| 1 | DFN6, SMPX
|
| A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
|
| Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL.
|
| Hum Mutat 34(1):66-9. doi: 10.1002/humu.22205. Epub 2012 Oct 11.
2013
|
| 2 | DFN6, SMPX
|
| Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
|
| Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I.
|
| Am J Hum Genet 88(5):621-7. Epub 2011 May 5.
2011
|
| 3 | DFN6, SMPX
|
| Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
|
| Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H.
|
| Am J Hum Genet 88(5):628-34. Epub 2011 May 5.
2011
|
| 4 | ATOH1, SMPX, TEKT2
|
| Genes expressed in Atoh1 neuronal lineages arising from the r1/isthmus rhombic lip.
|
| Machold R, Klein C, Fishell G.
|
| Gene Expr Patterns 11(5-6):349-59. doi: 10.1016/j.gep.2011.03.007. Epub 2011 Apr 2.
2011
|
| 5 | SMPX
|
| Muscle costameric protein, Chisel/Smpx, associates with focal adhesion complexes and modulates cell spreading in vitro via a Rac1/p38 pathway.
|
| Schindeler A, Lavulo L, Harvey RP.
|
| Exp Cell Res 307(2):367-80.
2005
|
| 6 | SMPX
|
| Identification of a novel stretch-responsive skeletal muscle gene (smpx).
|
| Kemp TJ, Sadusky TJ, Simon M, Brown R, Eastwood M, Sassoon DA, Coulton GR.
|
| Genomics 72(3):260-71. 2001
|
| 7 | SMPX
|
| Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.
|
| Patzak D, Zhuchenko O, Lee CC, Wehnert M.
|
| Hum Genet 105(5):506-12 1999
|