(Q45252113)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23958657%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome (English)

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7 March 2020

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18

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7 March 2020

author name string

Maria João Nabais Sá

1

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7 March 2020

Nathalie Fieremans

2

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7 March 2020

Arjan P M de Brouwer

3

1 reference

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7 March 2020

Rita Sousa

4

1 reference

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7 March 2020

Fernando Teixeira e Costa

5

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7 March 2020

Maria José Brito

6

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7 March 2020

Fernanda Carvalho

7

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7 March 2020

Márcia Rodrigues

8

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7 March 2020

Francisco Teixeira de Sousa

9

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7 March 2020

Joana Felgueiras

10

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7 March 2020

Fernando Neves

11

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7 March 2020

Adelino Carvalho

12

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7 March 2020

Umbelina Ramos

13

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7 March 2020

José Ramón Vizcaíno

14

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7 March 2020

Susana Alves

15

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7 March 2020

Filipa Carvalho

16

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7 March 2020

Guy Froyen

17

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7 March 2020

language of work or name

English

0 references

publication date

19 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23958657%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 March 2020

published in

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7 March 2020

volume

50

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7 March 2020

issue

11

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7 March 2020

page(s)

745-753

1 reference

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Alport syndrome--insights from basic and clinical research

7 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Glomerular pathology in Alport syndrome: a molecular perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

21 January 2018

Mammalian collagen IV

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Diffuse leiomyomatosis in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Esophageal leiomyoma in children: two case reports and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Phenotypic and genotypic features of Alport syndrome in Chinese children.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters

21 January 2018

1 reference

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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

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Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

21 January 2018

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Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Bifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

Alport syndrome with diffuse leiomyomatosis. When and when not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101670

10.1136/JMEDGENET-2013-101670

21 January 2018

Identifiers

DOI

1 reference

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7 March 2020

1 reference