Prader-Willi and Angelman syndrome (WP3998)

Homo sapiens

Authors

Kelly Janssen , Martina Summer-Kutmon , Friederike Ehrhart , Susan Coort , Egon Willighagen , Denise Slenter , Alex Pico , Anders Riutta , Kristina Hanspers , Eric Weitz , Finterly Hu , and Lars Willighagen

Activity

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Cited In

• Discovering Common Pathogenic Mechanisms of COVID-19 and Parkinson Disease: An Integrated Bioinformatics Analysis (2022).
• Non-dialyzable uremic toxins and renal tubular cell damage in CKD patients: a systems biology approach (2024).

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology

Prader-Willi syndrome Angelman syndrome

Pathway Ontology

disease pathway

References

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9. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Miller NLG, Wevrick R, Mellon PL. Hum Mol Genet. 2009 Jan 15;18(2):248–60. PubMed Europe PMC Scholia
10. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, et al. Nat Cell Biol. 2010 Jan;12(1):80–6; sup pp 1-12. PubMed Europe PMC Scholia
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22. Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders. Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. World J Biol Psychiatry. 2019 Nov;20(9):670–82. PubMed Europe PMC Scholia
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