Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA - Wikidata - wikimedia - TriplyDB

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

http://www.wikidata.org/entity/Q36976334

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Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Further 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 deafness Etiology 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 genotypes Hypertension-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 aqueduct Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations The genetic bases for non-syndromic hearing loss among Chinese Mutation 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 pendrin Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.Pendrin function and regulation in Xenopus oocytes Identification 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.

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

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Proceedings of the National Academy of Sciences of the United States of America

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Functional assessment of allel ...... syndrome and nonsyndromic EVA

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Alejandra Pera

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Charity Nofziger

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Concepción Hernández-Chico

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Felipe Moreno

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Giuliano Meyer

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Guido Bottà

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Markus Paulmichl

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Marta Gandía

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Silvia Dossena

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Simona Rodighiero

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

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

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

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

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation

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

The SLC26 gene family of multifunctional anion exchangers

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange

Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

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