(Q28277159)

1

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Sharlene R Lim

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Till Geib

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Bianca J Lam

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Klemens J Hertel

The genetic component in child mortality

5

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language of work or name

English

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publication date

December 2005

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published in

Molecular Therapy

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volume

12

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issue

6

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page(s)

1013-22

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Identification and characterization of a spinal muscular atrophy-determining gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Sorting out the complexity of SR protein functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

SMN oligomerization defect correlates with spinal muscular atrophy severity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

A novel nuclear structure containing the survival of motor neurons protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Correlation between severity and SMN protein level in spinal muscular atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Essential role for the SMN complex in the specificity of snRNP assembly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

snRNAs contain specific SMN-binding domains that are essential for snRNP assembly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Treatment of spinal muscular atrophy by sodium butyrate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

The role of histone acetylation in SMN gene expression.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Correction of disease-associated exon skipping by synthetic exon-specific activators

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Formation of the 3' end of histone mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Assembly, nuclear import and function of U7 snRNPs studied by microinjection of synthetic U7 RNA into Xenopus oocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Antisense-mediated redirection of mRNA splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Improved free-energy parameters for predictions of RNA duplex stability

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Implications of ribozyme kinetics for targeting the cleavage of specific RNA molecules in vivo: more isn't always better

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human beta-thalassemic mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022

DNA cloning without restriction enzyme and ligase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.022