|
rs111033307
|
|
|
0.820 |
GeneticVariation |
BEFREE |
This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W.
|
18285825 |
2008 |
|
rs111033307
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A single Pendred syndrome (PDS) gene mutation, L445W, was found.
|
20822748 |
2010 |
|
rs121908362
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
|
17322586 |
2006 |
|
rs121908362
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs111033199
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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 |
|
rs111033256
|
|
|
0.810 |
GeneticVariation |
BEFREE |
As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.
|
19287372 |
2009 |
|
rs111033257
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs111033348
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
|
rs121908363
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs28939086
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
rs80338848
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Together, these data demonstrate that the L236P mouse phenotype is more similar to the human phenotype and should be used as a tool for further research into the human Pendred syndrome.
|
31155292 |
2019 |
|
rs121908361
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs370588279
|
|
|
0.710 |
GeneticVariation |
BEFREE |
As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.
|
19287372 |
2009 |
|
rs768471577
|
|
|
0.710 |
GeneticVariation |
BEFREE |
As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.
|
19287372 |
2009 |
|
rs111033243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.F354S variant is already described to be involved in PS or NSHL inheritances.
|
21045265 |
2010 |
|
rs111033405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
|
rs1130183
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy.
|
23965030 |
2013 |
|
rs121908364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs201562855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs760413427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs984967571
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Two missense mutations in SLC26A4 gene: a molecular and functional study.
|
20128824 |
2010 |
|
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |