Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
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Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cellsMolecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in ChinaFurther characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.Integration of human and mouse genetics reveals pendrin function in hearing and deafnessEtiology and audiological outcomes at 3 years for 364 children in Australia.Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypesHypertension-linked mutation of α-adducin increases CFTR surface expression and activity in HEK and cultured rat distal convoluted tubule cells.Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueductProbing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics SimulationsThe genetic bases for non-syndromic hearing loss among ChineseMutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Analysis of cellular localization and function of carboxy-terminal mutants of pendrinFunctional characterization of pendrin mutations found in the Israeli and Palestinian populations.Pendrin function and regulation in Xenopus oocytesIdentification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.Mis-trafficking of bicarbonate transporters: implications to human diseases.The cyanobacterial bicarbonate transporter BicA: its physiological role and the implications of structural similarities with human SLC26 transporters.Molecular and functional characterization of human pendrin and its allelic variants.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.Topology mapping to characterize cyanobacterial bicarbonate transporters: BicA (SulP/SLC26 family) and SbtA.Screening of SLC26A4 gene in autoimmune thyroid diseases.STAT6 links IL-4/IL-13 stimulation with pendrin expression in asthma and chronic obstructive pulmonary disease.Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.
P2860
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P2860
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Functional assessment of allel ...... syndrome and nonsyndromic EVA
@en
type
label
Functional assessment of allel ...... syndrome and nonsyndromic EVA
@en
prefLabel
Functional assessment of allel ...... syndrome and nonsyndromic EVA
@en
P2093
P2860
P50
P356
P1476
Functional assessment of allel ...... syndrome and nonsyndromic EVA
@en
P2093
Alejandra Pera
Charity Nofziger
Concepción Hernández-Chico
Felipe Moreno
Giuliano Meyer
Guido Bottà
Markus Paulmichl
Marta Gandía
Silvia Dossena
Simona Rodighiero
P2860
P304
18608-18613
P356
10.1073/PNAS.0805831105
P407
P577
2008-11-18T00:00:00Z