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Results: 1 to 20 of 162

Similar articles for PubMed (Select 22952766)

1.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

2.

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.

Hall TE, Bryson-Richardson RJ, Berger S, Jacoby AS, Cole NJ, Hollway GE, Berger J, Currie PD.

Proc Natl Acad Sci U S A. 2007 Apr 24;104(17):7092-7. Epub 2007 Apr 16.

3.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

4.

Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle.

Sztal TE, Sonntag C, Hall TE, Currie PD.

Hum Mol Genet. 2012 Nov 1;21(21):4718-31. doi: 10.1093/hmg/dds312. Epub 2012 Jul 31.

5.

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain.

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.

Hum Mol Genet. 1997 May;6(5):747-52.

6.

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

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.

Hum Mutat. 2003 Feb;21(2):103-11.

PMID:
12552556
7.

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.

Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P.

Am J Hum Genet. 1996 Jun;58(6):1177-84.

8.

Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle.

Cohn RD, Mayer U, Saher G, Herrmann R, van der Flier A, Sonnenberg A, Sorokin L, Voit T.

J Neurol Sci. 1999 Mar 1;163(2):140-52.

PMID:
10371075
9.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Siala O, Louhichi N, Triki C, Morinière M, Rebai A, Richard P, Guicheney P, Baklouti F, Fakhfakh F.

Genet Test. 2007 Fall;11(3):199-207.

PMID:
17949279
10.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP.

Neurology. 1998 Jul;51(1):101-10.

PMID:
9674786
12.

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

Hum Mol Genet. 2011 May 1;20(9):1712-25. doi: 10.1093/hmg/ddr047. Epub 2011 Feb 4.

13.

Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy.

Rooney JE, Knapp JR, Hodges BL, Wuebbles RD, Burkin DJ.

Am J Pathol. 2012 Apr;180(4):1593-602. doi: 10.1016/j.ajpath.2011.12.019. Epub 2012 Feb 6.

14.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13.

15.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.

J Med Genet. 2001 Oct;38(10):649-57. Review.

16.

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.

Biosci Rep. 2011 Apr;31(2):125-35. doi: 10.1042/BSR20100026.

17.

Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice.

Aoki Y, Nagata T, Yokota T, Nakamura A, Wood MJ, Partridge T, Takeda S.

Hum Mol Genet. 2013 Dec 15;22(24):4914-28. doi: 10.1093/hmg/ddt341. Epub 2013 Jul 23.

18.

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.

Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M.

Neuromuscul Disord. 1997 May;7(3):180-6.

PMID:
9185182
19.

Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.

Vishnudas VK, Miller JB.

Hum Mol Genet. 2009 Dec 1;18(23):4467-77. doi: 10.1093/hmg/ddp399. Epub 2009 Aug 19.

20.

Transgenic overexpression of the α7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A.

Doe JA, Wuebbles RD, Allred ET, Rooney JE, Elorza M, Burkin DJ.

J Cell Sci. 2011 Jul 1;124(Pt 13):2287-97. doi: 10.1242/jcs.083311. Epub 2011 Jun 7.

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