| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Wan-jin Chen, Zhi-ying Wu, Ning Wang, Min-ting Lin, Shen-xing Mu-ron. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 22. issue 6. 2009-03-19. PMID:16331551. |
quantitative studies on smn1 gene and carrier testing of spinal muscular atrophy. |
2009-03-19 |
2023-08-12 |
Not clear |
| Wan-jin Chen, Zhi-ying Wu, Ning Wang, Min-ting Lin, Shen-xing Mu-ron. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 22. issue 6. 2009-03-19. PMID:16331551. |
to construct a method for detecting the copy number of survival of motor neuron 1 gene (smn1) with single copy difference based on real-time fluorescence quantitative pcr, and to make practical use of the method for acquiring the data on smn1 copy number in chinese as well as for screening the carriers of spinal muscular atrophy (sma) from healthy individuals and sma families. |
2009-03-19 |
2023-08-12 |
Not clear |
| Yu-hua Liang, Xiao-ling Chen, Zhong-sheng Yu, Chun-yue Chen, Sheng Bi, Lian-gen Mao, Bo-lin Zhou, Xian-ning Zhan. Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. Journal of Zhejiang University. Science. B. vol 10. issue 1. 2009-03-17. PMID:19198020. |
deletion analysis of smn1 and naip genes in southern chinese children with spinal muscular atrophy. |
2009-03-17 |
2023-08-12 |
Not clear |
| Barrington G Burnett, Eric Muñoz, Animesh Tandon, Deborah Y Kwon, Charlotte J Sumner, Kenneth H Fischbec. Regulation of SMN protein stability. Molecular and cellular biology. vol 29. issue 5. 2009-03-10. PMID:19103745. |
spinal muscular atrophy (sma) is caused by mutations of the survival of motor neuron (smn1) gene and deficiency of full-length smn protein (fl-smn). |
2009-03-10 |
2023-08-12 |
Not clear |
| Mei-juan Long, Fang Song, Yu-jin Qu, Yan Meng, Hong Wang, Yu-wei Jin, Shang-zhi Huan. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. Zhonghua yi xue za zhi. vol 88. issue 18. 2009-03-03. PMID:18844099. |
[quantitative analysis of smn1 and smn2 genes based on dhplc: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. |
2009-03-03 |
2023-08-12 |
Not clear |
| Kathrin Meyer, Julien Marquis, Judith Trüb, Rachel Nlend Nlend, Sonia Verp, Marc-David Ruepp, Hans Imboden, Isabelle Barde, Didier Trono, Daniel Schümperl. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Human molecular genetics. vol 18. issue 3. 2009-02-27. PMID:19010792. |
in spinal muscular atrophy (sma), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (smn1) is deleted or inactivated. |
2009-02-27 |
2023-08-12 |
mouse |
| Mohd Shamshudin Watihayati, Hayati Fatemeh, Marzuki Marini, Amin Baig Atif, Wan Mohd Zahiruddin, Teguh Haryo Sasongko, Thean Hock Tang, Z A M H Zabidi-Hussin, Hisahide Nishio, Bin Alwi Zilfali. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy. Brain & development. vol 31. issue 1. 2009-02-19. PMID:18842367. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the smn1 gene. |
2009-02-19 |
2023-08-12 |
Not clear |
| Michael P Walker, T K Rajendra, Luciano Saieva, Jennifer L Fuentes, Livio Pellizzoni, A Gregory Mater. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Human molecular genetics. vol 17. issue 21. 2009-02-10. PMID:18689355. |
spinal muscular atrophy (sma) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (smn1) gene. |
2009-02-10 |
2023-08-12 |
mouse |
| Jan Hauke, Markus Riessland, Sebastian Lunke, Ilker Y Eyüpoglu, Ingmar Blümcke, Assam El-Osta, Brunhilde Wirth, Eric Hahne. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Human molecular genetics. vol 18. issue 2. 2009-02-03. PMID:18971205. |
spinal muscular atrophy (sma), a common neuromuscular disorder, is caused by homozygous absence of the survival motor neuron gene 1 (smn1), while the disease severity is mainly influenced by the number of smn2 gene copies. |
2009-02-03 |
2023-08-12 |
human |
| Laura Alías, Sara Bernal, Pablo Fuentes-Prior, María Jesus Barceló, Eva Also, Rebeca Martínez-Hernández, Francisco J Rodríguez-Alvarez, Yolanda Martín, Elena Aller, Elena Grau, Ana Peciña, Guillermo Antiñolo, Enrique Galán, Alberto L Rosa, Miguel Fernández-Burriel, Salud Borrego, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Human genetics. vol 125. issue 1. 2009-02-02. PMID:19050931. |
mutation update of spinal muscular atrophy in spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the smn1 gene. |
2009-02-02 |
2023-08-12 |
Not clear |
| Laura Alías, Sara Bernal, Pablo Fuentes-Prior, María Jesus Barceló, Eva Also, Rebeca Martínez-Hernández, Francisco J Rodríguez-Alvarez, Yolanda Martín, Elena Aller, Elena Grau, Ana Peciña, Guillermo Antiñolo, Enrique Galán, Alberto L Rosa, Miguel Fernández-Burriel, Salud Borrego, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Human genetics. vol 125. issue 1. 2009-02-02. PMID:19050931. |
spinal muscular atrophy (sma) is caused by mutations in the smn1 gene. |
2009-02-02 |
2023-08-12 |
Not clear |
| Tristan H Coady, Travis D Baughan, Monir Shababi, Marco A Passini, Christian L Lorso. Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PloS one. vol 3. issue 10. 2009-01-13. PMID:18941511. |
spinal muscular atrophy (sma) is caused by loss of smn1. |
2009-01-13 |
2023-08-12 |
mouse |
| Jasbir Singh, Michael Salcius, Shin-Wu Liu, Bart L Staker, Rama Mishra, John Thurmond, Gregory Michaud, Dawn R Mattoon, John Printen, Jeffery Christensen, Jon Mar Bjornsson, Brian A Pollok, Megerditch Kiledjian, Lance Stewart, Jill Jarecki, Mark E Gurne. DcpS as a therapeutic target for spinal muscular atrophy. ACS chemical biology. vol 3. issue 11. 2008-12-31. PMID:18839960. |
spinal muscular atrophy (sma) is caused by deletion or mutation of both copies of the smn1 gene, which produces an essential protein known as smn. |
2008-12-31 |
2023-08-12 |
Not clear |
| S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerre. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. Journal of medical genetics. vol 45. issue 10. 2008-12-10. PMID:18662980. |
homozygous deletions/mutations of the smn1 gene cause infantile spinal muscular atrophy (sma). |
2008-12-10 |
2023-08-12 |
Not clear |
| Hung-Hsi Chen, Jan-Growth Chang, Ruei-Min Lu, Tsui-Yi Peng, Woan-Yuh Tar. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Molecular and cellular biology. vol 28. issue 22. 2008-11-13. PMID:18794368. |
spinal muscular atrophy (sma) is a recessive neuromuscular disorder caused by the homozygous loss of the smn1 gene. |
2008-11-13 |
2023-08-12 |
mouse |
| Goran Simi. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta neuropathologica. vol 116. issue 3. 2008-11-10. PMID:18629520. |
although it is known that deletions or mutations of the smn1 gene on chromosome 5 cause decreased levels of the smn protein in subjects with proximal autosomal recessive spinal muscular atrophy (sma), the exact sequence of pathological events leading to selective motoneuron cell death is not fully understood yet. |
2008-11-10 |
2023-08-12 |
human |
| Chun-Chi Wang, Jan-Gowth Chang, Jerome Ferrance, Hsin-Yi Chen, Chung-Yee You, Yung-Fu Chang, Yuh-Jyh Jong, Shou-Mei Wu, Chao-Hung Ye. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. vol 29. issue 13. 2008-09-30. PMID:18546169. |
quantification of smn1 and smn2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. |
2008-09-30 |
2023-08-12 |
Not clear |
| Chun-Chi Wang, Jan-Gowth Chang, Jerome Ferrance, Hsin-Yi Chen, Chung-Yee You, Yung-Fu Chang, Yuh-Jyh Jong, Shou-Mei Wu, Chao-Hung Ye. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. vol 29. issue 13. 2008-09-30. PMID:18546169. |
spinal muscular atrophy (sma) is an inherited neuromuscular disorder deleted or mutated in smn1 gene and retained at least one copy of smn2 gene. |
2008-09-30 |
2023-08-12 |
Not clear |
| Monique A Lorson, Alexa M Dickson, Debra J Shaw, Adrian G Todd, Elizabeth C Young, Robert Morse, Catherine Wolstencroft, Christian L Lorson, Philip J Youn. Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Biochemical and biophysical research communications. vol 375. issue 1. 2008-09-09. PMID:18675250. |
mutations in the smn1 gene cause the autosomal recessive disorder spinal muscular atrophy (sma). |
2008-09-09 |
2023-08-12 |
Not clear |
| Van Khanh Tran, Teguh Haryo Sasongko, Dang Diem Hong, Nguyen Thi Hoan, Vu Chi Dung, Myeong Jin Lee, Gunadi, Yasuhiro Takeshima, Masafumi Matsuo, Hisahide Nishi. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy. Pediatrics international : official journal of the Japan Pediatric Society. vol 50. issue 3. 2008-07-31. PMID:18533950. |
the smn1 gene is now recognized as a spinal muscular atrophy (sma)-causing gene, while smn2 and naip have been characterized as a modifying factor of the clinical severity of sma. |
2008-07-31 |
2023-08-12 |
Not clear |