Alport syndrome with diffuse leiomyomatosis. When and when not? (Q42796255)

7 November 2017

0 references

Alport syndrome with diffuse leiomyomatosis. When and when not? (English)

1 reference

7 November 2017

1 reference

J H Miner

1

1 reference

PMC publication ID

1866617

7 November 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

The American Journal of Pathology

7 November 2017

1 reference

7 November 2017

154

1 reference

7 November 2017

6

1 reference

7 November 2017

1633-1635

1 reference

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

7 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

The clinical spectrum of type IV collagen mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Macromolecular organization of basement membranes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Supramolecular assembly of basement membranes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Molecular genetics of Alport syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Alport syndrome: from bedside to genome to bedside

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Molecular genetics of basement membranes: the paradigm of Alport syndrome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Samoyed hereditary glomerulopathy. Immunohistochemical staining of basement membranes of kidney for laminin, collagen type IV, fibronectin, and Goodpasture antigen, and correlation with electron microscopy of glomerular capillary basement membranes.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Goodpasture syndrome: molecular architecture and function of basement membrane antigen.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866617

Molecular genetics of hereditary nephritis

27 May 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Absence of alpha 6(IV) collagen in kidney and skin of X-linked Alport syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Abnormalities in the NC1 domain of collagen type IV in GBM in canine hereditary nephritis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965417-X

Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10362786

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10362786

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)65417-X

1 reference

7 November 2017

1 reference

PMC publication ID

1866617

7 November 2017

PubMed publication ID

10362786

1 reference

PMC publication ID

1866617