| 1 | LAMA2, MDC1A
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| Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.
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| Yang Y, Mao B, Wang L, Mao L, Zhou A, Cao J, Hu J, Zhou Y, Pan Y, Wei X, Yang S, Mu F, Liu Z.
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| Mol Med Rep 11(5):3687-93. doi: 10.3892/mmr.2014.3135. Epub 2014 Dec 24.
2015
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| 2 | LAMA2, MDC1A
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| LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies.
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| L Kken N, Born AP, Duno M, Vissing J.
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| Muscle Nerve uscle Nerve. 2015 Feb 5. doi: 10.1002/mus.24588. [Epub ahead of print]
2015
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| 3 | LAMA2, MDC1A
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| High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
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| Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.
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| Mol Cell Probes 28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
2014
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| 4 | LAMA2
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| Laminin α2-mediated focal adhesion kinase activation triggers Alport glomerular pathogenesis.
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| Delimont D, Dufek BM, Meehan DT, Zallocchi M, Gratton MA, Phillips G, Cosgrove D.
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| PLoS One 9(6):e99083. doi: 10.1371/journal.pone.0099083. eCollection 2014.
2014
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| 5 | LAMA2
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| Identification of cell adhesive sequences in the N-terminal region of the laminin α2 chain.
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| Hozumi K, Ishikawa M, Hayashi T, Yamada Y, Katagiri F, Kikkawa Y, Nomizu M.
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| J Biol Chem 287(30):25111-22. doi: 10.1074/jbc.M112.348151. Epub 2012 May 31.
2012
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| 6 | LAMA2, MDC1A
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| Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
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| Carmignac V, Svensson M, Körner Z, Elowsson L, Matsumura C, Gawlik KI, Allamand V, Durbeej M.
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| Hum Mol Genet 20(24):4891-902. doi: 10.1093/hmg/ddr427. Epub 2011 Sep 14.
2011
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| 7 | LAMA2, MDC1A
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| Congenital muscular dystrophies with cognitive impairment. A population study.
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| Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E.
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| Neurology 75(10):898-903.PMID: 20820001 2010
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| 8 | LAMA2, LAMA3, LAMA4, LAMA5
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| Laminin-3B11, a novel vascular-type laminin capable of inducing prominent lamellipodial protrusions in microvascular endothelial cells.
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| Mori T, Ono K, Kariya Y, Ogawa T, Higashi S, Miyazaki K.
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| J Biol Chem 285(45):35068-78. Epub 2010 Aug 30.
2010
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| 9 | LAMA2
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| Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development.
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| Relucio J, Tzvetanova ID, Ao W, Lindquist S, Colognato H.
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| J Neurosci 29(38):11794-806.PMID: 19776266 2009
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| 10 | LAMA2, MDC1A, XRCC6
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| Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.
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| Vishnudas VK, Miller JB.
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| Hum Mol Genet 18(23):4467-77. Epub 2009 Aug 19.PMID: 19692349 2009
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| 11 | LAMA2, MDC1A
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| LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
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| Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.
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| Clin Genet 74(6):502-12. Epub 2008 Jun 11.
2008
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| 12 | LAMA2, MDC1A
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| Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.
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| Yuan J, Takashima H, Higuchi I, Arimura K, Li N, Zhao Z, Shen H, Hu J.
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| Neuropediatrics 39(5):264-7. Epub 2009 Mar 17.
2008
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| 13 | LAMA2, MDC1A
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| LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
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| Siala O, Louhichi N, Triki C, Moriničre M, Fakhfakh F, Baklouti F.
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| Neuromuscul Disord 18(2):137-45. Epub 2007 Nov 28.PMID: 18053718 2008
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| 14 | LAMA2, LAMB2, LAMC2
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| Laminin isoforms in development and disease.
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| Schéele S, Nyström A, Durbeej M, Talts JF, Ekblom M, Ekblom P.
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| J Mol Med 85(8):825-36. Epub 2007 Apr 11. Review. 2007
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| 15 | LAMA1, LAMA2, MDC1A
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| Laminin alpha1 chain improves laminin alpha2 chain deficient peripheral neuropathy.
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| Gawlik KI, Li JY, Petersen A, Durbeej M.
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| Hum Mol Genet 15(18):2690-700. Epub 2006 Aug 7. 2006
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| 16 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 17 | LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMC1, LAMC2, LAMC3, ITGA3, ITGA6, ITGB1, ITGB4
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| Retinal pigment epithelial cells synthesize laminins, including laminin 5, and adhere to them through alpha3- and alpha6-containing integrins.
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| Aisenbrey S, Zhang M, Bacher D, Yee J, Brunken WJ, Hunter DD.
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| Invest Ophthalmol Vis Sci 47(12):5537-44. 2006
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| 18 | LAMA2
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| LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
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| Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M.
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| Arch Neurol 62(10):1582-6. 2005
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| 19 | LAMA2
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| Laminin alpha2 is essential for odontoblast differentiation regulating dentin sialoprotein expression.
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| Yuasa K, Fukumoto S, Kamasaki Y, Yamada A, Fukumoto E, Kanaoka K, Saito K, Harada H, Arikawa-Hirasawa E, Miyagoe-Suzuki Y, Takeda S, Okamoto K, Kato Y, Fujiwara T.
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| J Biol Chem 279(11):10286-92. Epub 2003 Dec 16. 2004
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| 20 | LAMA2, MDC1A
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| LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
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| Prandini P, Berardinelli A, Fanin M, Morello F, Zardini E, Pichiecchio A, Uggetti C, Lanzi G, Angelini C, Pegoraro E.
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| Neurology 63(6):1118-21. 2004
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| 21 | LAMA2
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| Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency
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| Tezak Z, Prandini P, Boscaro M, Marin A, Devaney J, Marino M, Fanin M, Trevisan CP, Park J, Tyson W, Finkel R, Garcia C, Angelini C, Hoffman EP, Pegoraro E.
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| Hum Mutat 21(2):103-11. 2003
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| 22 | LAMA2
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| Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
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| Di Blasi C, He Y, Morandi L, Cornelio F, Guicheney P, Mora M.
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| Brain 124(Pt 4):698-704. 2001
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| 23 | LAMA2, MDC1A
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| Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
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| Naom I, D'alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F.
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| Brain 123 ( Pt 1):31-41. 2000
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| 24 | LAMA2, MDC1A
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| Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
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| D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F.
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| Hum Genet 105(4):308-13. 1999
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| 25 | LAMA2
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| PCR based mutation screening of the laminin alpha2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
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| Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tome FM, Fardeau M, Tryggvason K.
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| J Med Genet 35(3):211-7. 1998
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| 26 | LAMA2, MDC1A
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| Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
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| Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.
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| Neuromuscul Disord 8 : 495-501. 1998
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| 27 | DAG1, LAMA2
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| Role of alpha-dystroglycan as a Schwann cell receptor for Mycobacterium leprae.
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| Rambukkana A, Yamada H, Zanazzi G, Mathus T, Salzer JL, Yurchenco PD, Campbell KP, Fischetti VA.
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| Science 282(5396):2076-9. 1998
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| 28 | LAMA2, MDC1A
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| Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
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| Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F.
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| J Med Genet 34(2):99-104. 1997
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| 29 | LAMA2, MDC1A
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| Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain.
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| Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP.
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| Hum Mol Genet 6(5):747-52. 1997
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| 30 | LAMA2, MDC1A
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| Localization of laminin chains in the human retina : possible implications for congenital muscular dystrophy associated with alpha2-chain of laminin deficiency.
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| Toti P, De Felice C, Malandrini A, Megha T, Cardone C, Villanova M.
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| Neuromuscul Disord 7(1):21-5. 1997
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| 31 | LAMA2, MDC1A
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| Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
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| Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tome FM, Schwartz K, Tryggvason K, Guicheney P.
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| Am J Hum Genet 58(6):1177-84. 1996
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| 32 | MDC1A, LAMA2
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| Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.
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| Hayashi YK, Koga R, Tsukahara T, Ishii H, Matsuishi T, Yamashita Y, Nonaka I, Arahata K.
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| Muscle Nerve 18(9):1027-30. 1995
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| 33 | LAMA2, MDC1A
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| Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
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| Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al.
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| Nat Genet 11(2):216-8. 1995
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| 34 | LAMA2, MDC1A
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| Readjusting the localization of merosin (laminin alpha2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
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| Helbling-Leclerc A, Topaloglu H, Tome FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B, et al.
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| C R Acad Sci III 318(12):1245-52. 1995
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| 35 | FCMD, LAMA2, WLKWS1, FKTN
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| Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
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| Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsold R, Helliwell TR, Appleton R, et al.
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| Neuropediatrics 26(3):148-55. 1995
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| 36 | LAMA2
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| Human laminin M chain (Merosin) : complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues.
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| Vuolteenaho R, Nissinen M, Sainio K, Byers M, Eddy R, Hirvonen H, Shows TB, Sariola H, Engvall E, Tryggvason K.
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| J Cell Biol 124(3):381-94. 1994
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| 37 | LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMC1, LAMC2
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| A new nomenclature for the laminins.
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| Burgeson RE, Chiquet M, Deutzmann R, Ekblom P, Engel J, Kleinman H, Martin GR, Meneguzzi G, Paulsson M, Sanes J, et al.
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| Matrix Biol 14(3):209-11. 1994
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| 38 | LAMA2
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| Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression.
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| Hori H, Kanamori T, Mizuta T, Yamaguchi N, Liu Y, Nagai Y.
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| J Biochem 116(6):1212-9.PMID: 7535762 1994
|