| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xingxing Wu, Shu-Huei Wang, Junjie Sun, Adrian R Krainer, Yimin Hua, Thomas W Prio. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Human molecular genetics. vol 26. issue 14. 2018-01-11. PMID:28460014. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by reduced expression of survival of motor neuron (smn), a protein expressed in humans by two paralogous genes, smn1 and smn2. |
2018-01-11 |
2023-08-13 |
Not clear |
| Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Eber. Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy. Human molecular genetics. vol 26. issue 17. 2018-01-11. PMID:28637335. |
spinal muscular atrophy (sma), the leading genetic cause of infant mortality, is caused by the loss of the survival motor neuron-1 (smn1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. |
2018-01-11 |
2023-08-13 |
mouse |
| Natalia N Singh, José Bruno Del Rio-Malewski, Diou Luo, Eric W Ottesen, Matthew D Howell, Ravindra N Sing. Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene. Nucleic acids research. vol 45. issue 21. 2017-12-26. PMID:28981879. |
spinal muscular atrophy (sma) is caused by deletions or mutations of the survival motor neuron 1 (smn1) gene coupled with predominant skipping of smn2 exon 7. |
2017-12-26 |
2023-08-13 |
Not clear |
| Sungwoon Choi, Alyssa N Calder, Eliza H Miller, Kierstyn P Anderson, Dawid K Fiejtek, Anne Rietz, Hongxia Li, Jonathan J Cherry, Kevin M Quist, Xuechao Xing, Marcie A Glicksman, Gregory D Cuny, Christian L Lorson, Elliot A Androphy, Kevin J Hodgett. Optimization of a series of heterocycles as survival motor neuron gene transcription enhancers. Bioorganic & medicinal chemistry letters. vol 27. issue 23. 2017-12-18. PMID:29103974. |
spinal muscular atrophy (sma) is a neurodegenerative disorder that results from mutations in the smn1 gene, leading to survival motor neuron (smn) protein deficiency. |
2017-12-18 |
2023-08-13 |
Not clear |
| Yoriko Noguchi, Akira Onishi, Yuji Nakamachi, Nobuhide Hayashi, Nur Imma Fatimah Harahap, Mawaddah Ar Rochmah, Ai Shima, Shinichiro Yanagisawa, Naoya Morisada, Taku Nakagawa, Kazumoto Iijima, Shimpei Kasagi, Jun Saegusa, Seiji Kawano, Masakazu Shinohara, Shinya Tairaku, Toshio Saito, Yuji Kubo, Kayoko Saito, Hisahide Nishi. Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations. Pediatric neurology. vol 58. 2017-12-14. PMID:27268759. |
most patients with spinal muscular atrophy lack the survival motor neuron 1 gene (smn1) in the telomeric region of the spinal muscular atrophy locus on chromosome 5q13. |
2017-12-14 |
2023-08-13 |
Not clear |
| Yu-Jin Qu, Lin Ge, Jin-Li Bai, Yan-Yan Cao, Yu-Wei Jin, Hong Wang, Lan Yang, Fang Son. p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation. Mutation research. vol 806. 2017-12-08. PMID:28950212. |
spinal muscular atrophy (sma) results from loss-of-function mutations in the survival of motor neuron 1 (smn1) gene. |
2017-12-08 |
2023-08-13 |
Not clear |
| Yu-Ting Tseng, Yuh-Jyh Jong, Wei-Fang Liang, Fang-Rong Chang, Yi-Ching L. The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein. Phytomedicine : international journal of phytotherapy and phytopharmacology. vol 34. 2017-11-30. PMID:28899515. |
deficiency of survival motor neuron (smn) protein, which is encoded by the smn1 and smn2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (sma). |
2017-11-30 |
2023-08-13 |
Not clear |
| Xianda Wei, Hu Tan, Pu Yang, Rui Zhang, Bo Tan, Yue Zhang, Libin Mei, Desheng Liang, Lingqian W. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data. Journal of genetic counseling. vol 26. issue 1. 2017-11-16. PMID:27422779. |
notable carrier risks for individuals having two copies of smn1 in spinal muscular atrophy families with 2-copy alleles: estimation based on chinese meta-analysis data. |
2017-11-16 |
2023-08-13 |
Not clear |
| Xianda Wei, Hu Tan, Pu Yang, Rui Zhang, Bo Tan, Yue Zhang, Libin Mei, Desheng Liang, Lingqian W. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data. Journal of genetic counseling. vol 26. issue 1. 2017-11-16. PMID:27422779. |
spinal muscular atrophy is an autosomal recessive neuromuscular disease mainly caused by homozygous deletion of smn1. |
2017-11-16 |
2023-08-13 |
Not clear |
| Ryan W O'Meara, Sarah E Cummings, Yves De Repentigny, Emily McFall, John-Paul Michalski, Marc-Olivier Deguise, Sabrina Gibeault, Rashmi Kothar. Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy. Human molecular genetics. vol 26. issue 2. 2017-09-20. PMID:28069797. |
the childhood neurodegenerative disease spinal muscular atrophy (sma) is caused by loss-of-function mutations or deletions in the survival motor neuron 1 (smn1) gene resulting in insufficient levels of survival motor neuron (smn) protein. |
2017-09-20 |
2023-08-13 |
mouse |
| Jiun-I Lai, Luke J Leman, Sherman Ku, Chris J Vickers, Christian A Olsen, Ana Montero, M Reza Ghadiri, Joel M Gottesfel. Cyclic tetrapeptide HDAC inhibitors as potential therapeutics for spinal muscular atrophy: Screening with iPSC-derived neuronal cells. Bioorganic & medicinal chemistry letters. vol 27. issue 15. 2017-08-18. PMID:28648462. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder that is caused by inactivating mutations in the survival of motor neuron 1 (smn1) gene, resulting in decreased smn protein expression. |
2017-08-18 |
2023-08-13 |
Not clear |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang, Yu-Wei Jin, Fang Son. A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26419278. |
a rare variant (c.863g>t) in exon 7 of smn1 disrupts mrna splicing and is responsible for spinal muscular atrophy. |
2017-07-26 |
2023-08-13 |
Not clear |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang, Yu-Wei Jin, Fang Son. A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26419278. |
proximal spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by deletion or mutation of smn1 (survival motor neuron 1). |
2017-07-26 |
2023-08-13 |
Not clear |
| Xin Zhao, Zhihua Feng, Karen K Y Ling, Anna Mollin, Josephine Sheedy, Shirley Yeh, Janet Petruska, Jana Narasimhan, Amal Dakka, Ellen M Welch, Gary Karp, Karen S Chen, Friedrich Metzger, Hasane Ratni, Francesco Lotti, Sarah Tisdale, Nikolai A Naryshkin, Livio Pellizzoni, Sergey Paushkin, Chien-Ping Ko, Marla Weetal. Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. Human molecular genetics. vol 25. issue 10. 2017-07-26. PMID:26931466. |
spinal muscular atrophy (sma) is caused by the loss or mutation of both copies of the survival motor neuron 1 (smn1) gene. |
2017-07-26 |
2023-08-13 |
mouse |
| Chung-Wei Yang, Chien-Lin Chen, Wei-Chun Chou, Ho-Chen Lin, Yuh-Jyh Jong, Li-Kai Tsai, Chun-Yu Chuan. An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy. PloS one. vol 11. issue 6. 2017-07-26. PMID:27331400. |
spinal muscular atrophy (sma) is an inherited neuromuscular disease resulting from a recessive mutation in the smn1 gene. |
2017-07-26 |
2023-08-13 |
mouse |
| Philipp Odermatt, Judith Trüb, Lavinia Furrer, Roger Fricker, Andreas Marti, Daniel Schümperl. Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing. Molecular therapy : the journal of the American Society of Gene Therapy. vol 24. issue 10. 2017-06-22. PMID:27456062. |
spinal muscular atrophy is due to the loss of smn1 gene function. |
2017-06-22 |
2023-08-13 |
mouse |
| Emmanuel Pinard, Luke Green, Michael Reutlinger, Marla Weetall, Nikolai A Naryshkin, John Baird, Karen S Chen, Sergey V Paushkin, Friedrich Metzger, Hasane Ratn. Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy. Journal of medicinal chemistry. vol 60. issue 10. 2017-06-19. PMID:28441483. |
spinal muscular atrophy (sma) is caused by mutation or deletion of the survival motor neuron 1 (smn1) gene, resulting in low levels of functional smn protein. |
2017-06-19 |
2023-08-13 |
mouse |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Hong Wang, Yu-Wei Jin, Juan Du, Xiu-Shan Ge, Wen-Hui Zhang, Yan Li, Sheng-Xi He, Fang Son. Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy. The Journal of molecular diagnostics : JMD. vol 18. issue 5. 2017-06-06. PMID:27425821. |
proximal spinal muscular atrophy (sma) is a common fatal autosomal recessive disorder caused by deletion or mutation of the survival of motor neuron 1 (smn1). |
2017-06-06 |
2023-08-13 |
Not clear |
| Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C Frank Bennett, Min Jeong Kye, Anne C Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirt. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. American journal of human genetics. vol 100. issue 2. 2017-05-04. PMID:28132687. |
homozygous smn1 loss causes spinal muscular atrophy (sma), the most common lethal genetic childhood motor neuron disease. |
2017-05-04 |
2023-08-13 |
Not clear |
| Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres-Benito, Raphael H Rastetter, Kristina Hupperich, Andrea Hoffmann, Natalia Mendoza-Ferreira, Anna Kaczmarek, Eva Janzen, Janine Milbradt, Tobias Lamkemeyer, Frank Rigo, C Frank Bennett, Christoph Guschlbauer, Ansgar Büschges, Matthias Hammerschmidt, Markus Riessland, Min Jeong Kye, Christoph S Clemen, Brunhilde Wirt. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. American journal of human genetics. vol 99. issue 3. 2017-05-02. PMID:27499521. |
homozygous loss of smn1 causes spinal muscular atrophy (sma), the most common and devastating childhood genetic motor-neuron disease. |
2017-05-02 |
2023-08-13 |
mouse |