|
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 |
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical analyses, PTA, thyroid scans by Tc99m, perchlorate discharge test and high-resolution CT scan of the temporal bone were carried out on the affected family members.
|
31187663 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we generated a knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation to mimic the most common mutation found in human.
|
31155292 |
2019 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The quadruplex-specific ligands TMPyP4 and PDS (Pyridostatin) can inhibit the interaction between G-quadruplexes and proteins.
|
30278241 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene.1 case (5%) remained unsolved.
|
30760291 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim was to investigate the progress of hearing loss over time in a cohort of pendred syndrome and non-syndromic enlarged vestibular aqueduct (PS/NSEVA) with one or two confirmed pathogenic variations in SLC26A4.
|
30741891 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendrin residues which are mutated in Pendred's syndrome are identical to those in the aligned position of NIS and AIT.
|
29772533 |
2018 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4).
|
29739340 |
2018 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin.
|
28052261 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations.
|
27090054 |
2017 |
|
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SLC26A4 gene mutations are associated with a broad phenotypic spectrum, including Pendred Syndrome and non-syndromic hearing loss with enlarged vestibular aqueduct (ns-EVA).
|
27771369 |
2017 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in the thyroid, as well as the controversy surrounding the relative physiological roles of pendrin and anoctamin.
|
28648509 |
2017 |
|
Pendred's syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
|
29196752 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Considering the presence of SLC26A4 mutations and thyroid function, we could identify three sub-groups of patients: group 1, non syndromic EVA (ns EVA, no SLC26A4 mutation and no thyroid dysfunction); group 2, EVA with DFNB4 (single SLC26A4 gene mutation and no thyroid dysfunction); group 3, EVA with Pendred Syndrome (two pathological mutation of SLC26A4 and thyromegaly with thyroid dysfunction).
|
28780189 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural HI (MIM: 600791).
|
27861301 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
|
28786104 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic causes of moderate to severe hearing loss point to modifiers.
|
27573290 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].
|
28604962 |
2017 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A plethora of human diseases are associated with mutations in the genes encoding human SLC26 transporters, including chondrodysplasias with varying severity in SLC26A2 (~50 mutations, 27 point mutations), congenital chloride-losing diarrhea in SLC26A3 (~70 mutations, 31 point mutations) and Pendred Syndrome or deafness autosomal recessive type 4 in SLC26A4 (~500 mutations, 203 point mutations).
|
28941661 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.
|
27240500 |
2016 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This "primate-specific" pattern may be related to the human-specific hearing loss phenotypes of channelopathy disorders, including the SLC26A4-related diseases Pendred syndrome/DFNB4.
|
27091614 |
2016 |