors and with the expression levels of DNMT1, DNMT3a, and DNMT3b.
|
24375250 |
2014 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNMT3b SNP has been associated with susceptibility to lung, head, neck, and breast cancer, but its association with the development of colon cancer has not been reported.
|
17318376 |
2007 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings demonstrate that H19 induces autophagy activation via the H19/SAHH/DNMT3B axis, which could contribute to tamoxifen resistance in breast cancer.
|
31340867 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Western blot and immunochemistry were used to examine the expression of DNA methyltransferase 3B (DNMT3B) protein in breast cancer cells and tissues.
|
29796115 |
2018 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
The effectiveness of DOX, PAX, and 5-FU is enhanced through targeted and/or pharmacological inhibition of DNMT3b, strongly suggesting that combined epigenetic and cytotoxic treatment will improve the efficacy of breast cancer chemotherapy.
|
21359954 |
2012 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
DNMT3b was significantly overexpressed in breast cancer compared to normal breast tissue.
|
17094413 |
2006 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two SNPs, rs16999593 in DNMT1 and rs2424908 in DNMT3B, were significantly associated with breast cancer risk.
|
23079992 |
2012 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
The current study reveals that the TGF-β1/miR-200s/miR-221/DNMT3B regulatory loop is responsible for the maintenance of CAFs status and is also necessary for CAF function in promoting malignance of breast cancer, which provides a potential target for CAF-driven therapeutic strategy.
|
30851420 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
However, quantitation of methylation confirmed a hypermethylated phenotype at CDH1 and GSTP1 promoters as well as a differential methylation pattern at DNMT3B promoter in breast cancer.
|
28979331 |
2017 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
A combinatorial therapy with hesperetin targeting ABL1, DNMT3B, and MLH1 may be effective in circumventing chemoresistance in breast cancer.
|
31659695 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These observations combine to strongly suggest that: (a) a subset of breast cancer cell lines express a hypermethylator phenotype, (b) the hypermethylation defect in these breast cancer cell lines is related to aberrant overexpression of DNMT activity, (c) overexpression of DNMT3b protein significantly contributes to the elevated DNMT activity observed in tumor cells expressing this phenotype, and (d) the six-gene hypermethylator signature characterized in breast cancer cell lines defines a distinct cluster of primary basal-like breast cancers.
|
18221536 |
2008 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although we failed to identify underexpression of specific target genes associated with DNMT increasing expression, the frequent overexpression of DNMT3B in this breast tumor series points to DNMT3B as a potential new therapeutic target in breast cancer.
|
14555514 |
2003 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
The biological activities of the ethanol extract from Cirsium japonicum var. maackii (ICF-1) and its major component, polyphenol cirsimaritin, were investigated as part of the search for possible alternative drugs for breast cancer.
|
28784292 |
2017 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of the DNMT3b gene and susceptibility and prognosis of gastric cancer.
|
26262893 |
2015 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
While the DNMT3B -149C/T polymorphism was related with a significantly increased risk of CRC in two tested models, dominant (GG+GT vs. TT: OR 0.51, 95 % CI 0.38-0.69; P = 0.00, Pheterogeneity=0.69, I2= 0 %) and heterozygote (GT vs. TT: OR 0.50, 95 % CI 0.37-0.69; P=0.00, Pheterogeneity=0.41, I2= 0 %), no evidence of any association with GC risk was observed as in the pooled analyses.
|
27356727 |
2016 |