(Q47431781)

16 January 2018

title

Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells (English)

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16 January 2018

Christophe Mas

2

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Agnes Zvara

7

object named as

Agnes Zvara

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16 January 2018

author name string

Bernadett Boda

1

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16 January 2018

Catherine Giudicelli

3

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16 January 2018

Virginie Nepote

4

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16 January 2018

Fabien Guimiot

5

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16 January 2018

Béatrice Levacher

6

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16 January 2018

Miklos Santha

8

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16 January 2018

Isabelle LeGall

9

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16 January 2018

Michel Simonneau

10

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16 January 2018

publication date

1 September 2004

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16 January 2018

European Journal of Human Genetics

published in

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16 January 2018

volume

12

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16 January 2018

issue

9

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16 January 2018

page(s)

729-737

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16 January 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201217

exact match

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cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The molecular bases of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

SMN-mediated assembly of RNPs: a complex story

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The SMN genes are subject to transcriptional regulation during cellular differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

TRANSFAC: an integrated system for gene expression regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Cell type-specific expression of the mouse peripherin gene requires both upstream and intragenic sequences in transgenic mouse embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Fluorescence-activated cell analysis and sorting of viable mammalian cells based on beta-D-galactosidase activity after transduction of Escherichia coli lacZ

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The human genome browser at UCSC

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Gene targeting studies begin to reveal the function of neurofilament proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Segmental duplications: an 'expanding' role in genomic instability and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The genomic organization of the murine Pax 8 gene and characterization of its basal promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Mouse spinal cord in cell culture. I. Morphology and intrinsic neuronal electrophysiologic properties

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Sorting mechanisms of tau and MAP2 in neurons: suppressed axonal transit of MAP2 and locally regulated microtubule binding

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Differential induction of HNF-3 transcription factors during neuronal differentiation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Subcellular distribution of survival motor neuron (SMN) protein: possible involvement in nucleocytoplasmic and dendritic transport

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201217

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201217

1 reference

16 January 2018

1 reference

16 January 2018