ArticleBMC medical genetics2011
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.International journal of neonatal screening · 2025Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
- Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg.International journal of neonatal screening · 2024Article
- Serum-Resistant Ternary DNA Polyplexes for Suicide Gene Therapy of Uterine Leiomyoma.International journal of molecular sciences · 2023Article
- Development of 2'-O-Methyl and LNA Antisense Oligonucleotides forBiomedicines · 2023Article
- Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy.Journal of clinical medicine · 2023Review
- Article
- Molecular Biomarkers for Spinal Muscular Atrophy: A Systematic Review.Neurology. Clinical practice · 2021Review
- Resolving misalignment interference for NGS-based clinical diagnostics.Human genetics · 2021Article
- Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?Frontiers in genetics · 2020Article
- Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A.Journal of molecular neuroscience : MN · 2019Article
- Novel challenges in spinal muscular atrophy - How to screen and whom to treat?Annals of clinical and translational neurology · 2019Review
- Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.Current genomics · 2018Review
- Free-Aspire: A new device for the management of airways clearance in patient with ineffective cough.Pediatric reports · 2017Article
- Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis.Yonsei medical journal · 2017Article
- Article
- Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity.PloS one · 2015Article
- Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.Assay and drug development technologies · 2014Review
- Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.Case reports in neurological medicine · 2014Article
- Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.European journal of human genetics : EJHG · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1). SMN2 is a centromeric copy gene that has been characterized as a major modifier of SMA severity. SMA type I patients have one or two SMN2 copies while most SMA type II patients carry three SMN2 copies and SMA III patients have three or four SMN2 copies. The SMN1 gene produces a full-length transcript (FL-SMN) while SMN2 is only able to produce a small portion of the FL-SMN because of a splice mutation which results in the production of abnormal SMNΔ7 mRNA.
methodsIn this study we performed quantification of the SMN2 gene copy number in Russian patients affected by SMA type II and III (42 and 19 patients, respectively) by means of real-time PCR. Moreover, we present two families consisting of asymptomatic carriers of a homozygous absence of the SMN1 gene. We also developed a novel RT-qPCR-based assay to determine the FL-SMN/SMNΔ7 mRNA ratio as SMA biomarker.
resultsComparison of the SMN2 copy number and clinical features revealed a significant correlation between mild clinical phenotype (SMA type III) and presence of four copies of the SMN2 gene. In both asymptomatic cases we found an increased number of SMN2 copies in the healthy carriers and a biallelic SMN1 absence. Furthermore, the novel assay revealed a difference between SMA patients and healthy controls.
conclusionsWe suggest that the SMN2 gene copy quantification in SMA patients could be used as a prognostic tool for discrimination between the SMA type II and SMA type III diagnoses, whereas the FL-SMN/SMNΔ7 mRNA ratio could be a useful biomarker for detecting changes during SMA pharmacotherapy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.