(Q41056676)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

review article

1 reference

title

Menkes disease: recent advances and new insights into copper metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

N Horn

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

language of work or name

English

0 references

publication date

1 April 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

page(s)

121-129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

Menkes disease: an X-linked neurological disorder of the copper metabolism

17 October 2019

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Menkes' kinky-hair syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Linkage studies in Menkes' disease. The Xg blood group system and C-banding of the X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

X-linked genetic homologies between mouse and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Isolation of a partial candidate gene for Menkes disease by positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Wilson's disease: Current status

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Wilson disease and Menkes disease: new handles on heavy-metal transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

The Wilson disease gene: spectrum of mutations and their consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

The mottled gene is the mouse homologue of the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Correction of the genetic defect in hepatocytes from the Watanabe heritable hyperlipidemic rabbit.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

P-type ATPase from the cyanobacterium Synechococcus 7942 related to the human Menkes and Wilson disease gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

A putative P-type Cu(2+)-transporting ATPase gene on chromosome II of Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Sequence, mapping and disruption of CCC2, a gene that cross-complements the Ca(2+)-sensitive phenotype of csg1 mutants and encodes a P-type ATPase belonging to the Cu(2+)-ATPase subfamily.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

Predictive testing for Wilson's disease using tightly linked and flanking DNA markers

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899609092936

10.3109/07853899609092936

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8732640%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference