| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. Genetika. vol 51. issue 9. 2015-12-16. PMID:26606804. |
[smn1 gene point mutations in type i-iv proximal spinal muscular atrophy patients with a single copy of smn1]. |
2015-12-16 |
2023-08-13 |
Not clear |
| Miho Maeda, Ashlee W Harris, Brewster F Kingham, Casey J Lumpkin, Lynn M Opdenaker, Suzanne M McCahan, Wenlan Wang, Matthew E R Butchbac. Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. PloS one. vol 9. issue 9. 2015-12-08. PMID:25191843. |
proximal spinal muscular atrophy (sma) is an early onset, autosomal recessive motor neuron disease caused by loss of or mutation in smn1 (survival motor neuron 1). |
2015-12-08 |
2023-08-13 |
mouse |
| Kushol Gupta, Renee Martin, Robert Sharp, Kathryn L Sarachan, Nisha S Ninan, Gregory D Van Duyn. Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes. The Journal of biological chemistry. vol 290. issue 33. 2015-12-08. PMID:26092730. |
deletions and mutations in the smn1 gene are associated with spinal muscular atrophy (sma), a devastating neurodegenerative disease that is the leading heritable cause of infant mortality. |
2015-12-08 |
2023-08-13 |
human |
| Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min X. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC musculoskeletal disorders. vol 16. 2015-12-07. PMID:25888055. |
molecular characterization and copy number of smn1, smn2 and naip in chinese patients with spinal muscular atrophy and unrelated healthy controls. |
2015-12-07 |
2023-08-13 |
Not clear |
| Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min X. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC musculoskeletal disorders. vol 16. 2015-12-07. PMID:25888055. |
spinal muscular atrophy (sma) is caused by smn1 dysfunction, and the copy number of smn2 and naip can modify the phenotype of sma. |
2015-12-07 |
2023-08-13 |
Not clear |
| Lyndsay M Murray, Ariane Beauvais, Kunal Bhanot, Rashmi Kothar. Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy. Neurobiology of disease. vol 49. 2015-11-10. PMID:22960106. |
spinal muscular atrophy (sma) is a devastating childhood motor neuron disease caused by mutations and deletions within the survival motor neuron 1 (smn1) gene. |
2015-11-10 |
2023-08-12 |
mouse |
| Qing Huo, Melis Kayikci, Philipp Odermatt, Kathrin Meyer, Olivia Michels, Smita Saxena, Jernej Ule, Daniel Schümperl. Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA biology. vol 11. issue 11. 2015-10-26. PMID:25692239. |
spinal muscular atrophy (sma) is caused by deletions or mutations in the survival motor neuron 1 (smn1) gene. |
2015-10-26 |
2023-08-13 |
mouse |
| Wenhui Zhang, Yanyan Cao, Fang Song, Yujin Qu, Jinli Bai, Yuwei Jin, Hong Wan. [Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA]. Zhonghua yi xue za zhi. vol 95. issue 6. 2015-10-22. PMID:25916779. |
[analysis of smn1 gene partial deletion of spinal muscular atrophy based on mlpa]. |
2015-10-22 |
2023-08-13 |
Not clear |
| John F Staropoli, Huo Li, Seung J Chun, Norm Allaire, Patrick Cullen, Alice Thai, Christina M Fleet, Yimin Hua, C Frank Bennett, Adrian R Krainer, Doug Kerr, Alexander McCampbell, Frank Rigo, John P Carull. Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7. Genomics. vol 105. issue 4. 2015-09-25. PMID:25645699. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by disruption of the survival motor neuron 1 (smn1) gene, partly compensated for by the paralogous gene smn2. |
2015-09-25 |
2023-08-13 |
mouse |
| Xiaoyang Gao, Yanling Teng, Jintao Luo, Liange Huang, Min Li, Zhuohua Zhang, Yong-Chao Ma, Long M. The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions. RNA biology. vol 11. issue 9. 2015-09-23. PMID:25483032. |
spinal muscular atrophy (sma), the most frequent human congenital motor neuron degenerative disease, is caused by loss-of-function mutations in the highly conserved survival motor neuron gene smn1. |
2015-09-23 |
2023-08-13 |
human |
| Dairong Feng, Yi Cheng, Yan Meng, Liping Zou, Shangzhi Huang, Jiuyong Xi. Multiple effects of curcumin on promoting expression of the exon 7-containing SMN2 transcript. Genes & nutrition. vol 10. issue 6. 2015-09-21. PMID:26386842. |
survival of motor neuron 2 (smn2) is a modifier gene for spinal muscular atrophy (sma), a neurodegenerative disease caused by insufficient smn protein mostly due to smn1 defect. |
2015-09-21 |
2023-08-13 |
Not clear |
| Pavle Vrebalov Cindro, Veselin Vrebalov Cindr. Genetic determination of motor neuron disease and neuropathy. Collegium antropologicum. vol 39. issue 1. 2015-09-18. PMID:26040103. |
spinal muscular atrophies (sma) are caused by mutations in the smn1 gene localized on chromosome 5q11. |
2015-09-18 |
2023-08-13 |
human |
| James Palacino, Susanne E Swalley, Cheng Song, Atwood K Cheung, Lei Shu, Xiaolu Zhang, Mailin Van Hoosear, Youngah Shin, Donovan N Chin, Caroline Gubser Keller, Martin Beibel, Nicole A Renaud, Thomas M Smith, Michael Salcius, Xiaoying Shi, Marc Hild, Rebecca Servais, Monish Jain, Lin Deng, Caroline Bullock, Michael McLellan, Sven Schuierer, Leo Murphy, Marcel J J Blommers, Cecile Blaustein, Frada Berenshteyn, Arnaud Lacoste, Jason R Thomas, Guglielmo Roma, Gregory A Michaud, Brian S Tseng, Jeffery A Porter, Vic E Myer, John A Tallarico, Lawrence G Hamann, Daniel Curtis, Mark C Fishman, William F Dietrich, Natalie A Dales, Rajeev Sivasankara. SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice. Nature chemical biology. vol 11. issue 7. 2015-08-26. PMID:26030728. |
spinal muscular atrophy (sma), which results from the loss of expression of the survival of motor neuron-1 (smn1) gene, represents the most common genetic cause of pediatric mortality. |
2015-08-26 |
2023-08-13 |
mouse |
| Nihayatus Sa'adah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Satoru Morikawa, Noriyuki Nishimura, Ahmad Hamim Sadewa, Indwiani Astuti, Sofia Mubarika Haryana, Toshio Saito, Kayoko Saito, Hisahide Nishi. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper. Clinical laboratory. vol 61. issue 5-6. 2015-08-17. PMID:26118191. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by mutation of the survival of the motor neuron 1 (smn1) gene. |
2015-08-17 |
2023-08-13 |
Not clear |
| Deborah L Stabley, Ashlee W Harris, Jennifer Holbrook, Nicholas J Chubbs, Kevin W Lozo, Thomas O Crawford, Kathryn J Swoboda, Vicky L Funanage, Wenlan Wang, William Mackenzie, Mena Scavina, Katia Sol-Church, Matthew E R Butchbac. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Molecular genetics & genomic medicine. vol 3. issue 4. 2015-08-06. PMID:26247043. |
smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr. |
2015-08-06 |
2023-08-13 |
human |
| Thomas Koed Doktor, Lisbeth Dahl Schrøder, Henriette Skovgaard Andersen, Sabrina Brøner, Anna Kitewska, Charlotte Brandt Sørensen, Brage Storstein Andrese. Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. PloS one. vol 9. issue 6. 2015-08-05. PMID:24892836. |
spinal muscular atrophy is caused by homozygous loss of smn1. |
2015-08-05 |
2023-08-13 |
mouse |
| Tomoto Yamamoto, Hideyuki Sato, Poh San Lai, Dian Kesumapramudya Nurputra, Nur Imma Fatimah Harahap, Satoru Morikawa, Noriyuki Nishimura, Takashi Kurashige, Tomohiko Ohshita, Hideki Nakajima, Hiroyuki Yamada, Yoshinobu Nishida, Soichiro Toda, Jun-Ichi Takanashi, Atsuko Takeuchi, Yumi Tohyama, Yuji Kubo, Kayoko Saito, Yasuhiro Takeshima, Masafumi Matsuo, Hisahide Nishi. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain & development. vol 36. issue 10. 2015-07-09. PMID:24359787. |
intragenic mutations in smn1 may contribute more significantly to clinical severity than smn2 copy numbers in some spinal muscular atrophy (sma) patients. |
2015-07-09 |
2023-08-12 |
Not clear |
| Tomoto Yamamoto, Hideyuki Sato, Poh San Lai, Dian Kesumapramudya Nurputra, Nur Imma Fatimah Harahap, Satoru Morikawa, Noriyuki Nishimura, Takashi Kurashige, Tomohiko Ohshita, Hideki Nakajima, Hiroyuki Yamada, Yoshinobu Nishida, Soichiro Toda, Jun-Ichi Takanashi, Atsuko Takeuchi, Yumi Tohyama, Yuji Kubo, Kayoko Saito, Yasuhiro Takeshima, Masafumi Matsuo, Hisahide Nishi. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain & development. vol 36. issue 10. 2015-07-09. PMID:24359787. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by deletion or intragenic mutation of smn1. |
2015-07-09 |
2023-08-12 |
Not clear |
| Masayuki Arakawa, Reiko Arakawa, Shinichi Tatsumi, Ryoko Aoki, Kayoko Saito, Akio Nomot. A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. Biochemical and biophysical research communications. vol 453. issue 3. 2015-07-08. PMID:25264200. |
spinal muscular atrophy (sma) is caused by mutations within the survival motor neuron 1 (smn1) gene. |
2015-07-08 |
2023-08-13 |
human |
| Natalia N Singh, Brian M Lee, Ravindra N Sing. Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions. Annals of the New York Academy of Sciences. vol 1341. 2015-06-22. PMID:25727246. |
loss of smn1 coupled with skipping of smn2 exon 7 causes spinal muscular atrophy (sma), a leading genetic disease associated with infant mortality. |
2015-06-22 |
2023-08-13 |
human |