An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA (Q28204816)

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C L Lorson

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E J Androphy

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J Zhou

Identification and characterization of a spinal muscular atrophy-determining gene

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language of work or name

English

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publication date

October 2001

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published in

Gene Therapy

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volume

8

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issue

20

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page(s)

1532-8

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cites work

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Structure and organization of the human survival motor neurone (SMN) gene

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When is a deletion not a deletion? When it is converted

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Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron.

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Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

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Spinal muscular atrophy

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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

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A mouse model for spinal muscular atrophy

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

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The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements

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Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

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Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 January 2018

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

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Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

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Bipotent progenitor cell lines from the human CNS.

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Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

21 January 2018

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The MKK(3/6)-p38-signaling cascade alters the subcellular distribution of hnRNP A1 and modulates alternative splicing regulation

21 January 2018

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Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

21 January 2018

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7 January 2021

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

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7 January 2021

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

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7 January 2021

Differential SMN2 expression associated with SMA severity

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7 January 2021

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

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7 January 2021

Terminal exon definition occurs cotranscriptionally and promotes termination of RNA polymerase II

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7 January 2021

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

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7 January 2021