Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | anxiety disorder | | ISO | RGD:734100 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18272690 | autistic disorder | | ISO | RGD:734100 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18272690 | developmental coordination disorder | | ISO | RGD:734100 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20868654 | renal cell carcinoma | | ISO | RGD:734100 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22138691 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Paralemmin-1, a modulator of filopodia induction is required for spine maturation. | Arstikaitis P, etal., Mol Biol Cell. 2008 May;19(5):2026-38. doi: 10.1091/mbc.E07-08-0802. Epub 2008 Feb 20. |
| 2. | Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin. | Bockers TM, etal., J Biol Chem 2001 Oct 26;276(43):40104-12. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 5. | The postsynaptic density proteins Homer and Shank form a polymeric network structure. | Hayashi MK, etal., Cell. 2009 Apr 3;137(1):159-71. doi: 10.1016/j.cell.2009.01.050. |
| 6. | Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. | Lim S, etal., J Biol Chem 1999 Oct 8;274(41):29510-8. |
| 7. | Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins. | Lim S, etal., Mol Cell Neurosci 2001 Feb;17(2):385-97. |
| 8. | Loose ligation of the rat sciatic nerve elicits early accumulation of Shank1 protein in the post-synaptic density of spinal dorsal horn neurons. | Miletic G, etal., Pain. 2010 Apr;149(1):152-9. Epub 2010 Feb 18. |
| 9. | Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. | Naisbitt S, etal., Neuron 1999 Jul;23(3):569-82. |
| 10. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 11. | Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton. | Okamoto PM, etal., J Biol Chem 2001 Dec 21;276(51):48458-65. |
| 12. | The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42. | Park E, etal., J Biol Chem. 2003 May 23;278(21):19220-9. Epub 2003 Mar 7. |
| 13. | Crystallization and preliminary X-ray crystallographic studies of the PDZ domain of Shank1 from Rattus norvegicus. | Park SH, etal., Acta Crystallogr D Biol Crystallogr 2002 Aug;58(Pt 8):1353-5. |
| 14. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses. | Romorini S, etal., J Neurosci. 2004 Oct 20;24(42):9391-404. |
| 18. | Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission. | Thomas GM, etal., Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15006-11. Epub 2005 Oct 10. |
| 19. | The G protein-coupled receptor CL1 interacts directly with proteins of the Shank family. | Tobaben S, etal., J Biol Chem 2000 Nov 17;275(46):36204-10. |
| 20. | Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. | Tu JC, etal., Neuron. 1999 Jul;23(3):583-92. |
| 21. | Synamon, a novel neuronal protein interacting with synapse-associated protein 90/postsynaptic density-95-associated protein. | Yao I, etal., J Biol Chem 1999 Sep 24;274(39):27463-6. |
| 22. | Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain. | Zitzer H, etal., J Biol Chem. 1999 Nov 12;274(46):32997-3001. |
Additional References at PubMed
| PMID:10806096 | PMID:11498055 | PMID:12954649 | PMID:15121189 | PMID:15207857 | PMID:15458844 | PMID:15689539 | PMID:15950311 | PMID:16002212 | PMID:16606358 | PMID:18272690 | PMID:19208628 |
| PMID:19416473 | PMID:19547699 | PMID:20117114 | PMID:20868654 | PMID:21144999 | PMID:21376703 | PMID:21695253 | PMID:21795692 | PMID:21940441 | PMID:22503632 | PMID:24298140 | PMID:25775468 |
| PMID:28263956 | PMID:29250591 | PMID:29476059 | PMID:32564287 | PMID:33577886 |
Genomics
