| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| T T Le, D D Coovert, U R Monani, G E Morris, A H Burghe. The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization. Neurogenetics. vol 3. issue 1. 2001-02-22. PMID:11085591. |
spinal muscular atrophy (sma) is caused by mutations in the telomeric copy of the survival motor neuron gene (smn1) but not mutations in the centromeric copy (smn2). |
2001-02-22 |
2023-08-12 |
Not clear |
| C Helmken, B Wirt. Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy. Human genetics. vol 107. issue 6. 2001-01-25. PMID:11153908. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by homozygous mutations of the survival motor neuron gene 1 (smn1). |
2001-01-25 |
2023-08-12 |
Not clear |
| 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 |