(Q50453163)

English

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.

scientific article published on 20 February 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

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. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

1 reference

based on heuristic

inferred from title

mutational analysis

1 reference

based on heuristic

inferred from title

Pendred syndrome

1 reference

based on heuristic

inferred from title

Manuela Villamar

object named as

Manuela Villamar

2

0 references

object named as

Alejandra Pera

1

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author name string

Antonio Viñuela

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

Marta Gandía

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

Carme Medà

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

Felipe Moreno

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

Concepción Hernández-Chico

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

publication date

20 February 2008

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

16

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

888-896

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.30

0 references

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Two frequent missense mutations in Pendred syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Genotype-phenotype correlations for SLC26A4-related deafness.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

21 January 2018

Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.30

7 January 2021

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Identifiers

10.1038/EJHG.2008.30

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/18285825

ResearchGate publication ID

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