| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elizabeth C Wolstencroft, Virginia Mattis, Anna A Bajer, Philip J Young, Christian L Lorso. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Human molecular genetics. vol 14. issue 9. 2005-07-21. PMID:15790598. |
spinal muscular atrophy (sma) is caused by homozygous loss of the survival motor neuron (smn1) gene. |
2005-07-21 |
2023-08-12 |
Not clear |
| A H M Lai, E S Tan, H Y Law, C S Yoon, I S L N. SMN1 deletions among singaporean patients with spinal muscular atrophy. Annals of the Academy of Medicine, Singapore. vol 34. issue 1. 2005-06-09. PMID:15726222. |
smn1 deletions among singaporean patients with spinal muscular atrophy. |
2005-06-09 |
2023-08-12 |
Not clear |
| Natalia N Singh, Elliot J Androphy, Ravindra N Sing. The regulation and regulatory activities of alternative splicing of the SMN gene. Critical reviews in eukaryotic gene expression. vol 14. issue 4. 2005-05-26. PMID:15663357. |
spinal muscular atrophy (sma), the second most common autosomal recessive disorder, is caused by the absence of or mutations in the survival motor neuron 1 (smn1) gene, which encodes an essential protein. |
2005-05-26 |
2023-08-12 |
Not clear |
| Carolina Soler-Botija, Ivón Cuscó, Lídia Caselles, Eva López, Montserrat Baiget, Eduardo F Tizzan. Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? Journal of neuropathology and experimental neurology. vol 64. issue 3. 2005-05-09. PMID:15804053. |
spinal muscular atrophy (sma) is caused by mutations in the survival motor neuron gene 1 (smn1). |
2005-05-09 |
2023-08-12 |
Not clear |
| Mitchell R Lunn, David E Root, Allison M Martino, Stephen P Flaherty, Brian P Kelley, Daniel D Coovert, Arthur H Burghes, Nguyen Thi Man, Glenn E Morris, Jianhua Zhou, Elliot J Androphy, Charlotte J Sumner, Brent R Stockwel. Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chemistry & biology. vol 11. issue 11. 2005-04-25. PMID:15555999. |
most patients with the pediatric neurodegenerative disease spinal muscular atrophy have a homozygous deletion of the survival motor neuron 1 (smn1) gene, but retain one or more copies of the closely related smn2 gene. |
2005-04-25 |
2023-08-12 |
Not clear |
| Tae-Mi Lee, Sang-Wun Kim, Kwang-Soo Lee, Hyun-Seok Jin, Soo Kyung Koo, Inho Jo, Seongman Kang, Sung-Chul Jun. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. Journal of Korean medical science. vol 19. issue 6. 2005-04-21. PMID:15608400. |
spinal muscular atrophy (sma) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (smn1) in approximately 94% of patients. |
2005-04-21 |
2023-08-12 |
Not clear |
| Laxman Gangwani, Richard A Flavell, Roger J Davi. ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies. Molecular and cellular biology. vol 25. issue 7. 2005-04-19. PMID:15767679. |
mutation of the survival motor neurons 1 (smn1) gene causes motor neuron apoptosis and represents the major cause of spinal muscular atrophy in humans. |
2005-04-19 |
2023-08-12 |
mouse |
| Shuji Ogino, Robert B Wilson, Bert Gol. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. European journal of human genetics : EJHG. vol 12. issue 12. 2005-03-24. PMID:15470363. |
most spinal muscular atrophy patients lack both copies of smn1. |
2005-03-24 |
2023-08-12 |
human |
| Thomas W Prior, Kathryn J Swoboda, H Denman Scott, Ashley Q Hejmanowsk. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. American journal of medical genetics. Part A. vol 130A. issue 3. 2005-02-08. PMID:15378550. |
spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by the homozygous loss of the smn1 gene. |
2005-02-08 |
2023-08-12 |
Not clear |
| I Cuscó, M Jesus Barceló, E del Río, M Baiget, E F Tizzan. Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology. vol 63. issue 1. 2004-12-21. PMID:15249625. |
the authors present a complete smn gene analysis in four type i unrelated spinal muscular atrophy patients who retained one copy of the smn1 gene. |
2004-12-21 |
2023-08-12 |
Not clear |
| Jérémie M Vitte, Bénédicte Davoult, Natacha Roblot, Michèle Mayer, Vandana Joshi, Sabrina Courageot, François Tronche, Jacqueline Vadrot, Marie Helene Moreau, François Kemeny, Judith Melk. Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. The American journal of pathology. vol 165. issue 5. 2004-12-17. PMID:15509541. |
spinal muscular atrophy (sma) is characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron 1 gene (smn1). |
2004-12-17 |
2023-08-12 |
mouse |
| Vivian Chan, Ben Yip, Irene Yam, Patrick Au, Che-Kit Lin, Virginia Wong, Tai-Kwong Cha. Carrier incidence for spinal muscular atrophy in southern Chinese. Journal of neurology. vol 251. issue 9. 2004-12-13. PMID:15372251. |
this allows the accurate determination of carriers for spinal muscular atrophy (sma), with one copy of smn1. |
2004-12-13 |
2023-08-12 |
Not clear |
| Ruliang Xu, Shuji Ogino, Va Lip, Hong Fang, Bai-Lin W. Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000803. |
pcr-based methods for the detection of homozygous deletion of exon 7 of the smn1 gene have been widely used in genetic testing for spinal muscular atrophy (sma). |
2004-10-21 |
2023-08-12 |
Not clear |
| Mehmet Simsek, Talal Al-Bulushi, Muralitharan Shanmugakonar, Hameeda S Al-Barwani, Riad Bayoum. Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000810. |
there are two highly homologous survival motor neuron (smn) genes in humans but molecular defects in the smn1 gene cause spinal muscular atrophy (sma). |
2004-10-21 |
2023-08-12 |
Not clear |
| Mira Malcov, Tamar Schwartz, Nava Mei-Raz, Dalit Ben Yosef, Ami Amit, Joseph B Lessing, Ruth Shomrat, Avi Orr-Urtreger, Yuval Yaro. Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. Fetal diagnosis and therapy. vol 19. issue 2. 2004-09-28. PMID:14764971. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused in most patients by homozygous deletion of the smn1 gene. |
2004-09-28 |
2023-08-12 |
Not clear |
| Natalia N Singh, Elliot J Androphy, Ravindra N Sing. In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (New York, N.Y.). vol 10. issue 8. 2004-08-27. PMID:15272122. |
in spinal muscular atrophy (sma), smn2 is not able to compensate for the loss of smn1 due to an inhibitory mutation at position 6 (c6u mutation in transcript) of exon 7. |
2004-08-27 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Spinal muscular atrophy: molecular genetics and diagnostics. Expert review of molecular diagnostics. vol 4. issue 1. 2004-08-13. PMID:14711346. |
spinal muscular atrophy is caused by a deficiency of the ubiquitous protein survival of motor neuron (smn), which is encoded by the smn genes, smn1 and smn2. |
2004-08-13 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Spinal muscular atrophy: molecular genetics and diagnostics. Expert review of molecular diagnostics. vol 4. issue 1. 2004-08-13. PMID:14711346. |
common pcr-restriction fragment length polymorphism assays can detect the homozygous absence of smn1 in approximately 94% of patients with clinically typical spinal muscular atrophy. |
2004-08-13 |
2023-08-12 |
Not clear |
| Bernard Echenne, François Rivier, Agathe Roubertie, Nancy L Carso. Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion. Journal of child neurology. vol 19. issue 3. 2004-08-03. PMID:15119481. |
a homozygous deletion of exons 7 and 8 of the survival of motor neuron 1, telomeric (smn1) gene was found, without neuronal apoptosis inhibitory protein (naip) gene deletion, leading to the diagnosis of spinal muscular atrophy. |
2004-08-03 |
2023-08-12 |
Not clear |
| Duc Bach Nguyen, Ahmad Hamin Sadewa, Yasuhiro Takeshima, Retno Sutomo, Van Khanh Tran, Thi Ngoc Dao Nguyen, Thi Hoan Nguyen, Chi Dung Vu, Diem Hong Dang, Yosuke Harada, Hisahide Nishio, Masafumi Matsu. Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy. The Kobe journal of medical sciences. vol 49. issue 3-4. 2004-06-29. PMID:14676483. |
deletion of the smn1 and naip genes in vietnamese patients with spinal muscular atrophy. |
2004-06-29 |
2023-08-12 |
Not clear |