Genetic cause of X-linked Alport syndrome in a family of domestic dogs. (Q48235468)

9 February 2018

title

Genetic cause of X-linked Alport syndrome in a family of domestic dogs. (English)

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9 February 2018

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X-linked Alport syndrome

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Melissa L Cox

1

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9 February 2018

George E Lees

series ordinal

2

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9 February 2018

Clifford E Kashtan

series ordinal

3

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9 February 2018

Keith E Murphy

series ordinal

4

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9 February 2018

publication date

1 June 2003

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9 February 2018

number of pages

8

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inferred from page(s)

published in

Mammalian Genome

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9 February 2018

volume

14

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9 February 2018

issue

6

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9 February 2018

page(s)

396-403

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/s00335-002-2253-9

exact match

0 references

cites work

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00335-002-2253-9

Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome

21 January 2018

1 reference

12 December 2020

Two novel alternatively spliced 9-bp exons in the COL4A5 gene

1 reference

12 December 2020

Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

New form of X-linked dominant hereditary nephritis in dogs

1 reference

12 December 2020

Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome.

1 reference

12 December 2020

Animal models of Alport syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV

1 reference

12 December 2020

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

1 reference

12 December 2020

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

1 reference

12 December 2020

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

1 reference

12 December 2020

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

12 December 2020

Role of distinct type IV collagen networks in glomerular development and function

1 reference

12 December 2020

Estimating prevalence in single-gene kidney diseases progressing to renal failure

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12 December 2020

Alport's syndrome in 78 patients: epidemiological and clinical study.

1 reference

12 December 2020

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

1 reference

12 December 2020

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

1 reference

12 December 2020

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

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

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome

1 reference

12 December 2020

Report on management of renal failure in children in Europe, XXIII, 1992

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12 December 2020

Renal basement membrane components

1 reference

12 December 2020

Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial renal disease in Samoyed dogs

1 reference

12 December 2020

Animal model of human disease: hereditary nephritis in Samoyed dogs.

1 reference

12 December 2020

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain

1 reference

12 December 2020

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis

1 reference

12 December 2020

Alport syndrome and thin glomerular basement membrane disease

1 reference

12 December 2020

A model of autosomal recessive Alport syndrome in English cocker spaniel dogs

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00335-002-2253-9

Identifiers

DOI

1 reference

9 February 2018

release_efq43fwy7zecnhsie4opxu4hle

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/efq43fwy7zecnhsie4opxu4hle

24 November 2022

mapped directly with Wikidata item

PubMed ID

12879362

1 reference

9 February 2018