|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype.
|
19426954 |
2009 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two missense mutations in SLC26A4 gene: a molecular and functional study.
|
20128824 |
2010 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
|
16053392 |
2005 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
|
19287372 |
2009 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.
|
9398842 |
1997 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
|
18274916 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
|
17718863 |
2007 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome.
|
24007330 |
2014 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
|
25991456 |
2015 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4.
|
9039988 |
1997 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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.
|
15689455 |
2005 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
|
8630497 |
1996 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Subjects with biallelic GJB2 mutations were tested for mutations in the SLC26A4 gene to rule out Pendred syndrome as a confounding cause of large vestibular aqueduct syndrome.
|
17146393 |
2006 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Because V138F was found in the German patients with Pendred's syndrome on at least one allele, we genotyped five microsatellite markers located in the PDS region.
|
12788906 |
2003 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly.
|
14679580 |
2004 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
|
26752218 |
2016 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).
|
20597900 |
2010 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The number of SLC26A4 mutations is associated with severity and variability of inner ear morphology and hearing level in individuals with PS or NSEVA.
|
31633822 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of mRNAs from thyroglobulin (Tg), TSH receptor (TSHR), thyroid peroxidase (TPO), sodium/iodide symporter (NIS), and the Pendred's syndrome (PDS) genes were analyzed by quantitative reverse transcription-polymerase chain reaction.
|
18187871 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
|
16950989 |
2006 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |