Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about DISEASE-CAUSING MUTATIONS WITH INTEGRATED REPORTERS: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
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| Name | DISEASE-CAUSING MUTATIONS WITH INTEGRATED REPORTERS |
Knowledge base pages for this entity
graph TD
DISEASE_CAUSING_MUTATIONS_WITH["DISEASE-CAUSING MUTATIONS WITH INTEGRATED REPORTERS"]
DISEASE_CAUSING_MUTATIONS_WITH -->|"studied_in"| neurodegeneration["neurodegeneration"]
DISEASE_CAUSING_MUTATIONS_WITH ---|"co-discussed"| NURR1["NURR1"]
DISEASE_CAUSING_MUTATIONS_WITH ---|"co-discussed"| BDNF["BDNF"]
DISEASE_CAUSING_MUTATIONS_WITH ---|"co-discussed"| HTT["HTT"]
DISEASE_CAUSING_MUTATIONS_WITH ---|"co-discussed"| SIRT1["SIRT1"]
DISEASE_CAUSING_MUTATIONS_WITH ---|"co-discussed"| LDLR["LDLR"]
Cell_type_specific_essential_g["Cell-type-specific essential genes"] ---|"co-discussed"| DISEASE_CAUSING_MUTATIONS_WITH
neuronal_identity_transcriptio["neuronal identity transcription factors"] ---|"co-discussed"| DISEASE_CAUSING_MUTATIONS_WITH
APOE_regulatory_regions["APOE regulatory regions"] ---|"co-discussed"| DISEASE_CAUSING_MUTATIONS_WITH
NURR1 ---|"co-discussed"| DISEASE_CAUSING_MUTATIONS_WITH
FOXO3["FOXO3"] ---|"co-discussed"| DISEASE_CAUSING_MUTATIONS_WITH| Target | Relation | Type | Str |
|---|---|---|---|
| HMGCR, LDLR, APOE regulatory regions | debate_co_mention | gene | 0.45 |
| HTT, DMPK, repeat-containing transcripts | debate_co_mention | gene | 0.45 |
| NURR1, PITX3, neuronal identity transcription factors | debate_co_mention | gene | 0.45 |
| PGC1A, SIRT1, FOXO3, mitochondrial biogenesis genes | debate_co_mention | gene | 0.45 |
| NURR1 | co_discussed | gene | 0.40 |
| BDNF | co_discussed | gene | 0.40 |
| HTT | co_discussed | gene | 0.40 |
| SIRT1 | co_discussed | gene | 0.40 |
| LDLR | co_discussed | gene | 0.40 |
| APOE regulatory regions | co_discussed | gene | 0.40 |
| FOXO3 | co_discussed | gene | 0.40 |
| Cell-type-specific essential genes | co_discussed | gene | 0.40 |
| APOE | co_discussed | gene | 0.40 |
| mitochondrial biogenesis genes | co_discussed | gene | 0.40 |
| neuronal identity transcription factors | co_discussed | gene | 0.40 |
| PITX3 | co_discussed | gene | 0.40 |
| neurodegeneration | implicated_in | disease | 0.40 |
| NURR1, PITX3, neuronal identity transcription factors | co_associated_with | gene | 0.40 |
| PGC1A, SIRT1, FOXO3, mitochondrial biogenesis genes | co_associated_with | gene | 0.40 |
| neurodegeneration | associated_with | disease | 0.37 |
| CRISPR | co_associated_with | gene | 0.30 |
| Source | Relation | Type | Str |
|---|---|---|---|
| h-e23f05fb | targets_gene | hypothesis | 0.90 |
| h-e23f05fb | targets | hypothesis | 0.50 |
| APOE | debate_co_mention | gene | 0.45 |
| BDNF | debate_co_mention | gene | 0.45 |
| BDNF, CREB1, synaptic plasticity genes | debate_co_mention | gene | 0.45 |
| Cell-type-specific essential genes | debate_co_mention | gene | 0.45 |
| Cell-type-specific essential genes | co_discussed | gene | 0.40 |
| neuronal identity transcription factors | co_discussed | gene | 0.40 |
| APOE regulatory regions | co_discussed | gene | 0.40 |
| NURR1 | co_discussed | gene | 0.40 |
| FOXO3 | co_discussed | gene | 0.40 |
| PGC1A | co_discussed | gene | 0.40 |
| BDNF | co_discussed | gene | 0.40 |
| LDLR | co_discussed | gene | 0.40 |
| HTT | co_discussed | gene | 0.40 |
| SIRT1 | co_discussed | gene | 0.40 |
| APOE | co_discussed | gene | 0.40 |
| repeat-containing transcripts | co_discussed | gene | 0.40 |
| PITX3 | co_discussed | gene | 0.40 |
| DMPK | co_discussed | gene | 0.40 |
| synaptic plasticity genes | co_discussed | gene | 0.40 |
| CREB1 | co_discussed | gene | 0.40 |
| HMGCR | co_discussed | gene | 0.40 |
| mitochondrial biogenesis genes | co_discussed | gene | 0.40 |
| Cell-type-specific essential genes | co_associated_with | gene | 0.40 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| Multi-Modal CRISPR Platform for Simultaneous Editing and Mon | 0.423 | neurodegeneration | CRISPR-based therapeutic approaches for |
Scientific analyses that reference this entity
neurodegeneration | 2026-04-03 | 14 hypotheses Top: 0.641
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| Genome editing in Parkinson's disease: Unlocking therapeutic avenues through CRI [PMID:41905621] | ["Singh R", "Maity P", "Jaiswal C"] | Neurochemistry international | 2026 | 0 |
| Targeting Non-coding RNAs in Neurodegeneration: Advances in Therapeutic RNA Moda [PMID:41588889] | ["Thakur A", "Chowdhury K", "Kumar A", " | Current Alzheimer research | 2026 | 0 |
| Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity [PMID:41595476] | ["Chrysostomaki M", "Chatzi D", "Kyriako | Genes | 2026 | 0 |
| Neuroinflammation, Autophagy, and Neurodegeneration: Mechanisms and Therapeutic [PMID:41918200] | ["Khanal P", "Balmik A"] | CNS & neurological disorders d | 2026 | 0 |
| CRISPR-Cas technologies in neurodegenerative disorders: mechanistic insights, th [PMID:41674784] | ["Yashooa R", "Nabi A", "Smail S", "Azee | Frontiers in neurology | 2025 | 0 |
| Magnetic control of tokamak plasmas through deep reinforcement learning. [PMID:35173339] | Degrave J, Felici F, Buchli J, Neunert M | Nature | 2022 | 0 |
| Precision genome editing using cytosine and adenine base editors in mammalian ce [PMID:33462442] | Huang TP, Newby GA, Liu DR | Nature protocols | 2021 | 0 |
| Cardiomyocyte-derived calcitonin regulates atrial fibrosis and AF. [PMID:33199879] | Fernández-Ruiz I | Nature reviews. Cardiology | 2021 | 0 |
| SMS2 deficiency impairs PKCδ-regulated B cell tolerance in the germinal center. [PMID:34469734] | Ou P, Stanek A, Huan Z, Roman CAJ, Huan | Cell reports | 2021 | 0 |
| Co-opting regulation bypass repair as a gene-correction strategy for monogenic d [PMID:33892188] | Hu J, Bourne RA, McGrath BC, Lin A, Pei | Molecular therapy : the journa | 2021 | 0 |
| Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystroph [PMID:30778238] | Nelson CE, Wu Y, Gemberling MP, Oliver M | Nature medicine | 2019 | 0 |
| Application of CRISPR/Cas9 editing and digital droplet PCR in human iPSCs to gen [PMID:31733438] | Überbacher C, Obergasteiger J, Volta M, | Stem cell research | 2019 | 0 |
| Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in [PMID:30540754] | Ramanagoudr-Bhojappa R, Carrington B, Ra | PLoS genetics | 2018 | 0 |
| Computational correction of copy number effect improves specificity of CRISPR-Ca [PMID:29083409] | Meyers RM, Bryan JG, McFarland JM, Weir | Nature genetics | 2017 | 0 |
| Transformation: a tool for studying fungal pathogens of plants. [PMID:11814055] | Mullins ED, Kang S | Cellular and molecular life sc | 2001 | 0 |
Multi-agent debates referencing this entity