Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

► Genetic/functional analyzes of SLC26A4, FOXI1-DBD, FOXI1, and KCNJ10 in syndromic and non-syndromic deafness. ► SLC26A4 is the most frequently mutated gene in Pendred syndrome. ► Development of a more sensitive fluorometric functional assay for SLC26A4 mutations. ► Novel missense variant was found...

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Veröffentlicht in:	Molecular and cellular endocrinology 2012-04, Vol.351 (2), p.342-350
Hauptverfasser:	Cirello, Valentina, Bazzini, Claudia, Vezzoli, Valeria, Muzza, Marina, Rodighiero, Simona, Castorina, Pierangela, Maffini, Antonia, Bottà, Guido, Persani, Luca, Beck-Peccoz, Paolo, Meyer, Giuliano, Fugazzola, Laura
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alleles Animals Cell Line Cercopithecus aethiops Channels Child Child, Preschool COS Cells Deafness EVA Female fluorometry Forkhead Transcription Factors - genetics Forkhead Transcription Factors - metabolism FOXI1 Genes Genetic Variation Genetics Genotype Goiter, Nodular - genetics Hearing Loss, Sensorineural - genetics Humans immunocytochemistry Infant KCNJ10 Loci Male Membrane Transport Proteins - genetics Middle Aged Mutation Mutations Patients Pendred phenotype Polystyrene resins potassium channels Potassium Channels, Inwardly Rectifying - genetics SLC26A4 transcription factors Transcriptional Activation Young Adult
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