446 related articles for article (PubMed ID: 18172693)
1. 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. PubMed ID: 18172693
[TBL] [Abstract][Full Text] [Related]
2. p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.
Qu YJ; Ge L; Bai JL; Cao YY; Jin YW; Wang H; Yang L; Song F
Mutat Res; 2017 Dec; 806():31-38. PubMed ID: 28950212
[TBL] [Abstract][Full Text] [Related]
3. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
Bai J; Qu Y; Cao Y; Yang L; Ge L; Jin Y; Wang H; Song F
Gene; 2018 Feb; 644():49-55. PubMed ID: 29080838
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15580564
[TBL] [Abstract][Full Text] [Related]
5. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
Yuo CY; Lin HH; Chang YS; Yang WK; Chang JG
Ann Neurol; 2008 Jan; 63(1):26-34. PubMed ID: 17924536
[TBL] [Abstract][Full Text] [Related]
6. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B; Herz M; Wetter A; Moskau S; Hahnen E; Rudnik-Schöneborn S; Wienker T; Zerres K
Am J Hum Genet; 1999 May; 64(5):1340-56. PubMed ID: 10205265
[TBL] [Abstract][Full Text] [Related]
7. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?
Heier CR; Gogliotti RG; DiDonato CJ
J Child Neurol; 2007 Aug; 22(8):1013-8. PubMed ID: 17761657
[TBL] [Abstract][Full Text] [Related]
8. Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts.
Mattis VB; Rai R; Wang J; Chang CW; Coady T; Lorson CL
Hum Genet; 2006 Nov; 120(4):589-601. PubMed ID: 16951947
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
10. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E; Hedvicáková P; Kozák L; Vondrácek P; Gaillyová R; Maríková T; Kalina Z; Jüttnerová V; Fajkus J; Fajkusová L
Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
[TBL] [Abstract][Full Text] [Related]
11. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.
Zhang M; Lin Y; Zhang X; Lan F; Zeng J
Clin Chim Acta; 2022 May; 530():45-49. PubMed ID: 35248528
[TBL] [Abstract][Full Text] [Related]
12. Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.
Dastur RS; Gaitonde PS; Khadilkar SV; Udani VP; Nadkarni JJ
Neurol India; 2006 Sep; 54(3):255-9. PubMed ID: 16936383
[TBL] [Abstract][Full Text] [Related]
13. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Lorson CL; Hahnen E; Androphy EJ; Wirth B
Proc Natl Acad Sci U S A; 1999 May; 96(11):6307-11. PubMed ID: 10339583
[TBL] [Abstract][Full Text] [Related]
14. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.
Riessland M; Brichta L; Hahnen E; Wirth B
Hum Genet; 2006 Aug; 120(1):101-10. PubMed ID: 16724231
[TBL] [Abstract][Full Text] [Related]
15. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
Cartegni L; Krainer AR
Nat Genet; 2002 Apr; 30(4):377-84. PubMed ID: 11925564
[TBL] [Abstract][Full Text] [Related]
16. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J
J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293
[TBL] [Abstract][Full Text] [Related]
17. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
DiMatteo D; Callahan S; Kmiec EB
Exp Cell Res; 2008 Feb; 314(4):878-86. PubMed ID: 18078930
[TBL] [Abstract][Full Text] [Related]
18. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
Wolstencroft EC; Mattis V; Bajer AA; Young PJ; Lorson CL
Hum Mol Genet; 2005 May; 14(9):1199-210. PubMed ID: 15790598
[TBL] [Abstract][Full Text] [Related]
19. Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.
Singh NK; Singh NN; Androphy EJ; Singh RN
Mol Cell Biol; 2006 Feb; 26(4):1333-46. PubMed ID: 16449646
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O; Burlet P; Benit P; Chanterau D; Saugier-Veber P; Munnich A; Cusin V
Hum Mutat; 2004 Nov; 24(5):417-27. PubMed ID: 15459957
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]