×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Mutations in the MNK (ATP7A ) gene result in Menkes disease , a fatal neurodegenerative copper deficiency disorder.
17009961
2007
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
An important model of MD is the Mottled mouse, which possesses mutations in Atp7A .
17483305
2007
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Mitochondrial involvement in genetically determined transition metal toxicity II. Copper toxicity.
16824500
2006
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CLINGEN
Correction of a mouse model of Menkes disease by the human Menkes gene.
16488577
2006
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Menkes disease , a fatal neurodegenerative disorder resulting in seizures, hypotonia, and failure to thrive, is due to inherited loss-of-function mutations in the gene encoding a copper-transporting ATPase (Atp7a ) on the X chromosome.
17003121
2006
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.
16278898
2005
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease.
16435190
2005
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Menkes disease (MD ) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A ) that normally delivers copper to the central nervous system.
15923132
2005
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
UNIPROT
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
15981243
2005
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Early development of occipital horns in a classical Menkes patient.
15372525
2004
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK ) and Wilson disease (WND), respectively.
14579150
2004
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The present data suggests that gross deletion of ATP7A is the disease-causing mutation in 14.9% of the Menkes disease patients.
14635105
2003
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
The Menkes protein (MNK; ATP7A ) is a copper-transporting P-type ATPase that is defective in the copper deficiency disorder, Menkes disease .
12228238
2002
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
In this study, a Menkes disease mutation, G1019D, located in the large cytoplasmic loop of MNK , was characterized in transfected cultured cells.
12221109
2002
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
UNIPROT
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
11241493
2001
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
11350187
2001
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
UNIPROT
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
11350187
2001
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
11157799
2001
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
CTD_human
Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK ) gene.
11092760
2000
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
UNIPROT
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
10401004
1999
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
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
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
UNIPROT
Mutation spectrum of ATP7A , the gene defective in Menkes disease .
10079817
1999
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
Biomarker
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
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
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
×
Entrez Id:
538
Gene Symbol:
ATP7A
ATP7A
Menkes Kinky Hair Syndrome
1.000
GeneticVariation
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