| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C Helmken, A Wetter, S Rudnik-Schöneborn, T Liehr, K Zerres, B Wirt. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). European journal of human genetics : EJHG. vol 8. issue 7. 2000-10-26. PMID:10909848. |
approximately 96% of patients with autosomal recessive spinal muscular atrophy (sma) show mutations in the smn1 gene, while about 4% fail to show any mutation, despite a typical sma phenotype. |
2000-10-26 |
2023-08-12 |
Not clear |
| Y Hofmann, C L Lorson, S Stamm, E J Androphy, B Wirt. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proceedings of the National Academy of Sciences of the United States of America. vol 97. issue 17. 2000-09-19. PMID:10931943. |
spinal muscular atrophy (sma), a common motor neuron disease in humans, results from loss of functional survival motor neuron (smn1) alleles. |
2000-09-19 |
2023-08-12 |
mouse |
| S Savas, N Gokgoz, H Kayserili, F Ozkinay, M Yuksel-Apak, B Kirda. Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients. Human heredity. vol 50. issue 3. 2000-05-25. PMID:10686493. |
deletions of the spinal muscular atrophy (sma)-determining gene, smn1, naip, and a third multicopy gene, btf2p44tel were investigated in 60 unrelated turkish sma patients. |
2000-05-25 |
2023-08-12 |
Not clear |
| B Wirt. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Human mutation. vol 15. issue 3. 2000-05-04. PMID:10679938. |
an update of the mutation spectrum of the survival motor neuron gene (smn1) in autosomal recessive spinal muscular atrophy (sma). |
2000-05-04 |
2023-08-12 |
Not clear |
| C L Lorson, E J Androph. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Human molecular genetics. vol 9. issue 2. 2000-02-28. PMID:10607836. |
the survival motor neuron genes, smn1 and smn2, encode identical proteins; however, only homo- zygous loss of smn1 correlates with the development of spinal muscular atrophy (sma). |
2000-02-28 |
2023-08-12 |
drosophila_melanogaster |
| H M Hsieh-Li, J G Chang, Y J Jong, M H Wu, N M Wang, C H Tsai, H L. A mouse model for spinal muscular atrophy. Nature genetics. vol 24. issue 1. 2000-02-10. PMID:10615130. |
homozygous mutation of smn1 is associated with proximal spinal muscular atrophy (sma), a severe motor neuron disease characterized by early childhood onset of progressive muscle weakness. |
2000-02-10 |
2023-08-12 |
mouse |
| N H Gendron, A E MacKenzi. Spinal muscular atrophy: molecular pathophysiology. Current opinion in neurology. vol 12. issue 2. 1999-07-08. PMID:10226744. |
the delineation of smn1 as the gene that causes spinal muscular atrophy and the identification of genes that modify spinal muscular atrophy raise the prospect of gene therapy or in-vivo gene activation treatment for this frequently fatal disorder. |
1999-07-08 |
2023-08-12 |
Not clear |
| C L Lorson, E Hahnen, E J Androphy, B Wirt. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 96. issue 11. 1999-06-24. PMID:10339583. |
a critical question is why only the homozygous loss of smn1, and not smn2, results in spinal muscular atrophy (sma). |
1999-06-24 |
2023-08-12 |
Not clear |
| C Ravard-Goulvestre, C Boucly, B Mathieu, G Van Amerongen, L Viollet, B Estournet, A Barois, P de Mazancour. Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy. Clinical chemistry and laboratory medicine. vol 37. issue 2. 1999-06-21. PMID:10219501. |
the smn1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal muscular atrophies. |
1999-06-21 |
2023-08-12 |
Not clear |
| B Wirth, M Herz, A Wetter, S Moskau, E Hahnen, S Rudnik-Schöneborn, T Wienker, K Zerre. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. American journal of human genetics. vol 64. issue 5. 1999-05-20. PMID:10205265. |
problems with diagnosis and genetic counseling occur for patients with autosomal recessive proximal spinal muscular atrophy (sma) who do not show the most common mutation: homozygous absence of at least exon 7 of the telomeric survival motor neuron gene (smn1). |
1999-05-20 |
2023-08-12 |
Not clear |
| A G Mater. RNA splicing: more clues from spinal muscular atrophy. Current biology : CB. vol 9. issue 4. 1999-04-22. PMID:10074419. |
spinal muscular atrophy is caused by mutations in the smn1 gene, the product of which is part of a multi-component complex involved in the assembly of small nuclear ribonucleoproteins. |
1999-04-22 |
2023-08-12 |
Not clear |