FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2103756619> ?p ?o ?g. }

• W2103756619 endingPage "2115" @default.
• W2103756619 startingPage "2103" @default.
• W2103756619 abstract "Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. MECP2 is an X-linked gene subject to random X-chromosome inactivation resulting in mosaic expression of mutant MECP2. The lack of human brain tissue motivates the need for alternative human cellular models to study RTT. Here we report the characterization of a MECP2 mutation in a classic female RTT patient involving rearrangements that remove exons 3 and 4 creating a functionally null mutation. To generate human neuron models of RTT, we isolated human induced pluripotent stem (hiPS) cells from RTT patient fibroblasts. RTT-hiPS cells retained the MECP2 mutation, are pluripotent and fully reprogrammed, and retained an inactive X-chromosome in a nonrandom pattern. Taking advantage of the latter characteristic, we obtained a pair of isogenic wild-type and mutant MECP2 expressing RTT-hiPS cell lines that retained this MECP2 expression pattern upon differentiation into neurons. Phenotypic analysis of mutant RTT-hiPS cell-derived neurons demonstrated a reduction in soma size compared with the isogenic control RTT-hiPS cell-derived neurons from the same RTT patient. Analysis of isogenic control and mutant hiPS cell-derived neurons represents a promising source for understanding the pathogenesis of RTT and the role of MECP2 in human neurons." @default.
• W2103756619 created "2016-06-24" @default.
• W2103756619 creator A5010856222 @default.
• W2103756619 creator A5023207381 @default.
• W2103756619 creator A5032358482 @default.
• W2103756619 creator A5034258131 @default.
• W2103756619 creator A5036444068 @default.
• W2103756619 creator A5054098582 @default.
• W2103756619 creator A5086070874 @default.
• W2103756619 creator A5087787414 @default.
• W2103756619 date "2011-03-03" @default.
• W2103756619 modified "2023-10-12" @default.
• W2103756619 title "Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation" @default.
• W2103756619 cites W1488115555 @default.
• W2103756619 cites W1559742681 @default.
• W2103756619 cites W1784857457 @default.
• W2103756619 cites W1972766500 @default.
• W2103756619 cites W1975410158 @default.
• W2103756619 cites W1989140262 @default.
• W2103756619 cites W1992603073 @default.
• W2103756619 cites W1994029368 @default.
• W2103756619 cites W1995470989 @default.
• W2103756619 cites W2000313340 @default.
• W2103756619 cites W2002179012 @default.
• W2103756619 cites W2015353463 @default.
• W2103756619 cites W2016961314 @default.
• W2103756619 cites W2023195681 @default.
• W2103756619 cites W2027173744 @default.
• W2103756619 cites W2028024624 @default.
• W2103756619 cites W2032474463 @default.
• W2103756619 cites W2033609439 @default.
• W2103756619 cites W2037573370 @default.
• W2103756619 cites W2039276157 @default.
• W2103756619 cites W2039551265 @default.
• W2103756619 cites W2041209899 @default.
• W2103756619 cites W2049128446 @default.
• W2103756619 cites W2052860512 @default.
• W2103756619 cites W2061536881 @default.
• W2103756619 cites W2063840478 @default.
• W2103756619 cites W2064037605 @default.
• W2103756619 cites W2070276978 @default.
• W2103756619 cites W2076194888 @default.
• W2103756619 cites W2079870118 @default.
• W2103756619 cites W2081178560 @default.
• W2103756619 cites W2090051505 @default.
• W2103756619 cites W2090571054 @default.
• W2103756619 cites W2103419911 @default.
• W2103756619 cites W2104996733 @default.
• W2103756619 cites W2109615936 @default.
• W2103756619 cites W2114033955 @default.
• W2103756619 cites W2115644752 @default.
• W2103756619 cites W2121262376 @default.
• W2103756619 cites W2126774748 @default.
• W2103756619 cites W2127311839 @default.
• W2103756619 cites W2128353741 @default.
• W2103756619 cites W2128647021 @default.
• W2103756619 cites W2129534676 @default.
• W2103756619 cites W2129654526 @default.
• W2103756619 cites W2132405795 @default.
• W2103756619 cites W2135568632 @default.
• W2103756619 cites W2137081741 @default.
• W2103756619 cites W2138977668 @default.
• W2103756619 cites W2142046859 @default.
• W2103756619 cites W2143747124 @default.
• W2103756619 cites W2145492799 @default.
• W2103756619 cites W2146258577 @default.
• W2103756619 cites W2152668149 @default.
• W2103756619 cites W2155452725 @default.
• W2103756619 cites W2155734183 @default.
• W2103756619 cites W2157645703 @default.
• W2103756619 cites W2161403252 @default.
• W2103756619 cites W2171591151 @default.
• W2103756619 cites W2397166584 @default.
• W2103756619 doi "https://doi.org/10.1093/hmg/ddr093" @default.
• W2103756619 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3090191" @default.
• W2103756619 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21372149" @default.
• W2103756619 hasPublicationYear "2011" @default.
• W2103756619 type Work @default.
• W2103756619 sameAs 2103756619 @default.
• W2103756619 citedByCount "233" @default.
• W2103756619 countsByYear W21037566192012 @default.
• W2103756619 countsByYear W21037566192013 @default.
• W2103756619 countsByYear W21037566192014 @default.
• W2103756619 countsByYear W21037566192015 @default.
• W2103756619 countsByYear W21037566192016 @default.
• W2103756619 countsByYear W21037566192017 @default.
• W2103756619 countsByYear W21037566192018 @default.
• W2103756619 countsByYear W21037566192019 @default.
• W2103756619 countsByYear W21037566192020 @default.
• W2103756619 countsByYear W21037566192021 @default.
• W2103756619 countsByYear W21037566192022 @default.
• W2103756619 countsByYear W21037566192023 @default.
• W2103756619 crossrefType "journal-article" @default.
• W2103756619 hasAuthorship W2103756619A5010856222 @default.
• W2103756619 hasAuthorship W2103756619A5023207381 @default.
• W2103756619 hasAuthorship W2103756619A5032358482 @default.
• W2103756619 hasAuthorship W2103756619A5034258131 @default.
• W2103756619 hasAuthorship W2103756619A5036444068 @default.

• next