COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. (Q37340191)

From Wikidata

Jump to navigation Jump to search

scientific article published on 19 September 2013

edit

Language	Label	Description	Also known as
English	COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.	scientific article published on 19 September 2013

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

title

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

main subject

Alport syndrome

1 reference

based on heuristic

inferred from title

author

Helen Storey

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

Judy Savige

series ordinal

2

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

author name string

Vanessa Sivakumar

series ordinal

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

Stephen Abbs

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

Frances A Flinter

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

publication date

19 September 2013

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

published in

Journal of the American Society of Nephrology

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

volume

24

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

issue

12

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

page(s)

1945-1954

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

cites work

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Clinical utility gene card for: Alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

LOVD v.2.0: the next generation in gene variant databases

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

The value of clinical criteria in identifying patients with X-linked Alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Identification of the NC1 domain of {alpha}3 chain as critical for {alpha}3{alpha}4{alpha}5 type IV collagen network assembly

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Genetics of classic Alport's syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

Structure and biological activity of basement membrane proteins

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

6 September 2017

A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

26 June 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

26 June 2018

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Novel corneal phenotype in a patient with alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Mutations in the COL4A4 gene in thin basement membrane disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

2 September 2018

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3839543

retrieved

3 December 2018

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-Linked Alport syndrome with Normal Distribution of Collagen IV α Chains in Epidermal Basement Membrane

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24052634

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1681/ASN.2012100985

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

PMC publication ID

3839543

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

PubMed publication ID

24052634

1 reference

stated in

Europe PubMed Central

PMC publication ID

3839543

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24052634%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 February 2020

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37340191&oldid=2125063050"