|
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.
|
30711920 |
2019 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Lymphocyte Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Joint stiffness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Macrocephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Brachydactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Synostosis of carpal bones
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Clinodactyly of the 5th finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Aplasia/Hypoplasia of the radius
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of the humerus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the ulna
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Neoplasms
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Nuclear TRIM59 induces ubiquitination and degradation of the tumor suppressive histone variant macroH2A1, leading to enhanced STAT3 signaling activation and tumorigenicity.
|
31488827 |
2019 |
|
Neoplasms
|
0.060 |
Biomarker
|
group |
BEFREE |
Using HCC cell lines, we found that short hairpin RNA-mediated macroH2A1 knockdown induces acquisition of CSC-like features, including the growth of significantly larger and less differentiated tumors when injected into nude mice.
|
28913935 |
2018 |
|
Neoplasms
|
0.060 |
GeneticVariation
|
group |
BEFREE |
We recently showed that loss of macroH2A1, a variant of the histone H2A and an epigenetic regulator of stem-cell function, in HCC leads to CSC-like features such as resistance to chemotherapeutic agents and growth of large and relatively undifferentiated tumors in xenograft models.
|
30165787 |
2018 |
|
Neoplasms
|
0.060 |
Biomarker
|
group |
BEFREE |
The histone variant, macroH2A1, has an important role in embryonic stem cell differentiation and tumor progression in various types of tumors.
|
26028027 |
2016 |
|
Neoplasms
|
0.060 |
AlteredExpression
|
group |
BEFREE |
To detect differential expression of macroH2A1 variant mRNAs in breast cancer cells and tumor samples, we used the following databases: GEO, EMBL-EBI and publisher databases (may-august 2012).
|
24911873 |
2014 |
|
Neoplasms
|
0.060 |
Biomarker
|
group |
BEFREE |
Studying tumor suppressor genes (TSGs) silenced in cancer cell lines, we find that when active, these promoters are associated with H2A.Z but become enriched for macroH2A1 once silenced.
|
21030442 |
2011 |
|
Liver carcinoma
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
We recently showed that loss of macroH2A1, a variant of the histone H2A and an epigenetic regulator of stem-cell function, in HCC leads to CSC-like features such as resistance to chemotherapeutic agents and growth of large and relatively undifferentiated tumors in xenograft models.
|
30165787 |
2018 |
|
Liver carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
In human HCC sections we uncovered a significant correlation between low frequencies of macroH2A1 staining and advanced, aggressive HCC subtypes with poorly differentiated tumor phenotypes.
|
28913935 |
2018 |
|
Liver carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
In response to the chemotherapeutic and DNA-demethylating agent 5-aza-deoxycytidine (5-aza-dC), transgenic expression of macroH2A1 isoforms in HCC cell lines prevented the emergence of a senescent-like phenotype and induced synergistic global DNA hypomethylation.
|
26772755 |
2016 |
|
Liver carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Hepatoma cell line and immortalized human hepatocytes transiently transfected or knocked down with macroH2A1 isoforms were used as in vitro model of fat-induced steatosis.
|
25526730 |
2015 |
|
Liver carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Protein levels for both macroH2A1 isoforms were massively upregulated in HCC, whereas macroH2A1.2 was specifically upregulated in steatosis.
|
23372727 |
2013 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Because the contribution of this histone variant to carcinogenesis has been reported in several cancer types, but not for PCa, we aimed to investigate the contribution of MacroH2A1 for prostate carcinogenesis.
|
31164793 |
2019 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
MacroH2A1 is a variant of histone H2A, present in two alternatively exon-spliced isoforms macroH2A1.1 and macroH2A1.2, regulating cell plasticity and proliferation, during pluripotency and tumorigenesis.
|
29206173 |
2017 |