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SMN2 gene
Known as:
survival of motor neuron 2, centromeric
, tudor domain containing 16B
, SMNC
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This gene plays a role in the modulation of spliceosome formation.
National Institutes of Health
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Related topics
Related topics
6 relations
RNA Splicing
SMN1 gene
SMN2 protein, human
SMN2 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels
J. Cherry
,
C. DiDonato
,
+22 authors
M. A. Tones
PLoS ONE
2017
Corpus ID: 23450727
C5-substituted 2,4-diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS (DAQ-DcpSi) have been developed for the…
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2015
2015
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals
L. Heesen
,
M. Peitz
,
+15 authors
B. Wirth
Cellular and Molecular Life Sciences
2015
Corpus ID: 253598954
Spinal muscular atrophy (SMA) is a devastating motoneuron (MN) disorder caused by homozygous loss of SMN1. Rarely, SMN1-deleted…
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2013
2013
Molecular analysis of SMN 1 , SMN 2 , NAIP , GTF 2 H 2 , and H 4 F 5 genes in 157 Chinese patients with spinal muscular atrophy ☆
Jin He
,
Qi-Jie Zhang
,
+6 authors
Wan-Jin Chen
2013
Corpus ID: 26404463
Abbreviations: DHPLC, denaturing high-performance l general transcription factor IIH, polypeptide 2 gene;H4F5, h or 1000 bp; MLPA…
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2012
2012
Regulation of Alternative Splicing in Drosophila melanogaster
J. Taliaferro
2012
Corpus ID: 86004237
Author(s): Taliaferro, Jefferson Matthew | Advisor(s): Rio, Donald C | Abstract: The patterns and mechanisms by which eukaryotic…
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2006
2006
Effects of valproic acid on expression of SMN2 mRNA in neuron-like cells derived from patients with spinal muscular atrophy
B. Xiao
2006
Corpus ID: 87072969
Objective To study the effects of valproic acid (VPA) to the expression of SMN2 mRNA in neuron-like cells (NLCs) derived from…
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2005
2005
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy : three SMN2 copies fail to rescue some patients from the disease severity
原田 陽介
2005
Corpus ID: 76415211
2005
2005
Correlation between SMN2 copies and the phenotype of spinal muscular atrophy
陈万金
,
吴志英
,
王柠
,
林珉婷
,
慕容慎行
2005
Corpus ID: 221196799
目的 探讨运动神经元生存基因2(SMN2)拷贝数与临床表型的关系,进一步阐明脊髓性肌萎缩症(SMA)的发病机制.方法采用实时荧光定量聚合酶链反应(PCR)技术特异性扩增50名健康人、51例临床确诊SMA患者SMN2基因7号外显子及其邻近区域,并以已确定只有3…
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2004
2004
Neuromuskuläre Erkrankungen (NME)
U. Schara
,
W. Mortier
Monatsschrift Kinderheilkunde
2004
Corpus ID: 25562738
ZusammenfassungTraditionell sind Muskeldystrophien (MD) progressive, hereditäre und primär degenerative Myopathien; aufgrund…
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2004
2004
Use of antisense oligonucleotides to enhance exon 7 incorporation in the pre-mRNA splicing of SMN2
C. Singh
,
Travis D. Baughan
,
C. Lorson
2004
Corpus ID: 90232951
2000
2000
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
C. Helmken
,
B. Wirth
Human Genetics
2000
Corpus ID: 30528707
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations of the survival motor neuron gene 1…
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