Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model
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Title
Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 19, Pages 4301-4313
Publisher
Oxford University Press (OUP)
Online
2012-07-05
DOI
10.1093/hmg/dds263
References
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Note: Only part of the references are listed.- Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders
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- (2011) Natalia N. Singh et al. RNA Biology
- Mice deficient in Mkp-1 develop more severe pulmonary hypertension and greater lung protein levels of arginase in response to chronic hypoxia
- (2010) Yi Jin et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy
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- Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy
- (2010) Thomas et al. Frontiers in Bioscience-Landmark
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- CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
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- A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
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- Emerging treatment options for spinal muscular atrophy
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- A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
- (2009) Myriam Vezain et al. HUMAN MUTATION
- Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy
- (2009) Hong Liu et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
- (2009) Dirk Bäumer et al. PLoS Genetics
- Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
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- SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
- (2008) Zhenxi Zhang et al. CELL
- Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
- (2008) Lars Brichta et al. HUMAN GENETICS
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