(Q24539128)

5 July 2017

title

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome (English)

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ORCID Public Data File 2021

5 July 2017

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occipital horn syndrome

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author name string

Møller LB

1

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5 July 2017

Tümer Z

2

1 reference

5 July 2017

Lund C

3

1 reference

5 July 2017

Petersen C

4

1 reference

5 July 2017

Cole T

5

1 reference

5 July 2017

Hanusch R

6

1 reference

5 July 2017

Seidel J

7

1 reference

5 July 2017

Jensen LR

8

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5 July 2017

Horn N

9

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5 July 2017

language of work or name

English

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publication date

17 March 2000

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American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

volume

66

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5 July 2017

issue

4

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5 July 2017

page(s)

1211-1220

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Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Identification of point mutations in 41 unrelated patients affected with Menkes disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Biochemical characterization and intracellular localization of the Menkes disease protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Molecular genetics and pathophysiology of Menkes disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Molecular structure of the Menkes disease gene (ATP7A)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

A delicate balance: homeostatic control of copper uptake and distribution

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Quantitative PCR: the determination of template copy numbers by temperature gradient gel electrophoresis (TGGE)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Copper transport and its alterations in Menkes and Wilson diseases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

A Golgi localization signal identified in the Menkes recombinant protein

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Quantitative PCR with internal controls

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

The LightCycler: a microvolume multisample fluorimeter with rapid temperature control.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Expression of mRNAs for Lysyl Oxidase and Type III Procollagen in Cultured Fibroblasts from Patients with the Menkes and Occipital Horn Syndromes as Determined by Quantitative Polymerase Chain Reaction

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288188

Early copper-histidine treatment for Menkes disease

29 November 2018

1 reference

12 December 2020

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature

1 reference

12 December 2020

Clinical manifestations and treatment of Menkes disease and its variants

1 reference

12 December 2020

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

12 December 2020

Standardization of mRNA titration using a polymerase chain reaction method involving co-amplification with a multispecific internal control

1 reference

12 December 2020

1 reference

12 December 2020

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

1 reference

12 December 2020

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

1 reference

12 December 2020

In Vitro Recombination and Mutagenesis of DNA : SOEing Together Tailor-Made Genes

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302857

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302857

1 reference

5 July 2017

1 reference

5 July 2017

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