ID Database Citation 10.3180/R-HSA-72163.3 DOI "mRNA Splicing - Major Pathway (update) [Internet]. May B, editor. Reactome. Reactome; Available from: http://dx.doi.org/10.3180/R-HSA-72163.3 DOI Scholia" 8019699 Pubmed "Insulin structure and stability. Brange J, Langkjoer L. Pharm Biotechnol. 1993;5:315–50. PubMed Europe PMC Scholia" 8863824 Pubmed "Identification, molecular cloning, and distribution of a short variant of the 5-hydroxytryptamine2C receptor produced by alternative splicing. Canton H, Emeson RB, Barker EL, Backstrom JR, Lu JT, Chang MS, et al. Mol Pharmacol. 1996 Oct;50(4):799–807. PubMed Europe PMC Scholia" 9108119 Pubmed "Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, et al. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4143–8. PubMed Europe PMC Scholia" 9153397 Pubmed "Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Burns CM, Chu H, Rueter SM, Hutchinson LK, Canton H, Sanders-Bush E, et al. Nature. 1997 May 15;387(6630):303–8. PubMed Europe PMC Scholia" 9971736 Pubmed "Mammalian homologue of the Caenorhabditis elegans UNC-76 protein involved in axonal outgrowth is a protein kinase C zeta-interacting protein. Kuroda S, Nakagawa N, Tokunaga C, Tatematsu K, Tanizawa K. J Cell Biol. 1999 Feb 8;144(3):403–11. PubMed Europe PMC Scholia" 11438699 Pubmed "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL. Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8844–9. PubMed Europe PMC Scholia" 15649943 Pubmed "Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O’Neill MA, et al. Hum Mol Genet. 2005 Mar 1;14(5):627–37. PubMed Europe PMC Scholia" 18930956 Pubmed "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" 20023648 Pubmed "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" 21914775 Pubmed "Regulation of NKB pathways and their roles in the control of Kiss1 neurons in the arcuate nucleus of the male mouse. Navarro VM, Gottsch ML, Wu M, García-Galiano D, Hobbs SJ, Bosch MA, et al. Endocrinology. 2011 Nov;152(11):4265–75. PubMed Europe PMC Scholia" 22065085 Pubmed "A global view of the OCA2-HERC2 region and pigmentation. Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, et al. Hum Genet. 2012 May;131(5):683–96. PubMed Europe PMC Scholia" 22694955 Pubmed "The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B. Hum Mol Genet. 2012 Sep 15;21(18):4038–48. PubMed Europe PMC Scholia" 23341784 Pubmed "Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick R, Colmers WF. PLoS Genet. 2013;9(1):e1003207. PubMed Europe PMC Scholia" 25002992 Pubmed "Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more? Colmers WF, Wevrick R. Rare Dis. 2013 Mar 27;1:e24421. PubMed Europe PMC Scholia" 25957321 Pubmed "A new pathway in the control of the initiation of puberty: the MKRN3 gene. Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC. J Mol Endocrinol. 2015 Jun;54(3):R131-9. PubMed Europe PMC Scholia" 27288456 Pubmed "Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits. Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, et al. Hum Mol Genet. 2016 Aug 1;25(15):3208–15. PubMed Europe PMC Scholia" 27931246 Pubmed "Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. Garfield AS, Davies JR, Burke LK, Furby HV, Wilkinson LS, Heisler LK, et al. Mol Brain. 2016 Dec 8;9(1):95. PubMed Europe PMC Scholia" 27941249 Pubmed "Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, et al. J Clin Invest. 2017 Jan 3;127(1):293–305. PubMed Europe PMC Scholia" 28009282 Pubmed "Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, et al. Cell Rep. 2016 Dec 20;17(12):3115–24. PubMed Europe PMC Scholia" 28074012 Pubmed "Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of the INK4/ARF locus in non-small cell lung cancer. Gamell C, Gulati T, Levav-Cohen Y, Young RJ, Do H, Pilling P, et al. Sci Signal. 2017 Jan 10;10(461):eaaf8223. PubMed Europe PMC Scholia" 29425059 Pubmed "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" 29499229 Pubmed "γ-Tubulin has a conserved intrinsic property of self-polymerization into double stranded filaments and fibrillar networks. Chumová J, Trögelová L, Kourová H, Volc J, Sulimenko V, Halada P, et al. Biochim Biophys Acta Mol Cell Res. 2018 May;1865(5):734–48. PubMed Europe PMC Scholia"