|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
BEFREE |
These studies strongly suggest that wasting and lethality in acrodermatitis enteropathica patients reflects the loss-of-function of the intestine zinc transporter ZIP4, which leads to abnormal Paneth cell gene expression, disruption of the intestinal stem cell niche, and diminished function of the intestinal mucosa.
|
22737083 |
2012 |
|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
BEFREE |
Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations.
|
18936158 |
2009 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4.
|
25780817 |
2016 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
About half of the missense AE-causing mutations occur within the large N-terminal extracellular domain (ECD), and our previous study has shown that ZIP4-ECD is crucial for optimal zinc uptake but the underlying mechanism has not been clarified.
|
31164399 |
2019 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
|
12068297 |
2002 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica.
|
16889938 |
2006 |
|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
BEFREE |
Conditional knockout of the intestinal zinc transporter Zip4 (Slc39a4) in mice creates a model of the lethal human genetic disease acrodermatitis enteropathica (AE).
|
24015258 |
2013 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 2002, both we and others identified the AE SLC39A4 gene located at 8q24.3, and described the first causative mutations for the disease.
|
19370757 |
2009 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations.
|
12787121 |
2003 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent research revealed that mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica.
|
20300938 |
2010 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study brings to 21 the number of reported SLC39A4 mutations in AE families.
|
12955721 |
2003 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells.
|
24586184 |
2014 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone.
|
22082465 |
2012 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica.
|
21165302 |
2010 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease.
|
12032886 |
2002 |
|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, the basic defect in AE was found to lie in SLC39A4.
|
16714095 |
2006 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset.
|
21906148 |
2012 |
|
Neoplasm Metastasis
|
0.360 |
Biomarker
|
phenotype |
BEFREE |
In contrast, ZIP4 silencing by lentivirus-mediated shRNA inhibited the EMT and metastasis of C666-1 cells in vitro and in vivo.
|
31383854 |
2019 |
|
Neoplasm Metastasis
|
0.360 |
Biomarker
|
phenotype |
BEFREE |
Silencing of ZIP4 also caused reduced incidence of tumor metastasis in the mice and downsized the tumor grade.
|
19755388 |
2009 |
|
Neoplasm Metastasis
|
0.360 |
Biomarker
|
phenotype |
BEFREE |
Collectively, these data suggest that SLC39A4 may be a novel therapeutic target and predictive marker of tumour metastasis in non-small cell lung cancer.
|
28775359 |
2017 |
|
Neoplasm Metastasis
|
0.360 |
Biomarker
|
phenotype |
BEFREE |
In this study, we further investigated the key molecules regulated by ZIP4 in pancreatic cancer angiogenesis and metastasis.
|
20023433 |
2010 |
|
Neoplasm Metastasis
|
0.360 |
Biomarker
|
phenotype |
BEFREE |
The zinc transporter ZIP4 promotes growth and metastasis of pancreatic tumors.
|
30342032 |
2019 |
|
Neoplasm Metastasis
|
0.360 |
AlteredExpression
|
phenotype |
BEFREE |
Clinically, we demonstrated that ZIP4 positively correlates with the levels of ZEB1 and inversely associates with the expression of ZO-1 and claudin-1.<b>Conclusions:</b> These findings suggest a novel pathway activated by ZIP4-controlling pancreatic cancer invasiveness and metastasis, which could serve as a new therapeutic target for this devastating disease.<i></i>.
|
29615456 |
2018 |
|
Acrodermatitis
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone.
|
22082465 |
2012 |
|
Acrodermatitis
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that ZIP4 is essential for maintaining human epidermal homeostasis through the regulation of Zn-dependent ΔNp63 activity and can provide insight into the molecular mechanisms responsible for the cutaneous symptoms observed in Acrodermatitis enteropathica patients.
|
27940220 |
2017 |