| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S R Lim, K J Herte. Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing. The Journal of biological chemistry. vol 276. issue 48. 2002-01-10. PMID:11584013. |
spinal muscular atrophy is caused by the loss of functional survival motor neuron (smn1) alleles. |
2002-01-10 |
2023-08-12 |
Not clear |
| K Jin, X O Mao, M W Eshoo, T Nagayama, M Minami, R P Simon, D A Greenber. Microarray analysis of hippocampal gene expression in global cerebral ischemia. Annals of neurology. vol 50. issue 1. 2001-12-14. PMID:11456315. |
to test the hypothesis that genes identified through this approach might have roles in the pathophysiology of cerebral ischemia, we measured expression of the products of two induced genes not heretofore implicated in cerebral ischemia-grb2, an adapter protein involved in growth-factor signaling pathways, and smn1, which participates in rna processing and is deleted in most cases of spinal muscular atrophy. |
2001-12-14 |
2023-08-12 |
human |
| C H Tsai, Y J Jong, C J Hu, C M Chen, M C Shih, C P Chang, J G Chan. Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. Journal of the neurological sciences. vol 190. issue 1-2. 2001-12-07. PMID:11574104. |
mutations of the telomeric survival motor neuron gene (smn1) are related to spinal muscular atrophy (sma). |
2001-12-07 |
2023-08-12 |
Not clear |
| M D Hebert, P W Szymczyk, K B Shpargel, A G Mater. Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. Genes & development. vol 15. issue 20. 2001-12-07. PMID:11641277. |
spinal muscular atrophy (sma) is a genetic disorder caused by mutations in the human survival of motor neuron 1 gene, smn1. |
2001-12-07 |
2023-08-12 |
mouse |
| M L Zhang, C L Lorson, E J Androphy, J Zho. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene therapy. vol 8. issue 20. 2001-12-07. PMID:11704813. |
spinal muscular atrophy (sma) is a degenerative motor neuron disorder resulting from homozygous loss of the smn1 gene. |
2001-12-07 |
2023-08-12 |
Not clear |
| T Diep Tran, T Kroepfl, M Saito, M Nagura, H Ichiseki, M Kubota, T Toda, Y Sakakihar. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain & development. vol 23. issue 5. 2001-10-11. PMID:11504604. |
homozygous deletion of exons 7 and 8 of smn1 is responsible for spinal muscular atrophy. |
2001-10-11 |
2023-08-12 |
Not clear |
| T Diep Tran, T Kroepfl, M Saito, M Nagura, H Ichiseki, M Kubota, T Toda, Y Sakakihar. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain & development. vol 23. issue 5. 2001-10-11. PMID:11504604. |
in spinal muscular atrophy patients, smn2 partially compensates for the lack of smn1. |
2001-10-11 |
2023-08-12 |
Not clear |
| T Diep Tran, T Kroepfl, M Saito, M Nagura, H Ichiseki, M Kubota, T Toda, Y Sakakihar. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain & development. vol 23. issue 5. 2001-10-11. PMID:11504604. |
previously, we reported the relatively high incidence of a large deletion including the smn1 region in japanese spinal muscular atrophy type i patients. |
2001-10-11 |
2023-08-12 |
Not clear |
| T Diep Tran, T Kroepfl, M Saito, M Nagura, H Ichiseki, M Kubota, T Toda, Y Sakakihar. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain & development. vol 23. issue 5. 2001-10-11. PMID:11504604. |
among 15 carriers (14 parents and one carrier sibling of japanese type i spinal muscular atrophy patients with homozygous deletion of exons 7 and 8 of smn1), we found that the smn1/smn2 ratio was 0.5 or 1 in 11 (73.3%) carriers. |
2001-10-11 |
2023-08-12 |
Not clear |
| K Grohmann, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, E Bertini, H Leonhardt-Horti, F Muntoni, R Ouvrier, A Pfeufer, R Rossi, L Van Maldergem, J M Wilmshurst, T F Wienker, M Sendtner, S Rudnik-Schöneborn, K Zerres, C Hübne. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature genetics. vol 29. issue 1. 2001-09-27. PMID:11528396. |
classic spinal muscular atrophy (sma) is caused by mutations in the telomeric copy of smn1. |
2001-09-27 |
2023-08-12 |
mouse |
| H Schmalbruch, G Haas. Spinal muscular atrophy: present state. Brain pathology (Zurich, Switzerland). vol 11. issue 2. 2001-08-02. PMID:11303798. |
spinal muscular atrophy (sma) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the smn1 gene on chr.5q13. |
2001-08-02 |
2023-08-12 |
mouse |
| S Srivastava, M Mukherjee, I Panigrahi, G Shanker Pandey, S Pradhan, B Mitta. SMN2-deletion in childhood-onset spinal muscular atrophy. American journal of medical genetics. vol 101. issue 3. 2001-07-26. PMID:11424133. |
although deletions of smn1 are frequently reported in childhood-onset spinal muscular atrophy (sma), smn2 have been found to be intact in patients with the disorder. |
2001-07-26 |
2023-08-12 |
human |
| C Cisterni, S Kallenbach, F Jordier, C Bagnis, B Pettman. Death of motoneurons induced by trophic deprivation or by excitotoxicity is not prevented by overexpression of SMN. Neurobiology of disease. vol 8. issue 2. 2001-07-12. PMID:11300720. |
the telomeric copy of the survival motor neuron gene (smn1) is deleted or mutated in all spinal muscular atrophy (sma) patients and these patients present mainly a loss in spinal motoneurons. |
2001-07-12 |
2023-08-12 |
Not clear |
| V Sossi, A Giuli, T Vitali, F Tiziano, M Mirabella, A Antonelli, G Neri, C Brah. Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. European journal of human genetics : EJHG. vol 9. issue 2. 2001-06-28. PMID:11313744. |
autosomal recessive spinal muscular atrophy (sma) is a common motor neuron disease caused by absence or mutation in the survival motor neuron (smn1) gene. |
2001-06-28 |
2023-08-12 |
Not clear |
| A R Kelter, J Herchenbach, B Wirt. The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1. Genomics. vol 70. issue 3. 2001-06-07. PMID:11161782. |
the transcription factor-like nuclear regulator (tfnr) is a novel human gene that maps on 5q13, distal to the duplicated region that includes smn1, the spinal muscular atrophy (sma) determining gene. |
2001-06-07 |
2023-08-12 |
human |
| C F Rochette, N Gilbert, L R Simar. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Human genetics. vol 108. issue 3. 2001-05-31. PMID:11354640. |
the spinal muscular atrophy (sma) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (smn1) gene cause sma, a common lethal childhood neuropathy. |
2001-05-31 |
2023-08-12 |
human |
| D A Kerr, J P Nery, R J Traystman, B N Chau, J M Hardwic. Survival motor neuron protein modulates neuron-specific apoptosis. Proceedings of the National Academy of Sciences of the United States of America. vol 97. issue 24. 2001-05-24. PMID:11078511. |
spinal muscular atrophy (sma) is attributed to mutations in the smn1 gene, leading to loss of spinal cord motor neurons. |
2001-05-24 |
2023-08-12 |
mouse |
| L Gangwani, M Mikrut, S Theroux, M Sharma, R J Davi. Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Nature cell biology. vol 3. issue 4. 2001-05-21. PMID:11283611. |
this process is disrupted in cells from patients with werdnig-hoffman syndrome (spinal muscular atrophy type i) that have smn1 mutations. |
2001-05-21 |
2023-08-12 |
mouse |
| E Dodds, M G Dunckley, R G Roberts, F Muntoni, C E Sha. Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution. FEBS letters. vol 495. issue 1-2. 2001-05-21. PMID:11322942. |
homozygous mutations of the telomeric survival motor neurone gene (smn1) cause spinal muscular atrophy (sma). |
2001-05-21 |
2023-08-12 |
human |
| M D Mailman, T Hemingway, R L Darsey, C E Glasure, Y Huang, R B Chadwick, J W Heinz, A C Papp, P J Snyder, M S Sedra, R W Schafer, D N Abuelo, E W Reich, K S Theil, A H Burghes, A de la Chapelle, T W Prio. Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Human genetics. vol 108. issue 2. 2001-04-12. PMID:11281448. |
hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (sma) carrier with two smn1 copies on one chromosome. |
2001-04-12 |
2023-08-12 |
human |