Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATPase copper transporting α (ATP7A), also known as Menkes disease protein, is a P-type ATPase that transports copper across cell membranes.
|
31396659 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD.
|
31109608 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.
|
31558336 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A.
|
31279518 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency.
|
31250568 |
2019 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy.
|
29599289 |
2018 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Indeed, mutations in the central copper exporter ATP7A contribute to a spectrum of diseases, including Menkes disease, with symptoms ranging from neurodegeneration to lax connective tissue.
|
29507920 |
2018 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
|
28389643 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
|
28397151 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We determined in silico that all the mutations leading to the classical Menkes disease leave no residual activity of ATP7A including the apparently less severe in-frame deletions.
|
28451781 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene.
|
25771438 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.
|
28657131 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mosaic mutant mice displaying functional dysfunction of Atp7a copper transporter (the Menkes ATPase) are an established animal model of Menkes disease and constitute a convenient tool for investigating connections between copper and iron metabolisms.
|
28219768 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neuroimaging Changes in Menkes Disease, Part 2.
|
28495940 |
2017 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers.
|
26242992 |
2016 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) is caused by mutations in ATP7A gene.
|
27629586 |
2016 |
Menkes Kinky Hair Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies.
|
27226607 |
2016 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome.
|
27293072 |
2016 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy.
|
25172213 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene.
|
26239182 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes.
|
25583185 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism.
|
26199316 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
|
24882692 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that ATP7A dysfunction contributes to retardation in MSC development and impairs osteogenesis in MD.
|
26347346 |
2015 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |