(Q41863725)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

main subject

occipital horn syndrome

1 reference

S Das

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

B Levinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

C Vulpe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

S Whitney

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J Gitschier

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

S Packman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

570-576

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Diverse mutations in patients with Menkes disease often lead to exon skipping

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

A PCR artifact: generation of heteroduplexes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Changes of copper level and cytochrome c oxidase activity in the macular mouse with age.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Catecholamine biosynthesis and the activity of a number of copper-dependent enzymes in the copper deficient mottled mouse mutants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801180

Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7887410

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7887410

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887410%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference