FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013283996> ?p ?o ?g. }

• W2013283996 endingPage "304" @default.
• W2013283996 startingPage "297" @default.
• W2013283996 abstract "The homoplasmic mitochondrial A1555G mutation in the 12S rRNA gene leads to a mitochondrial translation disorder associated with deafness. The absence of disease in non-cochlear tissues in all patients, and in the cochlea in some patients, is not well understood. We used a system-based approach, including whole genome expression and biological function analysis, to elucidate the pathways underlying tissue specificity and clinical severity of this condition. Levels of over 48K RNA transcripts from EBV-transformed lymphoblasts of deaf and hearing individuals with the A1555G mutation and controls were obtained. Differentially expressed transcripts were functionally grouped using gene set enrichment analysis. Over 50 RNA binding proteins were differentially expressed between deaf and hearing individuals with the A1555G mutation (P-value of 2.56E-7), confirming previous genetic data implicating this pathway in the determination of the severity of hearing loss. Unexpectedly, the majority of cytoplasmic ribosomal genes were up-regulated in a coordinated fashion in individuals with the A1555G mutation versus controls (P-value of 3.91E-135). This finding was verified through real time RT-PCR, and through measuring of protein levels by flow cytometry. Analysis of expression levels of other differentially expressed genes suggests that this coordinated over-expression of cytoplasmic ribosomal proteins might occur through the Myc/Max pathway. We propose that expression levels of RNA binding proteins help determine the severity of the cochlear phenotype, and that coordinated up-regulation of the cytoplasmic translation apparatus operates as a compensation mechanism in unaffected tissues of patients with maternal deafness associated with the A1555G mutation." @default.
• W2013283996 created "2016-06-24" @default.
• W2013283996 creator A5040593360 @default.
• W2013283996 creator A5058632863 @default.
• W2013283996 creator A5059929396 @default.
• W2013283996 date "2009-08-01" @default.
• W2013283996 modified "2023-09-27" @default.
• W2013283996 title "Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins" @default.
• W2013283996 cites W1969130336 @default.
• W2013283996 cites W1972442166 @default.
• W2013283996 cites W1977776515 @default.
• W2013283996 cites W1989414326 @default.
• W2013283996 cites W2003206646 @default.
• W2013283996 cites W2007171283 @default.
• W2013283996 cites W2021674095 @default.
• W2013283996 cites W2026289475 @default.
• W2013283996 cites W2034452259 @default.
• W2013283996 cites W2036963968 @default.
• W2013283996 cites W2039171339 @default.
• W2013283996 cites W2041243503 @default.
• W2013283996 cites W2044704400 @default.
• W2013283996 cites W2047210179 @default.
• W2013283996 cites W2050051737 @default.
• W2013283996 cites W2053633780 @default.
• W2013283996 cites W2067885005 @default.
• W2013283996 cites W2069473693 @default.
• W2013283996 cites W2069539988 @default.
• W2013283996 cites W2069765215 @default.
• W2013283996 cites W2071491707 @default.
• W2013283996 cites W2073505231 @default.
• W2013283996 cites W2081906798 @default.
• W2013283996 cites W2094569431 @default.
• W2013283996 cites W2100632697 @default.
• W2013283996 cites W2103017472 @default.
• W2013283996 cites W2103697785 @default.
• W2013283996 cites W2109322309 @default.
• W2013283996 cites W2122683221 @default.
• W2013283996 cites W2123562244 @default.
• W2013283996 cites W2127938920 @default.
• W2013283996 cites W2129111957 @default.
• W2013283996 cites W2131293378 @default.
• W2013283996 cites W2139917614 @default.
• W2013283996 cites W2143601096 @default.
• W2013283996 cites W2149490130 @default.
• W2013283996 cites W2149702670 @default.
• W2013283996 cites W2152895940 @default.
• W2013283996 cites W2154716161 @default.
• W2013283996 cites W2164648147 @default.
• W2013283996 cites W2166664098 @default.
• W2013283996 cites W2169493549 @default.
• W2013283996 cites W2170076251 @default.
• W2013283996 cites W2316129306 @default.
• W2013283996 cites W2339646853 @default.
• W2013283996 cites W4236512674 @default.
• W2013283996 doi "https://doi.org/10.1016/j.ymgme.2009.05.003" @default.
• W2013283996 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2728627" @default.
• W2013283996 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19482502" @default.
• W2013283996 hasPublicationYear "2009" @default.
• W2013283996 type Work @default.
• W2013283996 sameAs 2013283996 @default.
• W2013283996 citedByCount "10" @default.
• W2013283996 countsByYear W20132839962014 @default.
• W2013283996 countsByYear W20132839962015 @default.
• W2013283996 countsByYear W20132839962016 @default.
• W2013283996 countsByYear W20132839962017 @default.
• W2013283996 countsByYear W20132839962018 @default.
• W2013283996 countsByYear W20132839962022 @default.
• W2013283996 countsByYear W20132839962023 @default.
• W2013283996 crossrefType "journal-article" @default.
• W2013283996 hasAuthorship W2013283996A5040593360 @default.
• W2013283996 hasAuthorship W2013283996A5058632863 @default.
• W2013283996 hasAuthorship W2013283996A5059929396 @default.
• W2013283996 hasBestOaLocation W20132839962 @default.
• W2013283996 hasConcept C104317684 @default.
• W2013283996 hasConcept C105580179 @default.
• W2013283996 hasConcept C127716648 @default.
• W2013283996 hasConcept C149364088 @default.
• W2013283996 hasConcept C150194340 @default.
• W2013283996 hasConcept C153911025 @default.
• W2013283996 hasConcept C38062823 @default.
• W2013283996 hasConcept C41282012 @default.
• W2013283996 hasConcept C501734568 @default.
• W2013283996 hasConcept C54355233 @default.
• W2013283996 hasConcept C67705224 @default.
• W2013283996 hasConcept C67905577 @default.
• W2013283996 hasConcept C86803240 @default.
• W2013283996 hasConcept C88478588 @default.
• W2013283996 hasConceptScore W2013283996C104317684 @default.
• W2013283996 hasConceptScore W2013283996C105580179 @default.
• W2013283996 hasConceptScore W2013283996C127716648 @default.
• W2013283996 hasConceptScore W2013283996C149364088 @default.
• W2013283996 hasConceptScore W2013283996C150194340 @default.
• W2013283996 hasConceptScore W2013283996C153911025 @default.
• W2013283996 hasConceptScore W2013283996C38062823 @default.
• W2013283996 hasConceptScore W2013283996C41282012 @default.
• W2013283996 hasConceptScore W2013283996C501734568 @default.
• W2013283996 hasConceptScore W2013283996C54355233 @default.
• W2013283996 hasConceptScore W2013283996C67705224 @default.

• next