Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Menkes disease (MD), an X-linked recessive disorder of copper metabolism caused by mutations in the copper-transporting ATP7A gene, results in growth failure and severe neurodegeneration in early childhood.
|
24627433 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter.
|
25247420 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome.
|
24754450 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Investigation of RNA isolated from the fibroblasts of eleven patients with no identified mutations was performed, and revealed inclusion of new pseudo-exons into the ATP7A mRNA from three unrelated patients: two patients with OHS and one patient with classical Menkes disease.
|
24002164 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
ATP7B activity is stimulated by PKCɛ in porcine liver.
|
25003971 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.
|
24630286 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A.
|
25456742 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A.
|
25456742 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Abnormal reticular distribution of ATP7A was observed in MD-fibroblasts and MD-iPSCs, respectively.
|
24468087 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that early copper histidine for Menkes disease is safe and efficacious, with treatment outcomes influenced by the timing of intervention, and ATP7A mutation.
|
25281031 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A.
|
25456742 |
2014 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neuropathy.
|
23622398 |
2013 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a synonymous ATP7A substitution being responsible for MD.
|
24100245 |
2013 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study reviews 274 published and 18 novel disease causing mutations identified in 370 unrelated MD patients, nonpathogenic variants of ATP7A, functional studies of the ATP7A mutations, and animal models of MD.
|
23281160 |
2013 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
|
22130675 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
The essential requirement for copper in early development is dramatically illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by loss-of-function mutations in the gene encoding the copper transporting ATPase ATP7A.
|
23064757 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).
|
22815746 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
|
23035047 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
|
22695177 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Menkes disease (MD) is a genetic neurodegenerative disorder characterized by copper deficiency due to a defect in ATP7A.
|
22664332 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease.
|
22992316 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), ATP7B (Wilson's disease), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2.
|
22455587 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males.
|
22264391 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail.
|
21667063 |
2012 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
These investigations suggest that prenatally initiated copper replacement is inadequate to correct Menkes disease caused by severe loss-of-function mutations, and that postnatal ATP7A gene addition represents a rational approach in such circumstances.
|
22695177 |
2012 |