3 research outputs found
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the Article to read 'A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'
Placemaking from Interstitial Spaces: Participatory planning and collaborative community design as strategies to revitalize a service alleyway in Montreal (Bishop/Mackay)
This project explores participatory planning and community design methodologies (i.e. pattern language design, placemaking, community planning charrettes, planning-in-situ, open planning and peer to peer urbanism) to revitalize a service alleyway in downtown Montreal. The objective of this project is to democratize planning and urban design practices and to engage ordinary citizens in the planning of their own spaces.
After a series of visioning workshops, brainstorming sessions and a community planning charrette, this project incorporates inputs from stakeholders, students and ordinary citizens into a collaborative urban design project.
The project proposes interventions such as a woonerf, a planning committee, a cubic/fractal scaffolding structure, art murals and wall projections (among others).
With the objective of encouraging future adaptations and transformations, this project is published under a Creative Commons license. Adopt and adapt these ideas (but cite and acknowledge accordingly)
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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name âepi-cblCâ. The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC thereby possibly generating a H3K36me3 mark. The silencing of PRDX1 transcription leads to partial hypomethylation of the epiallele and restores the expression of MMACHC. This example of epi-cblC demonstrates the need to search for compound epigenetic-genetic heterozygosity in patients with typical disease manifestation and genetic heterozygosity in disease-causing genes located in other gene trios