| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Erkan Y Osman, Madeline R Miller, Kate L Robbins, Abby M Lombardi, Arleigh K Atkinson, Amanda J Brehm, Christian L Lorso. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24781211. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by the loss of survival motor neuron-1 (smn1). |
2015-04-23 |
2023-08-13 |
mouse |
| Chun-Chi Wang, Chi-Jen Shih, Yuh-Jyh Jong, Shou-Mei W. Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Analytica chimica acta. vol 833. 2015-04-20. PMID:24909772. |
universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting smn1 and smn2 genes in diagnosis of spinal muscular atrophy. |
2015-04-20 |
2023-08-13 |
human |
| Kentaro Sahashi, Gen Sobu. [The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics]. Brain and nerve = Shinkei kenkyu no shinpo. vol 66. issue 12. 2015-04-17. PMID:25475034. |
loss-of-function mutations in smn1 cause spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2015-04-17 |
2023-08-13 |
Not clear |
| Sara K Custer, Elliot J Androph. Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy. Molecular and cellular neurosciences. vol 61. 2015-04-15. PMID:24983518. |
one such disease is spinal muscular atrophy (sma), a genetic neuromuscular disorder caused by mutations in the smn1 gene resulting in low levels of survival motor neuron (smn) protein. |
2015-04-15 |
2023-08-13 |
Not clear |
| Jennifer L Taylor, Francis K Lee, Golriz Khadem Yazdanpanah, John F Staropoli, Mei Liu, John P Carulli, Chao Sun, Steven F Dobrowolski, W Harry Hannon, Robert F Vog. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clinical chemistry. vol 61. issue 2. 2015-04-08. PMID:25502182. |
spinal muscular atrophy (sma) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (smn1) gene. |
2015-04-08 |
2023-08-13 |
Not clear |
| Li-Ting Wang, Shyh-Shin Chiou, Yu-Mei Liao, Yuh-Jyh Jong, Shih-Hsien Hs. Survival of motor neuron protein downregulates miR-9 expression in patients with spinal muscular atrophy. The Kaohsiung journal of medical sciences. vol 30. issue 5. 2015-04-06. PMID:24751385. |
spinal muscular atrophy (sma) is a lethal hereditary disease caused by homozygous absence of the survival of the motor neuron (smn) 1 gene (smn1), and it is the leading genetic cause of infant mortality. |
2015-04-06 |
2023-08-13 |
mouse |
| Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong She. 3' Splice site sequences of spinal muscular atrophy related SMN2 pre-mRNA include enhancers for nearby exons. TheScientificWorldJournal. vol 2014. 2015-03-30. PMID:24616638. |
spinal muscular atrophy (sma) is a human genetic disease which occurs because of the deletion or mutation of smn1 gene. |
2015-03-30 |
2023-08-12 |
human |
| Kate L Robbins, Jacqueline J Glascock, Erkan Y Osman, Madeline R Miller, Christian L Lorso. Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Human molecular genetics. vol 23. issue 17. 2015-03-30. PMID:24722206. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by the loss of a single gene, survival motor neuron-1 (smn1). |
2015-03-30 |
2023-08-13 |
mouse |
| Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Son. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genetic testing and molecular biomarkers. vol 18. issue 8. 2015-03-30. PMID:25014214. |
subtle mutation detection of smn1 gene in chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for smn1 gene mutations. |
2015-03-30 |
2023-08-13 |
Not clear |
| Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Son. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genetic testing and molecular biomarkers. vol 18. issue 8. 2015-03-30. PMID:25014214. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by mutations of the survival of motor neuron 1 (smn1) gene. |
2015-03-30 |
2023-08-13 |
Not clear |
| Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, Michael L Rodriguez, Manoj P Menezes, Nigel F Clarke, Michaela Auer Grumbach, Simon L Bullock, Francesco Muntoni, Mary M Reilly, Kathryn N Nort. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a journal of neurology. vol 138. issue Pt 2. 2015-03-23. PMID:25497877. |
spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in smn1 on chromosome 5q. |
2015-03-23 |
2023-08-13 |
drosophila_melanogaster |