X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria (Q35883346)

10 August 2017

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria (English)

1 reference

10 August 2017

Valentina Brancaleoni

1

1 reference

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31 May 2020

Francesca Granata

3

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31 May 2020

Giovanna Graziadei

4

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31 May 2020

Silvia Fustinoni

7

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Maria Domenica Cappellini

31 May 2020

8

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31 May 2020

Elena Di Pierro

11

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31 May 2020

author name string

M Balwani

2

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31 May 2020

P Missineo

5

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31 May 2020

V Fiorentino

6

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31 May 2020

H Naik

9

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31 May 2020

R J Desnick

10

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31 May 2020

publication date

23 January 2015

1 reference

10 August 2017

1 reference

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31 May 2020

volume

89

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31 May 2020

issue

1

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31 May 2020

page(s)

20-26

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X-linked dominant protoporphyria: a new porphyria

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Chromosome silencing mechanisms in X-chromosome inactivation: unknown unknowns.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

X chromosome inactivation in clinical practice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

X-inactivation profile reveals extensive variability in X-linked gene expression in females

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Recent advances in X-chromosome inactivation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Gene action in the X-chromosome of the mouse (Mus musculus L.)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Simultaneous quantification of erythrocyte zinc protoporphyrin and protoporphyrin IX by liquid chromatography

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Methylation status of CpG-rich islands on active and inactive mouse X chromosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Quantity and quality assessment of DNA extracted from saliva and blood.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4512933

Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient

24 September 2018

1 reference

12 December 2020

A plasma porphyrin fluorescence marker for variegate porphyria

1 reference

12 December 2020

The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression

1 reference

12 December 2020

Burst-forming units-erythroid from erythropoietic protoporphyria patients fluoresce under 405 nm light

1 reference

12 December 2020

Accumulation of porphyrins in plasma and tissues of dogs after delta-aminolevulinic acid administration: implications for photodynamic therapy

1 reference

12 December 2020

Flow cytometric analysis of fluorocytes in patients with erythropoietic porphyria

1 reference

12 December 2020

A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria

1 reference

12 December 2020

Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1111/CGE.12562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615817%20AND%20SRC:MED&resulttype=core&format=json

release_gxyoekhzaffxtjxkjcwrptfu6i

31 May 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gxyoekhzaffxtjxkjcwrptfu6i

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615817%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference