Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption (Q35642498)

9 August 2017

Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption (English)

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9 August 2017

David S Hains

7

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Kim L. McBride

object named as

Kim L McBride

5

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Dorin-Bogdan Borza

object named as

Dorin-Bogdan Borza

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author name string

Brian Becknell

1

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9 August 2017

Gloria A Zender

2

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9 August 2017

Ronald Houston

3

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9 August 2017

Peter B Baker

4

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9 August 2017

Wentian Luo

6

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9 August 2017

Andrew L Schwaderer

9

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9 August 2017

language of work or name

English

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publication date

29 September 2010

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9 August 2017

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9 August 2017

79

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9 August 2017

1

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9 August 2017

120-127

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https://scigraph.springernature.com/pub.10.1038/ki.2010.354

9 August 2017

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cites work

Genotype-phenotype correlation in X-linked Alport syndrome

1 reference

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The renal lesions of Alport syndrome

27 July 2018

1 reference

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Identification of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen: implications for Alport gene therapy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Endogenous human microRNAs that suppress breast cancer metastasis

27 July 2018

1 reference

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Inherited diseases of the glomerular basement membrane

27 July 2018

1 reference

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Pattern of double glomerulopathy in children

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Conformational features of a natural break in the type IV collagen Gly-X-Y repeat

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

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

27 July 2018

1 reference

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Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

27 July 2018

1 reference

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Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

27 July 2018

1 reference

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Structure and biological activity of basement membrane proteins

27 July 2018

1 reference

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

27 July 2018

1 reference

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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

27 July 2018

1 reference

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Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

27 July 2018

1 reference

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

25 September 2018

1 reference

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Making the diagnosis of Alport's syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3248803

Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds

25 September 2018

1 reference

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Localization of flexible sites in thread-like molecules from electron micrographs. Comparison of interstitial, basement membrane and intima collagens.

25 September 2018

1 reference

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A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype

25 September 2018

1 reference

12 December 2020

NMR shows hydrophobic interactions replace glycine packing in the triple helix at a natural break in the (Gly-X-Y)n repeat

1 reference

12 December 2020

Type IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains

1 reference

12 December 2020

The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family

1 reference

12 December 2020

Hereditary nephropathy with nerve deafness (Alport's syndrome). Electron microscopic studies on the renal glomerulus

1 reference

12 December 2020

Alport syndrome with type I membranoproliferative glomerulonephritis

1 reference

12 December 2020

Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis

1 reference

12 December 2020

A peptide model of basement membrane collagen alpha 1 (IV) 531-543 binds the alpha 3 beta 1 integrin

1 reference

12 December 2020

Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome

1 reference

12 December 2020

Hereditary nephritis mimicking immune complex-mediated glomerulonephritis

1 reference

12 December 2020

Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2010.354

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference