| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Matthew D Mailman, John W Heinz, Audrey C Papp, Pamela J Snyder, Mary S Sedra, Brunhilde Wirth, Arthur H M Burghes, Thomas W Prio. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genetics in medicine : official journal of the American College of Medical Genetics. vol 4. issue 1. 2002-04-22. PMID:11839954. |
this study describes smn1 deletion frequency, carrier studies, and the effect of the modifying smn2 gene on the spinal muscular atrophy (sma) phenotype. |
2002-04-22 |
2023-08-12 |
Not clear |
| Shuji Ogino, Debra G B Leonard, Hanna Rennert, Robert B Wilso. Spinal muscular atrophy genetic testing experience at an academic medical center. The Journal of molecular diagnostics : JMD. vol 4. issue 1. 2002-03-28. PMID:11826188. |
approximately 94% of spinal muscular atrophy (sma) patients lack both copies of smn1 exon 7. |
2002-03-28 |
2023-08-12 |
Not clear |
| Wilfried Rossoll, Ann-Kathrin Kröning, Uta-Maria Ohndorf, Clemens Steegborn, Sibylle Jablonka, Michael Sendtne. Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Human molecular genetics. vol 11. issue 1. 2002-03-19. PMID:11773003. |
spinal muscular atrophy (sma), the most common hereditary motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (smn1) gene. |
2002-03-19 |
2023-08-12 |
mouse |
| C Andreassi, J Jarecki, J Zhou, D D Coovert, U R Monani, X Chen, M Whitney, B Pollok, M Zhang, E Androphy, A H Burghe. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Human molecular genetics. vol 10. issue 24. 2002-03-13. PMID:11734549. |
proximal spinal muscular atrophy (sma) is a common motor neuron disorder caused by mutation of the telomeric survival of motor neuron gene smn1. |
2002-03-13 |
2023-08-12 |
Not clear |
| Markus Feldkötter, Verena Schwarzer, Radu Wirth, Thomas F Wienker, Brunhilde Wirt. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. American journal of human genetics. vol 70. issue 2. 2002-02-26. PMID:11791208. |
quantitative analyses of smn1 and smn2 based on real-time lightcycler pcr: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. |
2002-02-26 |
2023-08-12 |
Not clear |
| Markus Feldkötter, Verena Schwarzer, Radu Wirth, Thomas F Wienker, Brunhilde Wirt. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. American journal of human genetics. vol 70. issue 2. 2002-02-26. PMID:11791208. |
spinal muscular atrophy (sma) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor neuron gene 1 (smn1). |
2002-02-26 |
2023-08-12 |
Not clear |
| Philip J Young, Patricia M Day, Jianhua Zhou, Elliot J Androphy, Glenn E Morris, Christian L Lorso. A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy. The Journal of biological chemistry. vol 277. issue 4. 2002-02-25. PMID:11704667. |
mutations in the smn1 (survival motor neuron 1) gene cause spinal muscular atrophy (sma). |
2002-02-25 |
2023-08-12 |
Not clear |
| J M Cobben, M de Visser, H Scheffe. [From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]. Nederlands tijdschrift voor geneeskunde. vol 145. issue 52. 2002-02-08. PMID:11793827. |
the majority of patients with hereditary proximal spinal muscular atrophy (sma) have a homozygous deletion of the survival motor neuron gene (smn1). |
2002-02-08 |
2023-08-12 |
Not clear |
| C J DiDonato, C L Lorson, Y De Repentigny, L Simard, C Chartrand, E J Androphy, R Kothar. Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing. Human molecular genetics. vol 10. issue 23. 2002-01-31. PMID:11726560. |
proximal spinal muscular atrophy (sma) is caused by mutations in the survival motor neuron gene (smn1). |
2002-01-31 |
2023-08-12 |
mouse |
| A S Glotov, A V Kiselev, T E Ivashchenko, V S Barano. [Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia]. Genetika. vol 37. issue 8. 2002-01-16. PMID:11642117. |
[analysis of deletional damage in smn1, smn2, and naip genes in patients with spinal muscular atrophy in the northwestern region of russia]. |
2002-01-16 |
2023-08-12 |
Not clear |
| S Ogino, D G Leonard, H Rennert, S Gao, R B Wilso. Heteroduplex formation in SMN gene dosage analysis. The Journal of molecular diagnostics : JMD. vol 3. issue 4. 2002-01-16. PMID:11687598. |
most spinal muscular atrophy patients lack both copies of smn1 exon 7 and most carriers have only one copy of smn1 exon 7. |
2002-01-16 |
2023-08-12 |
Not clear |
| 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 |