| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| James N Sleigh, Thomas H Gillingwater, Kevin Talbo. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Disease models & mechanisms. vol 4. issue 4. 2011-11-09. PMID:21708901. |
spinal muscular atrophy (sma), which is caused by inactivating mutations in the survival motor neuron 1 (smn1) gene, is characterized by loss of lower motor neurons in the spinal cord. |
2011-11-09 |
2023-08-12 |
mouse |
| Jingbo Xiao, Juan J Marugan, Wei Zheng, Steve Titus, Noel Southall, Jonathan J Cherry, Matthew Evans, Elliot J Androphy, Christopher P Austi. Discovery, synthesis, and biological evaluation of novel SMN protein modulators. Journal of medicinal chemistry. vol 54. issue 18. 2011-11-09. PMID:21819082. |
spinal muscular atrophy (sma) is an autosomal recessive disorder affecting the expression or function of survival motor neuron protein (smn) due to the homozygous deletion or rare point mutations in the survival motor neuron gene 1 (smn1). |
2011-11-09 |
2023-08-12 |
human |
| Sara Bernal, Eva Also-Rallo, Rebeca Martínez-Hernández, Laura Alías, Francisco Javier Rodríguez-Alvarez, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscular disorders : NMD. vol 21. issue 6. 2011-09-30. PMID:21546251. |
spinal muscular atrophy (sma) is caused by loss or mutations of the survival motor neuron 1 gene (smn1). |
2011-09-30 |
2023-08-12 |
Not clear |
| Qun Zhong, Smiti Bhattacharya, Steven Kotsopoulos, Jeff Olson, Valérie Taly, Andrew D Griffiths, Darren R Link, Jonathan W Larso. Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR. Lab on a chip. vol 11. issue 13. 2011-09-30. PMID:21584334. |
a 5-plex assay for spinal muscular atrophy was demonstrated with just two fluorophores to simultaneously measure the copy number of two genes (smn1 and smn2) and to genotype a single nucleotide polymorphism (c.815a>g, smn1). |
2011-09-30 |
2023-08-12 |
Not clear |
| Bikem Akten, Min Jeong Kye, Le T Hao, Mary H Wertz, Sasha Singh, Duyu Nie, Jia Huang, Tanuja T Merianda, Jeffery L Twiss, Christine E Beattie, Judith A J Steen, Mustafa Sahi. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 25. 2011-09-29. PMID:21652774. |
spinal muscular atrophy (sma), caused by the deletion of the smn1 gene, is the leading genetic cause of infant mortality. |
2011-09-29 |
2023-08-12 |
zebrafish |
| Galina Yu Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schiöth, Vladislav S Barano. Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. BMC medical genetics. vol 12. 2011-09-27. PMID:21762474. |
spinal muscular atrophy (sma type i, ii and iii) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (smn1). |
2011-09-27 |
2023-08-12 |
Not clear |
| Teguh Haryo Sasongko, Gunadi, Bin Alwi Zilfalil, Zamh Zabidi-Hussi. Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy. Journal of neurogenetics. vol 25. issue 1-2. 2011-09-08. PMID:21338334. |
deletion analysis of smn1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy. |
2011-09-08 |
2023-08-12 |
Not clear |
| Marco A Passini, Seng H Chen. Prospects for the gene therapy of spinal muscular atrophy. Trends in molecular medicine. vol 17. issue 5. 2011-08-30. PMID:21334976. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a deficiency of functional smn protein because of mutations in smn1. |
2011-08-30 |
2023-08-12 |
Not clear |
| Stuart J Grice, Ji-Long Li. Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila. PLoS genetics. vol 7. issue 4. 2011-08-18. PMID:21490958. |
spinal muscular atrophy is a severe neurogenic disease that is caused by mutations in the human survival motor neuron 1 (smn1) gene. |
2011-08-18 |
2023-08-12 |
human |
| Marta Bosch-Marcé, Claribel D Wee, Tara L Martinez, Celeste E Lipkes, Dong W Choe, Lingling Kong, James P Van Meerbeke, Antonio Musarò, Charlotte J Sumne. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Human molecular genetics. vol 20. issue 9. 2011-08-15. PMID:21325354. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (smn1) gene and deficiency of the smn protein. |
2011-08-15 |
2023-08-12 |
mouse |
| Chia-Yen Wu, Dosh Whye, Lisa Glazewski, Leila Choe, Douglas Kerr, Kelvin H Lee, Robert W Mason, Wenlan Wan. Proteomic assessment of a cell model of spinal muscular atrophy. BMC neuroscience. vol 12. 2011-06-21. PMID:21385431. |
deletion or mutation(s) of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. |
2011-06-21 |
2023-08-12 |
mouse |
| Marco A Passini, Jie Bu, Amy M Richards, Cathrine Kinnecom, S Pablo Sardi, Lisa M Stanek, Yimin Hua, Frank Rigo, John Matson, Gene Hung, Edward M Kaye, Lamya S Shihabuddin, Adrian R Krainer, C Frank Bennett, Seng H Chen. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science translational medicine. vol 3. issue 72. 2011-06-13. PMID:21368223. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the smn1 gene that result in a deficiency of smn protein. |
2011-06-13 |
2023-08-12 |
mouse |
| Zhaiyi Zhang, Olga Kelemen, Maria A van Santen, Sharon M Yelton, Alison E Wendlandt, Vitaliy M Sviripa, Mathieu Bollen, Monique Beullens, Henning Urlaub, Reinhard Lührmann, David S Watt, Stefan Stam. Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA. The Journal of biological chemistry. vol 286. issue 12. 2011-06-09. PMID:21220421. |
spinal muscular atrophy is caused by the loss of the smn1 (survival of motoneuron 1) gene. |
2011-06-09 |
2023-08-12 |
Not clear |
| Yu-jin QU, Juan DU, Er-zhen LI, Yan-ling YANG, Li-ping ZOU, Jin-li BAI, Hong WANG, Yu-wei JIN, Fang SON. [Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 28. issue 2. 2011-05-31. PMID:21462119. |
[point mutation analysis of smn1 gene in patients with spinal muscular atrophy]. |
2011-05-31 |
2023-08-12 |
Not clear |
| Yu-jin QU, Juan DU, Er-zhen LI, Yan-ling YANG, Li-ping ZOU, Jin-li BAI, Hong WANG, Yu-wei JIN, Fang SON. [Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 28. issue 2. 2011-05-31. PMID:21462119. |
to identify the point mutations in survival motor neuron gene 1 smn1 gene and confirm the existence of compound heterozygous mutations in chinese patients with spinal muscular atrophy (sma). |
2011-05-31 |
2023-08-12 |
Not clear |
| Shay Ben-Shachar, Avi Orr-Urtreger, Eyal Bardugo, Ruth Shomrat, Yuval Yaro. Large-scale population screening for spinal muscular atrophy: clinical implications. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 2. 2011-04-25. PMID:21233719. |
to determine the frequency of smn1 deletion carriers in the israeli population and to assess the feasibility of population screening for spinal muscular atrophy. |
2011-04-25 |
2023-08-12 |
Not clear |
| Hong Liu, Ariane Beauvais, Adam N Baker, Catherine Tsilfidis, Rashmi Kothar. Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy. Developmental neurobiology. vol 71. issue 2. 2011-04-18. PMID:20862739. |
we have used this model to study spinal muscular atrophy (sma), an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 gene (smn1). |
2011-04-18 |
2023-08-12 |
mouse |
| Xiao-Su Yang, Yi-Min Hu, Bo Xia. [Establishment of spinal muscular atrophy cell model by RNAi]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 33. issue 12. 2011-04-01. PMID:19141976. |
to establish spinal muscular atrophy (sma) cell model by blocking the expression of smn1 gene with shrna. |
2011-04-01 |
2023-08-12 |
Not clear |
| Thomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, Johan Palmfeldt, Henriette Skovgaard Andersen, Niels Gregersen, Brage Storstein Andrese. SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. Human mutation. vol 32. issue 2. 2011-03-24. PMID:21120954. |
spinal muscular atrophy is caused by homozygous loss of smn1 with phenotypic modulation by smn2. |
2011-03-24 |
2023-08-12 |
human |
| Thomas W Prio. Perspectives and diagnostic considerations in spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 12. issue 3. 2011-03-03. PMID:20057317. |
spinal muscular atrophy is caused by mutations in the telomeric copy of the survival motor neuron 1 (smn1) gene, but all patients retain a centromeric copy of the gene, smn2. |
2011-03-03 |
2023-08-12 |
Not clear |