Matches in SemOpenAlex for { <https://semopenalex.org/work/W2571421343> ?p ?o ?g. }
- W2571421343 endingPage "81" @default.
- W2571421343 startingPage "68" @default.
- W2571421343 abstract "Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin. Loss of pendrin function as an anion exchanger is thought to be causative, but rodent models do not exhibit progressive deafness. Here, we report a degenerative phenotype exhibiting mutant pendrin aggregates and increased susceptibility to cellular stresses in cochlear epithelial cells induced from patient-derived induced pluripotent stem cells (iPSCs). These degenerative phenotypes were rescued by site-specific gene corrections. Moreover, low-dose rapamycin and metformin reduced aggregation and cell death. Our results provide an unexpected, comprehensive understanding of deafness due to “degenerative cochlear disease” and may contribute to rational therapeutic development. This iPSC-based disease model provides an approach to the study of pathogenesis and therapeutic development for hereditary hearing loss." @default.
- W2571421343 created "2017-01-13" @default.
- W2571421343 creator A5003599781 @default.
- W2571421343 creator A5021148242 @default.
- W2571421343 creator A5035479034 @default.
- W2571421343 creator A5038787228 @default.
- W2571421343 creator A5043896212 @default.
- W2571421343 creator A5053230190 @default.
- W2571421343 creator A5054057203 @default.
- W2571421343 creator A5057565474 @default.
- W2571421343 creator A5062375772 @default.
- W2571421343 creator A5088573439 @default.
- W2571421343 date "2017-01-01" @default.
- W2571421343 modified "2023-10-12" @default.
- W2571421343 title "Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss" @default.
- W2571421343 cites W136579595 @default.
- W2571421343 cites W1480384350 @default.
- W2571421343 cites W1497938915 @default.
- W2571421343 cites W1520995874 @default.
- W2571421343 cites W1530986975 @default.
- W2571421343 cites W1574196259 @default.
- W2571421343 cites W1602568023 @default.
- W2571421343 cites W1960191261 @default.
- W2571421343 cites W1973610314 @default.
- W2571421343 cites W1975670010 @default.
- W2571421343 cites W1983545019 @default.
- W2571421343 cites W1983730664 @default.
- W2571421343 cites W1987334928 @default.
- W2571421343 cites W1990041423 @default.
- W2571421343 cites W1997200985 @default.
- W2571421343 cites W1998983519 @default.
- W2571421343 cites W2004902965 @default.
- W2571421343 cites W2005890268 @default.
- W2571421343 cites W2021941761 @default.
- W2571421343 cites W2023471002 @default.
- W2571421343 cites W2031025318 @default.
- W2571421343 cites W2035121417 @default.
- W2571421343 cites W2041838113 @default.
- W2571421343 cites W2043291430 @default.
- W2571421343 cites W2043464841 @default.
- W2571421343 cites W2051452646 @default.
- W2571421343 cites W2057764483 @default.
- W2571421343 cites W2058341087 @default.
- W2571421343 cites W2061948304 @default.
- W2571421343 cites W2065987736 @default.
- W2571421343 cites W2082476939 @default.
- W2571421343 cites W2086231230 @default.
- W2571421343 cites W2086943348 @default.
- W2571421343 cites W2099313405 @default.
- W2571421343 cites W2101617815 @default.
- W2571421343 cites W2115603949 @default.
- W2571421343 cites W2129171086 @default.
- W2571421343 cites W2129957043 @default.
- W2571421343 cites W2131321387 @default.
- W2571421343 cites W2133503589 @default.
- W2571421343 cites W2138574694 @default.
- W2571421343 cites W2138977668 @default.
- W2571421343 cites W2148872965 @default.
- W2571421343 cites W2149364340 @default.
- W2571421343 cites W2164767899 @default.
- W2571421343 cites W2168550961 @default.
- W2571421343 cites W2313805571 @default.
- W2571421343 cites W2341799701 @default.
- W2571421343 cites W2344575936 @default.
- W2571421343 cites W2365931658 @default.
- W2571421343 cites W2440396995 @default.
- W2571421343 doi "https://doi.org/10.1016/j.celrep.2016.12.020" @default.
- W2571421343 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28052261" @default.
- W2571421343 hasPublicationYear "2017" @default.
- W2571421343 type Work @default.
- W2571421343 sameAs 2571421343 @default.
- W2571421343 citedByCount "56" @default.
- W2571421343 countsByYear W25714213432017 @default.
- W2571421343 countsByYear W25714213432018 @default.
- W2571421343 countsByYear W25714213432019 @default.
- W2571421343 countsByYear W25714213432020 @default.
- W2571421343 countsByYear W25714213432021 @default.
- W2571421343 countsByYear W25714213432022 @default.
- W2571421343 countsByYear W25714213432023 @default.
- W2571421343 crossrefType "journal-article" @default.
- W2571421343 hasAuthorship W2571421343A5003599781 @default.
- W2571421343 hasAuthorship W2571421343A5021148242 @default.
- W2571421343 hasAuthorship W2571421343A5035479034 @default.
- W2571421343 hasAuthorship W2571421343A5038787228 @default.
- W2571421343 hasAuthorship W2571421343A5043896212 @default.
- W2571421343 hasAuthorship W2571421343A5053230190 @default.
- W2571421343 hasAuthorship W2571421343A5054057203 @default.
- W2571421343 hasAuthorship W2571421343A5057565474 @default.
- W2571421343 hasAuthorship W2571421343A5062375772 @default.
- W2571421343 hasAuthorship W2571421343A5088573439 @default.
- W2571421343 hasBestOaLocation W25714213431 @default.
- W2571421343 hasConcept C104317684 @default.
- W2571421343 hasConcept C105951970 @default.
- W2571421343 hasConcept C107459253 @default.
- W2571421343 hasConcept C127716648 @default.
- W2571421343 hasConcept C142724271 @default.
- W2571421343 hasConcept C145103041 @default.
- W2571421343 hasConcept C149011108 @default.