FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2286358774> ?p ?o ?g. }

• W2286358774 endingPage "69" @default.
• W2286358774 startingPage "55" @default.
• W2286358774 abstract "Oculodentodigital dysplasia (ODDD) is primarily an autosomal dominant disorder linked to over 70 GJA1 gene [connexin43 (Cx43)] mutations. For nearly a decade, our laboratory has been investigating the relationship between Cx43 and ODDD by expressing disease-linked mutants in reference cells, tissue-relevant cell lines, 3D organ cultures and by using genetically modified mouse models of human disease. Although salient features of Cx43 mutants have been revealed, these models do not necessarily reflect the complexity of the human context. To further overcome these limitations, we have acquired dermal fibroblasts from two ODDD-affected individuals harbouring D3N and V216L mutations in Cx43, along with familial controls. Using these ODDD patient dermal fibroblasts, which naturally produce less GJA1 gene product, along with RNAi and RNA activation (RNAa) approaches, we show that manipulating Cx43 expression triggers cellular gene reprogramming. Quantitative RT-PCR, Western blot and immunofluorescent analysis of ODDD patient fibroblasts show unusually high levels of extracellular matrix (ECM)-interacting proteins, including integrin α5β1, matrix metalloproteinases as well as secreted ECM proteins collagen-I and laminin. Cx43 knockdown in familial control cells produces similar effects on ECM expression, whereas Cx43 transcriptional up-regulation using RNAa decreases production of collagen-I. Interestingly, the enhanced levels of ECM-associated proteins in ODDD V216L fibroblasts is not only a consequence of increased ECM gene expression, but also due to an apparent deficit in collagen-I secretion which may further contribute to impaired collagen gel contraction in ODDD fibroblasts. These findings further illuminate the altered function of Cx43 in ODDD-affected individuals and highlight the impact of manipulating Cx43 expression in human cells." @default.
• W2286358774 created "2016-06-24" @default.
• W2286358774 creator A5018396877 @default.
• W2286358774 creator A5024738169 @default.
• W2286358774 creator A5025060388 @default.
• W2286358774 creator A5068482936 @default.
• W2286358774 creator A5069728983 @default.
• W2286358774 creator A5071455681 @default.
• W2286358774 date "2015-10-30" @default.
• W2286358774 modified "2023-10-14" @default.
• W2286358774 title "Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients" @default.
• W2286358774 cites W1895730431 @default.
• W2286358774 cites W1920142430 @default.
• W2286358774 cites W1966819750 @default.
• W2286358774 cites W1968820680 @default.
• W2286358774 cites W1970618758 @default.
• W2286358774 cites W1972299038 @default.
• W2286358774 cites W1976081620 @default.
• W2286358774 cites W1977897374 @default.
• W2286358774 cites W1978494660 @default.
• W2286358774 cites W1984846033 @default.
• W2286358774 cites W1990376817 @default.
• W2286358774 cites W1990818234 @default.
• W2286358774 cites W1990837038 @default.
• W2286358774 cites W1991717581 @default.
• W2286358774 cites W1997189437 @default.
• W2286358774 cites W2000592117 @default.
• W2286358774 cites W2003617461 @default.
• W2286358774 cites W2008978409 @default.
• W2286358774 cites W2011315471 @default.
• W2286358774 cites W2012003576 @default.
• W2286358774 cites W2012025148 @default.
• W2286358774 cites W2014903264 @default.
• W2286358774 cites W2016892062 @default.
• W2286358774 cites W2017588225 @default.
• W2286358774 cites W2018964420 @default.
• W2286358774 cites W2019015469 @default.
• W2286358774 cites W2020696633 @default.
• W2286358774 cites W2027252278 @default.
• W2286358774 cites W2027426886 @default.
• W2286358774 cites W2035150988 @default.
• W2286358774 cites W2036657358 @default.
• W2286358774 cites W2038699015 @default.
• W2286358774 cites W2041134529 @default.
• W2286358774 cites W2050281252 @default.
• W2286358774 cites W2053147391 @default.
• W2286358774 cites W2056583620 @default.
• W2286358774 cites W2057908150 @default.
• W2286358774 cites W2059002457 @default.
• W2286358774 cites W2061441141 @default.
• W2286358774 cites W2065837488 @default.
• W2286358774 cites W2069466450 @default.
• W2286358774 cites W2069981715 @default.
• W2286358774 cites W2071873119 @default.
• W2286358774 cites W2079495429 @default.
• W2286358774 cites W2080825601 @default.
• W2286358774 cites W2084021563 @default.
• W2286358774 cites W2085115041 @default.
• W2286358774 cites W2089125941 @default.
• W2286358774 cites W2090516825 @default.
• W2286358774 cites W2091999237 @default.
• W2286358774 cites W2094513886 @default.
• W2286358774 cites W2096802482 @default.
• W2286358774 cites W2099406205 @default.
• W2286358774 cites W2103540952 @default.
• W2286358774 cites W2104329240 @default.
• W2286358774 cites W2105444747 @default.
• W2286358774 cites W2108083465 @default.
• W2286358774 cites W2110143346 @default.
• W2286358774 cites W2115673465 @default.
• W2286358774 cites W2115876074 @default.
• W2286358774 cites W2117231424 @default.
• W2286358774 cites W2123997968 @default.
• W2286358774 cites W2126539026 @default.
• W2286358774 cites W2136556762 @default.
• W2286358774 cites W2138213364 @default.
• W2286358774 cites W2138492071 @default.
• W2286358774 cites W2140018947 @default.
• W2286358774 cites W2143550767 @default.
• W2286358774 cites W2143584424 @default.
• W2286358774 cites W2144141792 @default.
• W2286358774 cites W2146247842 @default.
• W2286358774 cites W2146419323 @default.
• W2286358774 cites W2148431274 @default.
• W2286358774 cites W2149786172 @default.
• W2286358774 cites W2152625046 @default.
• W2286358774 cites W2166809896 @default.
• W2286358774 cites W2166889909 @default.
• W2286358774 cites W2172391604 @default.
• W2286358774 cites W2182398152 @default.
• W2286358774 cites W2331494604 @default.
• W2286358774 cites W2399215628 @default.
• W2286358774 cites W2505548596 @default.
• W2286358774 cites W27796146 @default.
• W2286358774 cites W2086830397 @default.
• W2286358774 doi "https://doi.org/10.1042/bj20150652" @default.
• W2286358774 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26349540" @default.
• W2286358774 hasPublicationYear "2015" @default.

• next