Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants

• Published in: Human mutation Vol. 41; no. 1; pp. 316 - 331
• Main Authors: Wasano, Koichiro, Takahashi, Satoe, Rosenberg, Samuel K., Kojima, Takashi, Mutai, Hideki, Matsunaga, Tatsuo, Ogawa, Kaoru, Homma, Kazuaki
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.01.2020
• Subjects: Cell Line; Cell lines; Chloride-Bicarbonate Antiporters - genetics; Chloride-Bicarbonate Antiporters - metabolism; DFNB4; DNA sequencing; Doxycycline; Fluorescent Antibody Technique; Gene Expression; Genetic Association Studies - methods; Genetic diversity; Genetic Predisposition to Disease; Genetic Variation; Hearing loss; hereditary hearing loss; Humans; Immunohistochemistry; Inner ear; Models, Molecular; mRNA; Mutation, Missense; Pathogenicity; Pendred syndrome; pendrin; Protein Conformation; RNA Splicing; SLC26A4; Splicing; Structure-Activity Relationship; Sulfate Transporters - chemistry; Sulfate Transporters - genetics; Sulfate Transporters - metabolism; DFNB4; Pendred syndrome; SLC26A4; pendrin; hereditary hearing loss

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many disease‐associated genetic variants are rapidly identified in many genes from patient samples. However, the subsequent effort to experimentally validate and define their pathological roles is extremely slow. Consequentl...