SHANK3

SHANK3

SH3 and multiple ankyrin repeat domains 3, also known as SHANK3, is a human gene on chromsome 22.cite web | title = Entrez Gene: SHANK3 SH3 and multiple ankyrin repeat domains 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=85358| accessdate = ]

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References

Further reading

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citations =
*cite journal | author=Sheng M, Kim E |title=The Shank family of scaffold proteins. |journal=J. Cell. Sci. |volume=113 ( Pt 11) |issue= |pages= 1851–6 |year= 2000 |pmid= 10806096 |doi=
*cite journal | author=Boeckers TM, Kreutz MR, Winter C, "et al." |title=Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density. |journal=J. Neurosci. |volume=19 |issue= 15 |pages= 6506–18 |year= 1999 |pmid= 10414979 |doi=
*cite journal | author=Hirosawa M, Nagase T, Murahashi Y, "et al." |title=Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. |journal=DNA Res. |volume=8 |issue= 1 |pages= 1–9 |year= 2001 |pmid= 11258795 |doi=
*cite journal | author=Bonaglia MC, Giorda R, Borgatti R, "et al." |title=Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 261–8 |year= 2001 |pmid= 11431708 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Soltau M, Richter D, Kreienkamp HJ |title=The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. |journal=Mol. Cell. Neurosci. |volume=21 |issue= 4 |pages= 575–83 |year= 2003 |pmid= 12504591 |doi=
*cite journal | author=Wilson HL, Wong AC, Shaw SR, "et al." |title=Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. |journal=J. Med. Genet. |volume=40 |issue= 8 |pages= 575–84 |year= 2003 |pmid= 12920066 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Bonaglia MC, Giorda R, Mani E, "et al." |title=Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. |journal=J. Med. Genet. |volume=43 |issue= 10 |pages= 822–8 |year= 2006 |pmid= 16284256 |doi= 10.1136/jmg.2005.038604
*cite journal | author=Durand CM, Betancur C, Boeckers TM, "et al." |title=Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. |journal=Nat. Genet. |volume=39 |issue= 1 |pages= 25–7 |year= 2007 |pmid= 17173049 |doi= 10.1038/ng1933
*cite journal | author=Moessner R, Marshall CR, Sutcliffe JS, "et al." |title=Contribution of SHANK3 mutations to autism spectrum disorder. |journal=Am. J. Hum. Genet. |volume=81 |issue= 6 |pages= 1289–97 |year= 2007 |pmid= 17999366 |doi= 10.1086/522590

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