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The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
scientific article published on 01 October 2009
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
title
The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
author
Richard J Smith
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
author name string
Tao Yang
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
publication date
1 October 2009
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
volume
30
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
issue
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
page(s)
1469-70; author reply 1471
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
cites work
Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High-resolution mapping and characterization of open chromatin across the genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A restrictive element 1 (RE-1) in the VIP gene modulates transcription in neuronal and non-neuronal cells in collaboration with an upstream tissue specifier element
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of estrogen receptor alpha gene mediated by promoter B responsible for its enhanced expressionin human breast cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cell-specific expression of the human gastrin gene: evidence for a control element located downstream of the TATA box
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21097
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.21097
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
PubMed publication ID
19787632
1 reference
stated in
Europe PubMed Central
PubMed publication ID
19787632
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19787632%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 February 2020
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