|
Mental Retardation, X-Linked 63
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
|
12525535 |
2003 |
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
|
0.510 |
Biomarker
|
disease |
BEFREE |
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.
|
10828604 |
2000 |
|
Liver carcinoma
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
We found that 14 out of 37 (37.8%) HCC expressed moderate to strong FACL4 immunostaining.
|
12824887 |
2003 |
|
Liver carcinoma
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, we showed that the expression levels of acyl-CoA synthetase long-chain family member 4 (ACSL4) were negatively associated with those of miR-205 in clinical HCC tissues.
|
24576478 |
2014 |
|
Liver carcinoma
|
0.360 |
Biomarker
|
disease |
BEFREE |
The acyl-CoA synthetase 4 (ACSL4) is increased in breast cancer, colon and hepatocellular carcinoma.
|
21085606 |
2010 |
|
Liver carcinoma
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
In this study, we detected the expression of FACL4 mRNA in 40 patients with hepatic carcinoma and its adjacent normal tissues by semi-quantitative RT-PCR.
|
18059177 |
2008 |
|
Liver carcinoma
|
0.360 |
Biomarker
|
disease |
BEFREE |
FACL4 is involved in the HCC tumorigenesis and both cAMP and p38 MAPK pathways are associated with the regulation of FACL4 in HCC.
|
15849811 |
2005 |
|
Liver carcinoma
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
Then, immunohistochemical results demonstrated that the ACSL4 positive expression rate was 70.7% in HCC tissues.
|
28887439 |
2017 |
|
Colorectal Carcinoma
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
High expression of ACSL4 predicted a worse prognosis in colorectal cancer, but predicted better prognosis in breast, brain and lung cancer.
|
27171439 |
2016 |
|
Colorectal Carcinoma
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Here, we focus on functional differences and individual contribution of acyl coA synthetases (ACSL) isoforms to the previously described ACSL/stearoyl-CoA desaturase (ACSL1/ACSL4/SCD) metabolic network causing invasion and poor prognosis in colorectal cancer (CRC).
|
28894242 |
2017 |
|
Colorectal Carcinoma
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Despite ACSL4 expression is upregulated progressively in CRC-like organoids, metformin is able to downregulate its expression, especially in the first two stages (I, II).
|
31339921 |
2019 |
|
Mental Retardation, X-Linked 1
|
0.330 |
Biomarker
|
disease |
BEFREE |
As skewed X-inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus.
|
12949969 |
2003 |
|
Mental Retardation, X-Linked 1
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
|
12525535 |
2003 |
|
Mental Retardation, X-Linked 1
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, expression of an MRX-associated ACSL4 mutant form in a wild-type background led to the lesions in visual center, suggesting a dominant negative effect.
|
19617635 |
2009 |
|
Malignant neoplasm of prostate
|
0.320 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis of human PCa tissue samples indicated ACSL4 expression is increased in malignant cells compared with adjacent benign epithelial cells, and particularly increased in castration-resistant PCa (CRPC) when compared with hormone naive PCa.
|
26636648 |
2015 |
|
Malignant neoplasm of prostate
|
0.320 |
Biomarker
|
disease |
BEFREE |
In addition, ACSL4 has been associated to certain types of hormone resistance in prostate cancer.
|
30414939 |
2019 |
|
Depressive disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema.
|
15108178 |
2004 |
|
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We used niacin-induced dermal erythema as one index of AA metabolism to identify a common C to T single nucleotide polymorphism (SNP) in the first intron of the FACL4 gene (Xq22.3), which is associated with enhanced dermal erythema in both schizophrenia and control subjects.
|
15108178 |
2004 |
|
Erythema
|
0.310 |
GeneticVariation
|
phenotype |
BEFREE |
We used niacin-induced dermal erythema as one index of AA metabolism to identify a common C to T single nucleotide polymorphism (SNP) in the first intron of the FACL4 gene (Xq22.3), which is associated with enhanced dermal erythema in both schizophrenia and control subjects.
|
15108178 |
2004 |
|
Intellectual Disability
|
0.160 |
Biomarker
|
group |
BEFREE |
As Drosophila Acsl and human ACSL4 are functionally conserved, our findings provide novel insights into a critical and previously unappreciated role of Acsl in neurogenesis and the pathogenesis of ACSL4-related ID.
|
30594466 |
2019 |
|
Intellectual Disability
|
0.160 |
Biomarker
|
group |
BEFREE |
FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism.
|
11889465 |
2002 |
|
Intellectual Disability
|
0.160 |
Biomarker
|
group |
BEFREE |
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.
|
9480748 |
1998 |
|
Intellectual Disability
|
0.160 |
GeneticVariation
|
group |
BEFREE |
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
|
23520119 |
2013 |
|
Intellectual Disability
|
0.160 |
GeneticVariation
|
group |
BEFREE |
FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation.
|
18614287 |
2008 |
|
Intellectual Disability
|
0.160 |
GeneticVariation
|
group |
BEFREE |
We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene.
|
20186809 |
2010 |