|
Uranostaphyloschisis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
|
20436469 |
2010 |
|
Cleft lip or lips
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
|
20436469 |
2010 |
|
Leukemia, Plasma Cell
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We investigated the expression profiles of the FGFR3/MMSET, CCND1, CCND3, MAF, and MAFB genes, which are involved in t(4;14)(p16.3;q32), t(11;14)(q13;q32), t(6;14)(p21;q32), t(14;16)(q32;q23), and t(14;20)(q32;q12), respectively, in purified plasma cell populations from 39 MMs and six plasma cell leukemias (PCL) by DNA microarray analysis and compared the results with the presence of translocations as assessed by dual-color FISH or RT-PCR.
|
15543617 |
2005 |
|
Lymphoma
|
0.010 |
Biomarker
|
group |
BEFREE |
Oncogenes common to both lymphomas are MAFB, MET, NF-kappaB2, LCK, and LYN.
|
16373702 |
2005 |
|
Milroy Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Furthermore, gene expression profiling enabled the identification of putative translocations causing dysregulation of CCND1 (1 MM and 1 PCL) and MAFB (1 MM and 1 PCL) without any apparent involvement of immunoglobulin loci.
|
15543617 |
2005 |
|
Cleft palate with cleft lip
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.
|
31387249 |
2019 |
|
Cleft palate with cleft lip
|
0.020 |
Biomarker
|
disease |
BEFREE |
After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).
|
28662356 |
2017 |
|
Ischemic stroke
|
0.020 |
Biomarker
|
disease |
BEFREE |
MAFB prevents excess inflammation after ischemic stroke by accelerating clearance of damage signals through MSR1.
|
28394332 |
2017 |
|
Ischemic stroke
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study.
|
26204962 |
2015 |
|
Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
We identified MAFB as a putative target of miRNA-199a-5p in TGCTs and confirmed that the tumor suppression activity of the microRNA is mediated by its target MAFB.
|
24391856 |
2013 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Apart from chromosome content, the two pathways are distinguished by five primary immunoglobulin heavy chain (IGH) rearrangements (4p16, FGFR3, and MMSET; 6p21, CCND3; 11q13, CCND1; 16q23, MAF; 20q12, MAFB) that are present mainly in NHRD tumors.
|
18381641 |
2008 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.
|
10444328 |
1999 |
|
Multiple Myeloma
|
0.080 |
AlteredExpression
|
disease |
BEFREE |
We found high levels of MAFb protein in cell lines with t(14;20), in one line with t(6;20), in one with Igλ insertion into MAFb locus, and in primary plasma cells from MM patients with t(14;20).
|
29980194 |
2018 |
|
Multiple Myeloma
|
0.080 |
AlteredExpression
|
disease |
BEFREE |
We now confirm that PIM2 is overexpressed in multiple myeloma (MM) patients, and within MM group it is overexpressed in the high-risk MF subset (activation of proto-oncogenes MAF/MAFB).
|
28008178 |
2017 |
|
Multiple Myeloma
|
0.080 |
AlteredExpression
|
disease |
BEFREE |
In studies of patients with multiple myeloma (MM), gene expression profiling (GEP) of myeloma cells demonstrates substantially higher expression of MMSET, FGFR3, CCND3, CCND1, MAF, and MAFB--the partner genes of 14q32 translocations--than GEP of plasma cells from healthy individuals.
|
24638926 |
2014 |
|
Multiple Myeloma
|
0.080 |
Biomarker
|
disease |
LHGDN |
These genes were further evaluated comparatively with gene expression profiles obtained from MM or plasma cell leukemia tumors carrying an activated MAFB gene.
|
19013005 |
2009 |
|
Multiple Myeloma
|
0.080 |
AlteredExpression
|
disease |
BEFREE |
These genes were further evaluated comparatively with gene expression profiles obtained from MM or plasma cell leukemia tumors carrying an activated MAFB gene.
|
19013005 |
2009 |
|
Multiple Myeloma
|
0.080 |
Biomarker
|
disease |
BEFREE |
Furthermore, gene expression profiling enabled the identification of putative translocations causing dysregulation of CCND1 (1 MM and 1 PCL) and MAFB (1 MM and 1 PCL) without any apparent involvement of immunoglobulin loci.
|
15543617 |
2005 |
|
Multiple Myeloma
|
0.080 |
Biomarker
|
disease |
BEFREE |
Based on results, we conclude that ARK5 is a transcriptional target of the Large-MAF family through MARE sequence and that ARK5 may in part mediate the aggressive phenotype associated with c-MAF- and MAFB-expressing myelomas.
|
16044163 |
2005 |
|
Multiple Myeloma
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
The recurrent translocation t(14;20)(q32;q12) in multiple myeloma results in aberrant expression of MAFB: a molecular and genetic analysis of the chromosomal breakpoint.
|
15257707 |
2004 |
|
Multiple Myeloma
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Double color fluorescence in situ hybridization analyses pinpointed the breakpoints at the 20q11 locus in two MM cell lines within a length of at most 680 kb between the KIAA0823 and MAFB gene loci.
|
11429052 |
2001 |
|
Amblyopia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Aniridia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Arthralgia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Blepharophimosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|