|
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
|
22070778 |
2012 |
|
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly.
|
27339457 |
2016 |
|
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations.
|
20389311 |
2010 |
|
Cutis Laxa
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa.
|
24733866 |
2014 |
|
Cutis Laxa
|
0.650 |
Biomarker
|
disease |
BEFREE |
Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities.
|
26178373 |
2015 |
|
Aortic Aneurysm
|
0.620 |
Biomarker
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in fibulin-4 (<i>FBLN4</i>) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms.
|
28508064 |
2017 |
|
Aortic Aneurysm
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections.
|
30355232 |
2018 |
|
Prostatic Neoplasms
|
0.310 |
Biomarker
|
group |
BEFREE |
Next, we investigated the therapeutic effectiveness of MBP-1 repressor domain on prostate tumors.
|
15705866 |
2005 |
|
Malignant neoplasm of prostate
|
0.310 |
Biomarker
|
disease |
BEFREE |
Knockdown of MBP-1 in human prostate cancer cells delays cell cycle progression.
|
16762917 |
2006 |
|
Arachnodactyly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly.
|
27339457 |
2016 |
|
Arachnodactyly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
|
19664000 |
2009 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Evidence is presented linking biotinylation of heat-shock proteins HSP60 and HSP72 with redox biology and immune function, respectively, and biotinylation of the two ENO1 gene products MBP-1 and ENO1 with tumor suppression and glycolysis, respectively.
|
24684412 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
One alternative translated product of the ENO1 gene, known as MBP-1, acts as a negative regulator of the c-myc oncogene, making the ENO1 gene a candidate as a tumour suppressor gene.
|
16359544 |
2005 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Apart from the known differentially expressed genes on 11q13 (e.g., phosphofurin acidic cluster sorting protein 1 (PACS1) and FOS ligand 1 (FOSL1 or Fra-1)), we detected novel differentially expressed cellular genes located within the tumor suppressor gene region (e.g., EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) and leucine rich repeat containing 32 (LRRC32) (also known as glycoprotein-A repetitions predominant (GARP)) that may have potential tumor suppressor functions in this model system of non-tumorigenic and tumorigenic HeLa x fibroblast hybrid cells.
|
24042169 |
2013 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Interestingly and in contrast with our expectation, we found that the expression level of FBLN-4 and BCRP were downregulated in tumor compared to adjacent normal tissues.
|
28282800 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Downregulation of tumor suppressor MBP-1 by microRNA-363 in gastric carcinogenesis.
|
23975832 |
2014 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Reverse transcription-polymerase chain reaction analysis of RNA from paired human colon tumour and adjacent normal tissue biopsies showed that a significant proportion of tumours had approximately 2-7-fold increases in the level of fibulin-4 mRNA expression.
|
11231014 |
2001 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To assess the angiogenic properties of fibulin-4, vascular endothelial growth factor (VEGF) expression and tumor microvessel density were analyzed in ovarian carcinoma by immunohistochemistry.
|
25885889 |
2015 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
These results demonstrate that malignant cells adapt to hypoxia by modulating alpha-enolase/MBP-1 levels and suggest a mechanism for tumor cell induction of the hyperglycolytic state.
|
20412594 |
2010 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We propose that MBP1 is the product of a candidate oncogene as rates of both neoplastic transformation and tumour cell growth were shown to be significantly enhanced when the protein is ectopically overexpressed.
|
10380882 |
1999 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To assess the angiogenic properties of fibulin-4, vascular endothelial growth factor (VEGF) expression and tumor microvessel density (MVD) were analyzed in the cervical carcinoma cases by immunohistochemistry.
|
24737201 |
2014 |
|
Cutis laxa, autosomal recessive
|
0.070 |
Biomarker
|
disease |
BEFREE |
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
|
16685658 |
2006 |
|
Cutis laxa, autosomal recessive
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.
|
23532871 |
2013 |
|
Cutis laxa, autosomal recessive
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity.
|
29362193 |
2018 |
|
Cutis laxa, autosomal recessive
|
0.070 |
Biomarker
|
disease |
BEFREE |
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
|
20389311 |
2010 |