| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jason H Williams, Rebecca C Schray, Carlyn A Patterson, Semira O Ayitey, Melanie K Tallent, Gordon J Lut. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 29. issue 24. 2009-07-17. PMID:19535574. |
spinal muscular atrophy (sma) is caused by homozygous mutation or deletion of the smn1 gene encoding survival of motor neuron (smn) protein, resulting in the selective loss of alpha-motor neurons. |
2009-07-17 |
2023-08-12 |
mouse |
| Chia-Yen Wu, Ilsa Gómez-Curet, Vicky L Funanage, Mena Scavina, Wenlan Wan. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent. BMC cell biology. vol 10. 2009-07-15. PMID:19445707. |
deletion or mutation(s) of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma). |
2009-07-15 |
2023-08-12 |
Not clear |
| Travis D Baughan, Alexa Dickson, Erkan Y Osman, Christian L Lorso. Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Human molecular genetics. vol 18. issue 9. 2009-07-14. PMID:19228773. |
spinal muscular atrophy (sma) is a motor neuron disease caused by the loss of survival motor neuron-1 (smn1). |
2009-07-14 |
2023-08-12 |
mouse |
| Maria Jedrzejowska, Michał Milewski, Janusz Zimowski, Janina Borkowska, Anna Kostera-Pruszczyk, Danuta Sielska, Marta Jurek, Irena Hausmanowa-Petrusewic. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta biochimica Polonica. vol 56. issue 1. 2009-06-19. PMID:19287802. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations of the smn1 gene. |
2009-06-19 |
2023-08-12 |
Not clear |
| Nadia Passon, Federico Pozzo, Cristiano Molinis, Elisa Bregant, Cinzia Gellera, Giuseppe Damante, Renata I Lonigr. A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genetic testing and molecular biomarkers. vol 13. issue 1. 2009-06-15. PMID:19309272. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused, in about 95% of sma cases, by homozygous deletion of the survival motor neuron 1 (smn1) gene or its conversion to the highly homologous smn2 gene. |
2009-06-15 |
2023-08-12 |
Not clear |
| Wan Jin Chen, Wan Juan Dong, Xiao Zhen Lin, Min Ting Lin, Shen Xing Murong, Zhi Ying Wu, Ning Wan. Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis. BMC medical genetics. vol 10. 2009-06-12. PMID:19480685. |
spinal muscular atrophy (sma) is an autosomal recessive hereditary disorder caused by mutations of the survival motor neuron 1 (smn1) gene. |
2009-06-12 |
2023-08-12 |
Not clear |
| Shay Ben-Shachar, Bhattacharjee M Bidwa, Lorraine Potocki, Seema R Lalan. Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. American journal of medical genetics. Part A. vol 149A. issue 3. 2009-04-16. PMID:19215052. |
based on the severity of hypotonia in this infant, molecular analysis for spinal muscular atrophy (sma) was performed and the common homozygous deletion of exon 7 in the survival of motor neuron 1 gene (smn1) was identified. |
2009-04-16 |
2023-08-12 |
Not clear |
| Yi-Ching Chen, Chung-Yee Yuo, Wen-Kuang Yang, Yuh-Jyh Jong, Hui-Hua Lin, Ya-Sian Chang, Jan-Gowth Chan. Extracellular pH change modulates the exon 7 splicing in SMN2 mRNA. Molecular and cellular neurosciences. vol 39. issue 2. 2009-04-08. PMID:18672065. |
spinal muscular atrophy (sma) is caused by homozygous deletions/mutations of smn1 gene. |
2009-04-08 |
2023-08-12 |
Not clear |
| Didem Dayangaç-Erden, Gamze Bora, Peruze Ayhan, Cetin Kocaefe, Sevim Dalkara, Kemal Yelekçi, Ayhan S Demir, Hayat Erdem-Yurte. Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. Chemical biology & drug design. vol 73. issue 3. 2009-04-02. PMID:19207472. |
spinal muscular atrophy is an autosomal recessive motor neuron disease that is caused by mutation of the survival motor neuron gene (smn1) but all patients retain a nearly identical copy, smn2. |
2009-04-02 |
2023-08-12 |
Not clear |
| Mafalda Martins de Araújo, Sophie Bonnal, Michelle L Hastings, Adrian R Krainer, Juan Valcárce. Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA (New York, N.Y.). vol 15. issue 4. 2009-04-01. PMID:19244360. |
spinal muscular atrophy is a prevalent genetic disease caused by mutation of the smn1 gene, which encodes the smn protein involved in assembly of small nuclear ribonucleoprotein (snrnp) complexes. |
2009-04-01 |
2023-08-12 |
Not clear |
| Karl B Shpargel, Kavita Praveen, T K Rajendra, A Gregory Mater. Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Molecular biology of the cell. vol 20. issue 1. 2009-03-27. PMID:18923150. |
loss-of-function mutations in human smn1 result in a neuromuscular disease called spinal muscular atrophy. |
2009-03-27 |
2023-08-12 |
human |
| Wan-jin Chen, Zhi-ying Wu, Ning Wang, Min-ting Lin, Shen-xing Mu-ron. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 22. issue 6. 2009-03-19. PMID:16331551. |
quantitative studies on smn1 gene and carrier testing of spinal muscular atrophy. |
2009-03-19 |
2023-08-12 |
Not clear |
| Wan-jin Chen, Zhi-ying Wu, Ning Wang, Min-ting Lin, Shen-xing Mu-ron. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 22. issue 6. 2009-03-19. PMID:16331551. |
to construct a method for detecting the copy number of survival of motor neuron 1 gene (smn1) with single copy difference based on real-time fluorescence quantitative pcr, and to make practical use of the method for acquiring the data on smn1 copy number in chinese as well as for screening the carriers of spinal muscular atrophy (sma) from healthy individuals and sma families. |
2009-03-19 |
2023-08-12 |
Not clear |
| Yu-hua Liang, Xiao-ling Chen, Zhong-sheng Yu, Chun-yue Chen, Sheng Bi, Lian-gen Mao, Bo-lin Zhou, Xian-ning Zhan. Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. Journal of Zhejiang University. Science. B. vol 10. issue 1. 2009-03-17. PMID:19198020. |
deletion analysis of smn1 and naip genes in southern chinese children with spinal muscular atrophy. |
2009-03-17 |
2023-08-12 |
Not clear |
| Barrington G Burnett, Eric Muñoz, Animesh Tandon, Deborah Y Kwon, Charlotte J Sumner, Kenneth H Fischbec. Regulation of SMN protein stability. Molecular and cellular biology. vol 29. issue 5. 2009-03-10. PMID:19103745. |
spinal muscular atrophy (sma) is caused by mutations of the survival of motor neuron (smn1) gene and deficiency of full-length smn protein (fl-smn). |
2009-03-10 |
2023-08-12 |
Not clear |
| Mei-juan Long, Fang Song, Yu-jin Qu, Yan Meng, Hong Wang, Yu-wei Jin, Shang-zhi Huan. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. Zhonghua yi xue za zhi. vol 88. issue 18. 2009-03-03. PMID:18844099. |
[quantitative analysis of smn1 and smn2 genes based on dhplc: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. |
2009-03-03 |
2023-08-12 |
Not clear |
| Kathrin Meyer, Julien Marquis, Judith Trüb, Rachel Nlend Nlend, Sonia Verp, Marc-David Ruepp, Hans Imboden, Isabelle Barde, Didier Trono, Daniel Schümperl. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Human molecular genetics. vol 18. issue 3. 2009-02-27. PMID:19010792. |
in spinal muscular atrophy (sma), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (smn1) is deleted or inactivated. |
2009-02-27 |
2023-08-12 |
mouse |
| Mohd Shamshudin Watihayati, Hayati Fatemeh, Marzuki Marini, Amin Baig Atif, Wan Mohd Zahiruddin, Teguh Haryo Sasongko, Thean Hock Tang, Z A M H Zabidi-Hussin, Hisahide Nishio, Bin Alwi Zilfali. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy. Brain & development. vol 31. issue 1. 2009-02-19. PMID:18842367. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the smn1 gene. |
2009-02-19 |
2023-08-12 |
Not clear |
| Michael P Walker, T K Rajendra, Luciano Saieva, Jennifer L Fuentes, Livio Pellizzoni, A Gregory Mater. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Human molecular genetics. vol 17. issue 21. 2009-02-10. PMID:18689355. |
spinal muscular atrophy (sma) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (smn1) gene. |
2009-02-10 |
2023-08-12 |
mouse |
| Jan Hauke, Markus Riessland, Sebastian Lunke, Ilker Y Eyüpoglu, Ingmar Blümcke, Assam El-Osta, Brunhilde Wirth, Eric Hahne. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Human molecular genetics. vol 18. issue 2. 2009-02-03. PMID:18971205. |
spinal muscular atrophy (sma), a common neuromuscular disorder, is caused by homozygous absence of the survival motor neuron gene 1 (smn1), while the disease severity is mainly influenced by the number of smn2 gene copies. |
2009-02-03 |
2023-08-12 |
human |