| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shuji Ogino, Debra G B Leonard, Hanna Rennert, Warren J Ewens, Robert B Wilso. Genetic risk assessment in carrier testing for spinal muscular atrophy. American journal of medical genetics. vol 110. issue 4. 2002-10-25. PMID:12116201. |
as evidenced by the complete absence of a functionally critical sequence in exon 7, approximately 94% of individuals with clinically typical spinal muscular atrophy (sma) lack both copies of the smn1 gene at 5q13. |
2002-10-25 |
2023-08-12 |
Not clear |
| Karen A Wehner, Laura Ayala, Youngseon Kim, Philip J Young, Betsy A Hosler, Christian L Lorson, Susan J Baserga, Jonathan W Franci. Survival motor neuron protein in the nucleolus of mammalian neurons. Brain research. vol 945. issue 2. 2002-10-25. PMID:12126878. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by mutations in the survival motor neuron gene (smn1). |
2002-10-25 |
2023-08-12 |
Not clear |
| Suzie Lefebvre, Philippe Burlet, Louis Viollet, Solange Bertrandy, Céline Huber, Caroline Belser, Arnold Munnic. A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. Human molecular genetics. vol 11. issue 9. 2002-09-23. PMID:11978761. |
spinal muscular atrophy (sma) is caused by the loss of functional survival motor neuron 1 (smn1) protein. |
2002-09-23 |
2023-08-12 |
Not clear |
| Philip J Young, Christine J DiDonato, Diane Hu, Rashmi Kothary, Elliot J Androphy, Christian L Lorso. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Human molecular genetics. vol 11. issue 5. 2002-09-09. PMID:11875052. |
proximal spinal muscular atrophy (sma) is caused by the homozygous loss of survival motor neuron (smn1). |
2002-09-09 |
2023-08-12 |
Not clear |
| Carmen Cifuentes-Diaz, Sophie Nicole, Maria E Velasco, Christophe Borra-Cebrian, Cristina Panozzo, Tony Frugier, Gaelle Millet, Natacha Roblot, Vandana Joshi, Judith Melk. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Human molecular genetics. vol 11. issue 12. 2002-08-30. PMID:12023986. |
mutations of survival of the motor neuron gene (smn1) are responsible for spinal muscular atrophy (sma), a common genetic cause of death in childhood. |
2002-08-30 |
2023-08-12 |
mouse |
| Hiroshi Miyajima, Hidenobu Miyaso, Masayo Okumura, Junko Kurisu, Kazunori Imaizum. Identification of a cis-acting element for the regulation of SMN exon 7 splicing. The Journal of biological chemistry. vol 277. issue 26. 2002-08-06. PMID:11956196. |
spinal muscular atrophy results from the loss of functional survival motor neuron (smn1) alleles. |
2002-08-06 |
2023-08-12 |
Not clear |
| Yolanda Martín, Ana Valero, Emilia del Castillo, Samuel I Pascual, Concepción Hernández-Chic. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Human genetics. vol 110. issue 3. 2002-05-21. PMID:11935338. |
autosomal recessive spinal muscular atrophy (sma) is a disease resulting from mutations in the telomeric survival motor neuron gene ( smn1). |
2002-05-21 |
2023-08-12 |
Not clear |
| Luca Cartegni, Adrian R Kraine. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature genetics. vol 30. issue 4. 2002-05-02. PMID:11925564. |
disruption of an sf2/asf-dependent exonic splicing enhancer in smn2 causes spinal muscular atrophy in the absence of smn1. |
2002-05-02 |
2023-08-12 |
Not clear |
| Luca Cartegni, Adrian R Kraine. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature genetics. vol 30. issue 4. 2002-05-02. PMID:11925564. |
spinal muscular atrophy results from the lack of functional survival of motor neuron 1 gene (smn1), even though all affected individuals carry a nearly identical, normal smn2 gene. |
2002-05-02 |
2023-08-12 |
Not clear |
| 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 |