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4 results for “Mondo”

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zenodo48/100

Rare Disease analysis in Mondo

<p>To answer the question of &#39;How many rare diseases are there?&#39; we analyzed terms in Mondo to get a total count of Rare Diseases as defined in Mondo Disease Ontology (Mondo).</p> <p>&nbsp;</p> <p>Methods</p> <p>This analysis was performed on the <a href="http://purl.obolibrary.org/obo/mondo/releases/2019-09-30/mondo.json">Mondo 2019-09-30 release</a>.</p> <p><strong>1. Get all &#39;Disease&#39; terms from Mondo</strong></p> <p>First we get all the terms in Mondo that are a descendants of <code>MONDO:0000001 &#39;Disease&#39;</code>.</p> <p>There are <code>21633</code> Mondo disease terms.</p> <p><strong>2. Filter terms that are descendants of &#39;disease susceptibility&#39;</strong></p> <p>We then filter out terms that are descendants of <code>MONDO:0042489 &#39;disease susceptibility&#39;</code>, to avoid counting ambiguous terms that are related to disease susceptibility and not the actual disease itself.</p> <p>This gives us a list of <code>21563</code> Mondo rare disease terms.</p> <p><strong>3. Identify terms that are &#39;rare&#39;</strong></p> <p>Any disease term in Mondo is considered rare if the term, or its ancestor, has modifier <code>MONDO:0021136 &#39;Rare&#39;</code> in the ontology.</p> <p>There are <code>12914</code> Mondo rare disease terms.</p> <p><strong>4. Consider terms in &#39;gard_rare&#39; subset</strong></p> <p>There are <code>3176</code> Mondo disease terms that are in <code>gard_rare</code> subset which contains Mondo terms that are yet to be treated as &#39;rare&#39;.</p> <p>We add these terms to our set of Mondo rare disease terms.</p> <p>This increases the Mondo rare disease term count to <code>13866</code>.</p> <p>But for this analysis, we are interested in terms that are both rare and are leaf nodes in the ontology.</p> <p>After considering only leaf nodes, we get <code>10394</code> as the final count of Mondo rare disease terms.</p> <p>&nbsp;</p> <p>Results</p> <p>all-mondo-disease-terms.tsv: As part of our analysis, we generated a TSV containing 21633 Mondo disease terms, each with annotations that signifies whether the term is a rare disease term and whether that term is a leaf node in the ontology.</p>

opencc-by-nc-sa-3.0Oct 2019View details →
zenodo32/100

Altro Mondo

Impossible architecture inspirated by M.C. Escher. Source: Objaverse 1.0 / Sketchfab

opencc-byNov 2017View details →
dryad28/100

Data from: The Caenorhabditis elegans Myc-Mondo/Mad complexes integrate diverse longevity signals

The Myc family of transcription factors regulates a variety of biological processes, including the cell cycle, growth, proliferation, metabolism, and apoptosis. In Caenorhabditis elegans, the "Myc interaction network" consists of two opposing heterodimeric complexes with antagonistic functions in transcriptional control: the Myc-Mondo:Mlx transcriptional activation complex and the Mad:Max transcriptional repression complex. In C. elegans, Mondo, Mlx, Mad, and Max are encoded by mml-1, mxl-2, mdl-1, and mxl-1, respectively. Here we show a similar antagonistic role for the C. elegans Myc-Mondo and Mad complexes in longevity control. Loss of mml-1 or mxl-2 shortens C. elegans lifespan. In contrast, loss of mdl-1 or mxl-1 increases longevity, dependent upon MML-1:MXL-2. The MML-1:MXL-2 and MDL-1:MXL-1 complexes function in both the insulin signaling and dietary restriction pathways. Furthermore, decreased insulin-like/IGF-1 signaling (ILS) or conditions of dietary restriction increase the accumulation of MML-1, consistent with the notion that the Myc family members function as sensors of metabolic status. Additionally, we find that Myc family members are regulated by distinct mechanisms, which would allow for integrated control of gene expression from diverse signals of metabolic status. We compared putative target genes based on ChIP-sequencing data in the modENCODE project and found significant overlap in genomic DNA binding between the major effectors of ILS (DAF-16/FoxO), DR (PHA-4/FoxA), and Myc family (MDL-1/Mad/Mxd) at common target genes, which suggests that diverse signals of metabolic status converge on overlapping transcriptional programs that influence aging. Consistent with this, there is over-enrichment at these common targets for genes that function in lifespan, stress response, and carbohydrate metabolism. Additionally, we find that Myc family members are also involved in stress response and the maintenance of protein homeostasis. Collectively, these findings indicate that Myc family members integrate diverse signals of metabolic status, to coordinate overlapping metabolic and cytoprotective transcriptional programs that determine the progression of aging.

opencc-zeroDec 2013View details →
dryad28/100

Data from: The Caenorhabditis elegans Myc-Mondo/Mad complexes integrate diverse longevity signals

Open the record for dataset details and reuse information.

publicMar 2015View details →

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