FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2054589544> ?p ?o ?g. }

• W2054589544 endingPage "e52640" @default.
• W2054589544 startingPage "e52640" @default.
• W2054589544 abstract "Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes. We previously demonstrated that a part of human CHD7 interacts with a part of human CHD8, another chromodomain helicase DNA binding protein presumably being involved in the pathogenesis of neurodevelopmental (NDD) and autism spectrum disorders (ASD). Because identification of novel CHD7 and CHD8 interacting partners will provide further insights into the pathogenesis of CHARGE syndrome and ASD/NDD, we searched for additional associated polypeptides using the method of stable isotope labeling by amino acids in cell culture (SILAC) in combination with mass spectrometry.The hitherto uncharacterized FAM124B (Family with sequence similarity 124B) was identified as a potential interaction partner of both CHD7 and CHD8. We confirmed the result by co-immunoprecipitation studies and showed a direct binding to the CHD8 part by direct yeast two hybrid experiments. Furthermore, we characterized FAM124B as a mainly nuclear localized protein with a widespread expression in embryonic and adult mouse tissues.Our results demonstrate that FAM124B is a potential interacting partner of a CHD7 and CHD8 containing complex. From the overlapping expression pattern between Chd7 and Fam124B at murine embryonic day E12.5 and the high expression of Fam124B in the developing mouse brain, we conclude that Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders." @default.
• W2054589544 created "2016-06-24" @default.
• W2054589544 creator A5008211835 @default.
• W2054589544 creator A5015273169 @default.
• W2054589544 creator A5034829404 @default.
• W2054589544 creator A5039204155 @default.
• W2054589544 creator A5058818338 @default.
• W2054589544 creator A5067543606 @default.
• W2054589544 creator A5087448880 @default.
• W2054589544 creator A5089006758 @default.
• W2054589544 date "2012-12-21" @default.
• W2054589544 modified "2023-10-17" @default.
• W2054589544 title "Identification and Characterization of FAM124B as a Novel Component of a CHD7 and CHD8 Containing Complex" @default.
• W2054589544 cites W1854099023 @default.
• W2054589544 cites W1964444099 @default.
• W2054589544 cites W1970848271 @default.
• W2054589544 cites W1984249881 @default.
• W2054589544 cites W1991366673 @default.
• W2054589544 cites W2008747810 @default.
• W2054589544 cites W2016606965 @default.
• W2054589544 cites W2024663595 @default.
• W2054589544 cites W2029375303 @default.
• W2054589544 cites W2034709147 @default.
• W2054589544 cites W2037162373 @default.
• W2054589544 cites W2045539393 @default.
• W2054589544 cites W2063767893 @default.
• W2054589544 cites W2092710299 @default.
• W2054589544 cites W2094799740 @default.
• W2054589544 cites W2104655319 @default.
• W2054589544 cites W2108575348 @default.
• W2054589544 cites W2114570499 @default.
• W2054589544 cites W2114905487 @default.
• W2054589544 cites W2116040812 @default.
• W2054589544 cites W2117456217 @default.
• W2054589544 cites W2119848173 @default.
• W2054589544 cites W2121484182 @default.
• W2054589544 cites W2122803804 @default.
• W2054589544 cites W2133332261 @default.
• W2054589544 cites W2140630253 @default.
• W2054589544 cites W2140946052 @default.
• W2054589544 cites W2146345525 @default.
• W2054589544 cites W2150666000 @default.
• W2054589544 cites W2158304082 @default.
• W2054589544 cites W2168870169 @default.
• W2054589544 cites W2169590130 @default.
• W2054589544 cites W2170792029 @default.
• W2054589544 doi "https://doi.org/10.1371/journal.pone.0052640" @default.
• W2054589544 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3528654" @default.
• W2054589544 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23285124" @default.
• W2054589544 hasPublicationYear "2012" @default.
• W2054589544 type Work @default.
• W2054589544 sameAs 2054589544 @default.
• W2054589544 citedByCount "19" @default.
• W2054589544 countsByYear W20545895442014 @default.
• W2054589544 countsByYear W20545895442015 @default.
• W2054589544 countsByYear W20545895442016 @default.
• W2054589544 countsByYear W20545895442017 @default.
• W2054589544 countsByYear W20545895442018 @default.
• W2054589544 countsByYear W20545895442020 @default.
• W2054589544 countsByYear W20545895442021 @default.
• W2054589544 countsByYear W20545895442022 @default.
• W2054589544 countsByYear W20545895442023 @default.
• W2054589544 crossrefType "journal-article" @default.
• W2054589544 hasAuthorship W2054589544A5008211835 @default.
• W2054589544 hasAuthorship W2054589544A5015273169 @default.
• W2054589544 hasAuthorship W2054589544A5034829404 @default.
• W2054589544 hasAuthorship W2054589544A5039204155 @default.
• W2054589544 hasAuthorship W2054589544A5058818338 @default.
• W2054589544 hasAuthorship W2054589544A5067543606 @default.
• W2054589544 hasAuthorship W2054589544A5087448880 @default.
• W2054589544 hasAuthorship W2054589544A5089006758 @default.
• W2054589544 hasBestOaLocation W20545895441 @default.
• W2054589544 hasConcept C104317684 @default.
• W2054589544 hasConcept C161223559 @default.
• W2054589544 hasConcept C179138559 @default.
• W2054589544 hasConcept C2781095467 @default.
• W2054589544 hasConcept C54355233 @default.
• W2054589544 hasConcept C67705224 @default.
• W2054589544 hasConcept C86803240 @default.
• W2054589544 hasConcept C95444343 @default.
• W2054589544 hasConcept C9760119 @default.
• W2054589544 hasConceptScore W2054589544C104317684 @default.
• W2054589544 hasConceptScore W2054589544C161223559 @default.
• W2054589544 hasConceptScore W2054589544C179138559 @default.
• W2054589544 hasConceptScore W2054589544C2781095467 @default.
• W2054589544 hasConceptScore W2054589544C54355233 @default.
• W2054589544 hasConceptScore W2054589544C67705224 @default.
• W2054589544 hasConceptScore W2054589544C86803240 @default.
• W2054589544 hasConceptScore W2054589544C95444343 @default.
• W2054589544 hasConceptScore W2054589544C9760119 @default.
• W2054589544 hasIssue "12" @default.
• W2054589544 hasLocation W20545895441 @default.
• W2054589544 hasLocation W20545895442 @default.
• W2054589544 hasLocation W20545895443 @default.
• W2054589544 hasLocation W20545895444 @default.
• W2054589544 hasLocation W20545895445 @default.
• W2054589544 hasLocation W20545895446 @default.
• W2054589544 hasLocation W20545895447 @default.

• next