X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome (Q33988983)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

X-linked Alport syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Stefan M Kren

2

1 reference

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11 February 2020

Hector A Mesa

6

1 reference

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11 February 2020

4

Melanie Wall

1 reference

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11 February 2020

author name string

Linda A Hartich

3

1 reference

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11 February 2020

William Thomas

5

1 reference

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11 February 2020

Philip Avner

7

1 reference

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11 February 2020

George E Lees

8

1 reference

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11 February 2020

Clifford E Kashtan

9

1 reference

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11 February 2020

Yoav Segal

10

1 reference

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11 February 2020

language of work or name

English

0 references

publication date

23 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

Nephrology Dialysis Transplantation

11 February 2020

published in

1 reference

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11 February 2020

volume

25

1 reference

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11 February 2020

issue

3

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11 February 2020

page(s)

764-769

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No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

FAMILIAL ASPECTS OF DIFFUSE RENAL DISEASES.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Escape from X inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Coordinate gene expression of the alpha3, alpha4, and alpha5 chains of collagen type IV. Evidence from a canine model of X-linked nephritis with a COL4A5 gene mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Xce haplotypes show modified methylation in a region of the active X chromosome lying 3' to Xist

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Renal prognosis in women with hereditary nephritis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Renal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Loss of alpha3/alpha4(IV) collagen from the glomerular basement membrane induces a strain-dependent isoform switch to alpha5alpha6(IV) collagen associated with longer renal survival in Col4a3-/- Alport mice.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Mouse model of X-linked Alport syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Non-random X chromosome inactivation in mammalian cells.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2902925

Evidence of non-random X chromosome activity in the mouse

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19854849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Controlling elements in the mouse: IV. Evidence of non-randomX-inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19854849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NDT/GFP551

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854849%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference