|
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
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 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical utility gene card for: acrodermatitis enteropathica.
|
22166942 |
2012 |
|
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 |
Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset.
|
21906148 |
2012 |
|
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 |
Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica.
|
21165302 |
2010 |
|
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 |
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 |
Biomarker
|
disease |
CTD_human |
The human Zip4 gene (Slc39a4) is mutated in the rare recessive genetic disorder of zinc metabolism acrodermatitis enteropathica, but the physiological functions of Zip4 are not well understood.
|
17483098 |
2007 |
|
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 |
Recently, the basic defect in AE was found to lie in SLC39A4.
|
16714095 |
2006 |
|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
CTD_human |
The ZIP5 gene encodes a protein closely related to ZIP4, a zinc transporter mutated in the human genetic disorder acrodermatitis enteropathica.
|
15358787 |
2004 |
|
Acrodermatitis enteropathica
|
1.000 |
Biomarker
|
disease |
CTD_human |
To investigate the effects of these mutations on function of the Zip4 transporter, we introduced six AE-associated missense mutations into the orthologous mouse ZIP4 gene for functional expression in cultured cells.
|
14709598 |
2004 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Complete sequencing and characterization of 21,243 full-length human cDNAs.
|
14702039 |
2004 |
|
Acrodermatitis enteropathica
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
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 |
This study brings to 21 the number of reported SLC39A4 mutations in AE families.
|
12955721 |
2003 |
|
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 |