1 | CHN1, DURS2
|
| α2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection.
|
| Clark C, Austen O, Poparic I, Guthrie S.
|
| J Neurosci 33(42):16540-51. doi: 10.1523/JNEUROSCI.1869-13.2013.
2013
|
2 | CHN1, DURS2, PLXNA1, PLXNA2
|
| Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin.
|
| Ferrario JE, Baskaran P, Clark C, Hendry A, Lerner O, Hintze M, Allen J, Chilton JK, Guthrie S.
|
| Proc Natl Acad Sci U S A 109(36):14669-74. doi: 10.1073/pnas.1116481109.
2012
|
3 | CHN1, DURS2
|
| Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
|
| Chan WM, Miyake N, Zhu-Tam L, Andrews C, Engle EC.
|
| Arch Ophthalmol 129(5):649-52. doi: 10.1001/archophthalmol.2011.84.
2011
|
4 | CHN1, DURS2
|
| Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
|
| 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.
|
| Science 321(5890):839-43. Epub 2008 Jul 24. 2008
|
5 | DURS2
|
| Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.
|
| Demer JL, Clark RA, Lim KH, Engle EC.
|
| Invest Ophthalmol Vis Sci 48(1):194-202. 2007
|
6 | DURS2
|
| Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.
|
| Engle EC, Andrews C, Law K, Demer JL.
|
| Invest Ophthalmol Vis Sci 48(1):189-93. 2007
|
7 | DURS2
|
| Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
|
| Evans JC, Frayling TM, Ellard S, Gutowski NJ.
|
| Hum Genet 106(6):636-8. 2000
|
8 | DURS2
|
| Localization of a gene for Duane retraction syndrome to chromosome 2q31.
|
| 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.
|
| Am J Hum Genet 65(6):1639-46 1999
|