Citations for
1FOXP1, GRIN2B, LAMC3, SCN1A
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.
Nat Genet 43(6):585-9. Epub 2011 May 15. 2011
2LAMC3, OCGA
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Cağlayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M.
Nat Genet 43(6):590-4. Epub 2011 May 15. 2011
3LAMB2, LAMC3
Genetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retina.
Hirrlinger PG, Pannicke T, Winkler U, Claudepierre T, Varshney S, Schulze C, Reichenbach A, Brunken WJ, Hirrlinger J.
PLoS One 6(1):e16106. 2011
4LAMC3
Laminin isoforms containing the gamma3 chain are unable to bind to integrins due to the absence of the glutamic acid residue conserved in the C-terminal regions of the gamma1 and gamma2 chains.
Ido H, Ito S, Taniguchi Y, Hayashi M, Sato-Nishiuchi R, Sanzen N, Hayashi Y, Futaki S, Sekiguchi K.
J Biol Chem 283(42):28149-57. Epub 2008 Aug 12. 2008
5LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMC1, LAMC2, LAMC3, ITGA3, ITGA6, ITGB1, ITGB4
Retinal pigment epithelial cells synthesize laminins, including laminin 5, and adhere to them through alpha3- and alpha6-containing integrins.
Aisenbrey S, Zhang M, Bacher D, Yee J, Brunken WJ, Hunter DD.
Invest Ophthalmol Vis Sci 47(12):5537-44. 2006
6LAMC3
Structural analysis and mutation detection strategy for the human LAMC3 gene.
Cserhalmi-Friedman PB, Olson PF, Koch M, Champliaud MF, Brunken WJ, Burgeson RE, Christiano AM.
Biochem Biophys Res Commun 280(1):39-44. 2001
7LAMC3
Characterization and expression of the laminin gamma3 chain: a novel, non-basement membrane-associated, laminin chain.
Koch M, et al.
J Cell Biol 145(3):605-18 1999