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References

These sources were used to develop the Genetics Home Reference gene summary on the CHN1 gene.

Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT. Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999 Dec;65(6):1639-46. PubMed citation
Beg AA, Sommer JE, Martin JH, Scheiffele P. alpha2-Chimaerin is an essential EphA4 effector in the assembly of neuronal locomotor circuits. Neuron. 2007 Sep 6;55(5):768-78. PubMed citation
Entrez Gene
Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. 2000 Jun;106(6):636-8. PubMed citation
Hall C, Sin WC, Teo M, Michael GJ, Smith P, Dong JM, Lim HH, Manser E, Spurr NK, Jones TA, et al. Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. Mol Cell Biol. 1993 Aug;13(8):4986-98. PubMed citation
Iwasato T, Katoh H, Nishimaru H, Ishikawa Y, Inoue H, Saito YM, Ando R, Iwama M, Takahashi R, Negishi M, Itohara S. Rac-GAP alpha-chimerin regulates motor-circuit formation as a key mediator of EphrinB3/EphA4 forward signaling. Cell. 2007 Aug 24;130(4):742-53. PubMed citation
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. PubMed citation
Wegmeyer H, Egea J, Rabe N, Gezelius H, Filosa A, Enjin A, Varoqueaux F, Deininger K, Schnütgen F, Brose N, Klein R, Kullander K, Betz A. EphA4-dependent axon guidance is mediated by the RacGAP alpha2-chimaerin. Neuron. 2007 Sep 6;55(5):756-67. PubMed citation


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