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Items: 1 to 20 of 90

1.

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'Guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P.

Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528.

PMID:
21542063
2.

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR.

Am J Hum Genet. 2006 Jan;78(1):63-77. Epub 2005 Nov 16.

3.

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.

Hum Genet. 2008 Mar;123(2):141-53. doi: 10.1007/s00439-007-0455-7. Epub 2008 Jan 3.

PMID:
18172693
4.

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PMID:
15580564
5.

HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1.

Irimura S, Kitamura K, Kato N, Saiki K, Takeuchi A, Gunadi, Matsuo M, Nishio H, Lee MJ.

Kobe J Med Sci. 2009 Mar 10;54(5):E227-36.

6.

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.

Martín Y, Valero A, del Castillo E, Pascual SI, Hernández-Chico C.

Hum Genet. 2002 Mar;110(3):257-63. Epub 2002 Feb 8.

PMID:
11935338
7.

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Yu-Jin Q, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.

BMC Med Genet. 2012 Sep 20;13:86. doi: 10.1186/1471-2350-13-86.

8.

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.

Liu WL, Li F, He ZX, Ai R, Ma HW.

Genet Mol Res. 2013 Sep 13;12(3):3598-604. doi: 10.4238/2013.September.13.4.

9.
10.

A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo.

Dickson A, Osman E, Lorson CL.

Hum Gene Ther. 2008 Nov;19(11):1307-15. doi: 10.1089/hgt.2008.067.

11.

An intronic element contributes to splicing repression in spinal muscular atrophy.

Kashima T, Rao N, Manley JL.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3426-31. Epub 2007 Feb 16.

12.

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.

Qu YJ, Bai JL, Cao YY, Zhang WH, Wang H, Jin YW, Song F.

Eur J Hum Genet. 2016 Jun;24(6):864-70. doi: 10.1038/ejhg.2015.213. Epub 2015 Sep 30.

13.

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.

Kashima T, Manley JL.

Nat Genet. 2003 Aug;34(4):460-3.

PMID:
12833158
14.

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.

Singh NN, Androphy EJ, Singh RN.

Biochem Biophys Res Commun. 2004 Mar 5;315(2):381-8.

PMID:
14766219
16.
17.

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Kang SH, Cho SI, Chae JH, Chung KN, Ra EK, Kim SY, Seong MW, Kim JY, Park SS.

Genet Test Mol Biomarkers. 2009 Aug;13(4):511-3. doi: 10.1089/gtmb.2008.0158.

PMID:
19663601
18.

The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene.

Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY.

Mol Cell Biol. 2008 Nov;28(22):6929-38. doi: 10.1128/MCB.01332-08. Epub 2008 Sep 15.

19.

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.

Hum Mutat. 2003 Aug;22(2):136-43.

PMID:
12872254
20.

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