(Q34996588)

5 August 2017

title

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease (English)

1 reference

5 August 2017

V Desai

1

1 reference

5 August 2017

A Donsante

2

1 reference

5 August 2017

K J Swoboda

3

1 reference

5 August 2017

M Martensen

4

1 reference

5 August 2017

J Thompson

5

1 reference

5 August 2017

S G Kaler

6

1 reference

5 August 2017

publication date

1 February 2011

1 reference

5 August 2017

1 reference

5 August 2017

volume

79

1 reference

5 August 2017

issue

2

1 reference

5 August 2017

page(s)

176-182

1 reference

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

X chromosome inactivation in clinical practice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Neonatal diagnosis and treatment of Menkes disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Internal jugular phlebectasia in Menkes disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Functional copper transport explains neurologic sparing in occipital horn syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Random X-chromosome inactivation: skewing lessons for mice and men.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

NMDA receptor activation mediates copper homeostasis in hippocampal neurons

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Age-associated activation of epigenetically repressed genes in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Skewed X inactivation in X-linked disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

X-chromosome inactivation in mammals

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Menkes kinky hair syndrome in a black infant.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Ectodermal manifestations in Menkes disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Downregulation of myelination, energy, and translational genes in Menkes disease brain

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Non-random X chromosome inactivation in mammalian cells.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3099248

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

26 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Coordinate control and variation in X-linked gene expression among female mice

1 reference

12 December 2020

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency

1 reference

12 December 2020

Menkes disease: underlying genetic defect and new diagnostic possibilities

1 reference

12 December 2020

Brachial artery aneurysms in Menkes disease

1 reference

12 December 2020

10.1111/J.1399-0004.2010.01451.X

Identifiers

DOI

1 reference

5 August 2017

1 reference

5 August 2017

1 reference