Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree (Q34613369)

3 August 2017

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree (English)

1 reference

3 August 2017

Zhihong Wang

1

1 reference

3 August 2017

Aizhen Yan

2

1 reference

3 August 2017

Yuxiang Lin

3

1 reference

3 August 2017

Haihua Xie

4

1 reference

3 August 2017

Chunyan Zhou

5

1 reference

3 August 2017

Fenghua Lan

6

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 March 2013

1 reference

3 August 2017

1 reference

3 August 2017

8

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3 August 2017

3

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3 August 2017

e57977

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

start time

1 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

A skewed view of X chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585930

Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057977

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057977

X-inactivation patterns in carriers of X-linked myotubular myopathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057977

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469258

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469258

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23469258

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0057977

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference