Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

Human Mutation

Volumn 34, Issue 2, 2013, Pages 309-316

  Choi, Byung Yoon ^a,b   Kim, Do Hwan ^a   Chung, Taesu ^c   Chang, Mi ^a   Kim, Eun Hye ^a   Kim, Ah Reum ^a   Seok, Jungirl ^a   Chang, Sun O ^a   Bok, Jinwoong ^d   Kim, Dongsup ^c   Oh, Seung Ha ^a   Park, Woong Yang ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

Frameshift mutation; Nonsyndromic hearing loss; POU3F4; Proteasome; Subcellular localization

Indexed keywords

POU DOMAIN CLASS 3 TRANSCRIPTION FACTOR 4; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL NUCLEUS; CHILD; CONTROLLED STUDY; CYTOPLASM; FRAMESHIFT TRUNCATION MUTATION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; GENE FREQUENCY; HEARING LOSS, SENSORINEURAL; HEK293 CELLS; HUMANS; LEUPEPTINS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR LOCALIZATION SIGNALS; PEDIGREE; PHENOTYPE; POU DOMAIN FACTORS; PROTEASOME INHIBITORS; PROTEIN CONFORMATION; TRANSCRIPTIONAL ACTIVATION;

EID: 84873078529     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22232     Document Type: Article

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