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A spontaneous mutation in contactin 1 in the mouse.

Davisson MT, Bronson RT, Tadenev AL, Motley WW, Krishnaswamy A, Seburn KL, Burgess RW.

PLoS One. 2011;6(12):e29538. doi: 10.1371/journal.pone.0029538. Epub 2011 Dec 29.


Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN.

Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.


A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.

Bogdanik LP, Chapman HD, Miers KE, Serreze DV, Burgess RW.

PLoS One. 2012;7(1):e30217. doi: 10.1371/journal.pone.0030217. Epub 2012 Jan 17.


Animal models for genetic neuromuscular diseases.

Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU.

J Mol Neurosci. 2008 Mar;34(3):241-8. doi: 10.1007/s12031-007-9023-9. Epub 2008 Jan 18. Review.


Contactin 1 (CNTN1) expression associates with regional lymph node metastasis and is a novel predictor of prognosis in patients with oral squamous cell carcinoma.

Wu HM, Cao W, Ye D, Ren GX, Wu YN, Guo W.

Mol Med Rep. 2012 Aug;6(2):265-70. doi: 10.3892/mmr.2012.910. Epub 2012 May 9.


Myotendinous junction defects and reduced force transmission in mice that lack alpha7 integrin and utrophin.

Welser JV, Rooney JE, Cohen NC, Gurpur PB, Singer CA, Evans RA, Haines BA, Burkin DJ.

Am J Pathol. 2009 Oct;175(4):1545-54. doi: 10.2353/ajpath.2009.090052. Epub 2009 Sep 3.


Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome.

Miner JH, Go G, Cunningham J, Patton BL, Jarad G.

Development. 2006 Mar;133(5):967-75. Epub 2006 Feb 1.


Neuromuscular development in the avian paralytic mutant crooked neck dwarf (cn/cn): further evidence for the role of neuromuscular activity in motoneuron survival.

Oppenheim RW, Prevette D, Houenou LJ, Pincon-Raymond M, Dimitriadou V, Donevan A, O'Donovan M, Wenner P, Mckemy DD, Allen PD.

J Comp Neurol. 1997 May 12;381(3):353-72.


Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.

O'Leary DA, Noakes PG, Lavidis NA, Kola I, Hertzog PJ, Ristevski S.

Mol Cell Biol. 2007 May;27(9):3470-80. Epub 2007 Feb 26.


A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.


The gene encoding the mouse contactin-1 axonal glycoprotein is regulated by the collier/Olf1/EBF family early B-Cell factor 2 transcription factor.

Bizzoca A, Picocci S, Corsi P, Arbia S, Croci L, Consalez GG, Gennarini G.

Dev Neurobiol. 2015 Dec;75(12):1420-40. doi: 10.1002/dneu.22293. Epub 2015 Jun 8.


Expanding the Ig superfamily code for laminar specificity in retina: expression and role of contactins.

Yamagata M, Sanes JR.

J Neurosci. 2012 Oct 10;32(41):14402-14. doi: 10.1523/JNEUROSCI.3193-12.2012.


A complex between contactin-1 and the protein tyrosine phosphatase PTPRZ controls the development of oligodendrocyte precursor cells.

Lamprianou S, Chatzopoulou E, Thomas JL, Bouyain S, Harroch S.

Proc Natl Acad Sci U S A. 2011 Oct 18;108(42):17498-503. doi: 10.1073/pnas.1108774108. Epub 2011 Oct 3. Erratum in: Proc Natl Acad Sci U S A. 2012 Mar 20;109(12):4708.


A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.

Fuerst PG, Harris BS, Johnson KR, Burgess RW.

Genesis. 2010 Oct 1;48(10):578-84. doi: 10.1002/dvg.20662.


Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.

Mol Vis. 2005 Feb 28;11:152-62.


Ectopic skeletal muscles derived from myoblasts implanted under the skin.

Irintchev A, Rosenblatt JD, Cullen MJ, Zweyer M, Wernig A.

J Cell Sci. 1998 Nov;111 ( Pt 22):3287-97.


crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

Conti V, Aghaie A, Cilli M, Martin N, Caridi G, Musante L, Candiano G, Castagna M, Fairen A, Ravazzolo R, Guenet JL, Puliti A.

Int J Mol Med. 2006 Oct;18(4):593-600.


A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?

Puk O, Esposito I, Söker T, Löster J, Budde B, Nürnberg P, Michel-Soewarto D, Fuchs H, Wolf E, Hrabé de Angelis M, Graw J.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4311-8. doi: 10.1167/iovs.09-3451. Epub 2009 Apr 30.


A synaptic nidogen: developmental regulation and role of nidogen-2 at the neuromuscular junction.

Fox MA, Ho MS, Smyth N, Sanes JR.

Neural Dev. 2008 Sep 25;3:24. doi: 10.1186/1749-8104-3-24.


An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.

Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW.

Neuron. 2006 Sep 21;51(6):715-26.

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