Citations for
1LAMB2, 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
2LAMB2, LMNA, TMPO
Laminopathies and lamin-associated signaling pathways.
Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G.
J Cell Biochem 112(4):979-92. doi: 10.1002/jcb.22992. Review. 2011
3LAMB2, MCCNS
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M.
Hum Mutat 31(9):992-1002. Review. 2010
4LAMB2, MCCNS
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL.
J Med Genet 46(3):203-8. 2009
5LAMB2
The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment.
Jacoby AS, Busch-Nentwich E, Bryson-Richardson RJ, Hall TE, Berger J, Berger S, Sonntag C, Sachs C, Geisler R, Stemple DL, Currie PD.
Development 136(19):3367-76. 2009
6LAMB1, LAMB2
The C-terminal region of laminin beta chains modulates the integrin binding affinities of laminins.
Taniguchi Y, Ido H, Sanzen N, Hayashi M, Sato-Nishiuchi R, Futaki S, Sekiguchi K.
J Biol Chem 284(12):7820-31. Epub 2009 Jan 15. 2009
7LAMB2, MCCNS
Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I.
Am J Ophthalmol 146(4):602-611. Epub 2008 Jul 31. 2008
8LAMA2, LAMB2, LAMC2
Laminin isoforms in development and disease.
Schéele S, Nyström A, Durbeej M, Talts JF, Ekblom M, Ekblom P.
J Mol Med 85(8):825-36. Epub 2007 Apr 11. Review. 2007
9LAMA1, 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
10LAMA4, LAMB1, LAMB2, LAMC1
Changes in laminin isoforms associated with brain tumor invasion and angiogenesis.
Ljubimova JY, Fujita M, Khazenzon NM, Ljubimov AV, Black KL.
Front Biosci 11:81-8. Review. 2006
11LAMB2, MCCNS
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, NŸrnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bršking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, NŸrnberg P, Zenker M, Hildebrandt F.
Kidney Int 70(6):1008-12. Epub 2006 Aug 16. 2006
12MCCNS, LAMB2
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.
Zenker M, Pierson M, Jonveaux P, Reis A.
Am J Med Genet A 138(1):73-4. No abstract available. 2005
13MCCNS, LAMB2
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A.
Hum Mol Genet 13(21):2625-32. Epub 2004 Sep 14. 2004
14LAMB2
A synaptic laminin-calcium channel interaction organizes active zones in motor nerve terminals.
Nishimune H, Sanes JR, Carlson SS.
Nature 432(7017):580-7. 2004
15LAMB2
Regulation of laminin beta2 chain gene expression in human cancer cell lines.
Durkin ME, Nielsen FC, Loechel F, Albrechtsen R, Wewer UM.
Eur J Biochem 268(13):3797-806. 2001
16D3S4594, LAMB2, LAMB2L, QARS
Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS).
Durkin ME, Jager AC, Khurana TS, Nielsen FC, Albrechtsen R, Wewer UM.
Cytogenet Cell Genet 84(3-4):173-8. 1999
17DMD, LAMB2, SGCA, SGCB
Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
Jones KJ, Kim SS, North KN.
J Med Genet 35(5):379-86. 1998
18LAMB1, LAMB2
Structural organization of the human and mouse laminin beta2 chain genes, and alternative splicing at the 5' end of the human transcript.
Durkin ME, Gautam M, Loechel F, Sanes JR, Merlie JP, Albrechtsen R, Wewer UM.
J Biol Chem 271(23):13407-16. 1996
19LAMB2
A synaptic localization domain in the synaptic cleft protein laminin beta 2 (s-laminin)
Martin PT, Ettinger AJ, Sanes JR.
Science 269(5222):413-6. 1995
20LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC1, LAMC2
A new nomenclature for the laminins.
Burgeson RE, Chiquet M, Deutzmann R, Ekblom P, Engel J, Kleinman H, Martin GR, Meneguzzi G, Paulsson M, Sanes J, et al.
Matrix Biol 14(3):209-11. 1994
21LAMB2
Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas.
Wewer UM, Gerecke DR, Durkin ME, Kurtz KS, Mattei MG, Champliaud MF, Burgeson RE, Albrechtsen R.
Genomics 24(2):243-52. 1994