Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. (Q34133166)

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

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25 October 2019

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

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25 October 2019

Alport syndrome

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Corinne Antignac

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25 October 2019

Georges Deschenes

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25 October 2019

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Knebelmann B

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Drouot L

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Gros F

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Hors-Cayla MC

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25 October 2019

Zhou J

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25 October 2019

Tryggvason K

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25 October 2019

Grünfeld JP

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25 October 2019

Broyer M

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1 March 1994

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25 October 2019

Journal of Clinical Investigation

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25 October 2019

93

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25 October 2019

1195-1207

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25 October 2019

3

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25 October 2019

Molecular genetics of Alport syndrome

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5 July 2018

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome

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5 July 2018

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

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5 July 2018

Genetic heterogeneity of Alport syndrome.

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5 July 2018

Mapping of Alport syndrome to the long arm of the X chromosome

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5 July 2018

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

1 reference

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5 July 2018

The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region

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5 July 2018

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

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5 July 2018

Genetics of classic Alport's syndrome

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5 July 2018

Human tissue distribution of novel basement membrane collagen

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5 July 2018

Illegitimate transcription: transcription of any gene in any cell type

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5 July 2018

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis

1 reference

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5 July 2018

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294071

5 July 2018

Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen

1 reference

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5 July 2018

Alport syndrome, basement membranes and collagen

1 reference

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5 July 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

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5 July 2018

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294071

5 July 2018

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

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5 July 2018

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

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5 July 2018

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

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5 July 2018

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

1 reference

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5 July 2018

Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product

1 reference

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5 July 2018

Alport syndrome: a genetic study of 31 families.

1 reference

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5 July 2018

Deletions of the COL4A5 gene in patients with Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294071

5 July 2018

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294071

5 July 2018

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

1 reference

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5 July 2018

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294071

5 July 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

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5 July 2018

Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome

1 reference

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12 December 2020

based on heuristic

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Localization of the Goodpasture epitope to a novel chain of basement membrane collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Basement membrane collagen in the kidney: regional localization of novel chains related to collagen IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/8132760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117073

1 reference

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25 October 2019

1 reference

Europe PubMed Central

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25 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8132760%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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