Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
[Total sex-linkage in the house mouse].
|
13103353 |
1953 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice.
|
4808708 |
1974 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Primary defect in copper transport underlies mottled mutants in the mouse.
|
4858102 |
1974 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome.
|
6685755 |
1983 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Urate oxidase activity and copper content in the liver of macular mutant mouse, a model animal for human congenital copper deficiency, Menkes' kinky hair disease.
|
1819648 |
1991 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease.
|
8298639 |
1993 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to the gene (ATP7A) responsible for another human copper transport disorder, X-linked Menkes disease (MNK).
|
7833924 |
1994 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection.
|
7977350 |
1994 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection.
|
7977350 |
1994 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While the spectrum of mutations detected in the Atp7a murine gene provides an explanation for at least part of the wide phenotypic variation observed in mottled mutant mice, there is a singular absence of deletions which are associated with a sizeable fraction of human Menkes syndrome cases.
|
9147646 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene).
|
8981948 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A 31P-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: potential model for the mitochondrial encephalomyopathies.
|
9342151 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The nature of the mutation in the brindled mouse is of importance in our understanding of the role of MNK and for devising treatment strategies for Menkes disease.
|
9215672 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease.
|
9166584 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
While the spectrum of mutations detected in the Atp7a murine gene provides an explanation for at least part of the wide phenotypic variation observed in mottled mutant mice, there is a singular absence of deletions which are associated with a sizeable fraction of human Menkes syndrome cases.
|
9147646 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr).
|
9147645 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene).
|
8981948 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene).
|
8981948 |
1997 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with Menkes syndrome are predicted to have little or no MNK activity, whereas patients with occipital horn syndrome have less severe mutations and some residual MNK activity is predicted.
|
9587146 |
1998 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Menkes protein (MNK or ATP7A) is an important component of the mammalian copper transport pathway and is defective in Menkes disease, a fatal X-linked disorder of copper transport.
|
9668172 |
1998 |
Menkes Kinky Hair Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice.
|
10098864 |
1999 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene.
|
10332039 |
1999 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
|
10401004 |
1999 |
Menkes Kinky Hair Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified three novel mutations of the MNK gene in three unrelated Japanese patients with classical Menkes disease by analyzing reverse-transcriptase polymerase chain reaction products and genomic DNA of the MNK gene.
|
10319589 |
1999 |