ArticleNeurogenetics2007
Robust quantification of the SMN gene copy number by real-time TaqMan PCR.
Article in Neurogenetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 41 citations in OpenAlex.
- Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.PloS one · 2012Trial
- Single NucleotideNeurology. Genetics · 2025Article
- Current Advances in Genetic Testing for Spinal Muscular Atrophy.Current genomics · 2023Review
- Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.Scientific reports · 2022Article
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Neurogenetics · 2021Article
- Practical guidelines to manage discordant situations ofNeurology. Genetics · 2020Article
- Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument.Scientific reports · 2020Article
- The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment.Journal of personalized medicine · 2020Review
- Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.Journal of human genetics · 2019Article
- Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology.Life science alliance · 2019Article
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.Molecular genetics & genomic medicine · 2015Article
- Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.JAMA neurology · 2015Article
- Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.Journal of molecular neuroscience : MN · 2015Article
- Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR.Genetics and molecular biology · 2012Article
- A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.European journal of human genetics : EJHG · 2011Article
- Genome structural variation discovery and genotyping.Nature reviews. Genetics · 2011Review
- Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent.BMC cell biology · 2009Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). The highly homologous gene, SMN2, is present in all patients, but it cannot compensate for loss of SMN1. SMN2 differs from SMN1 by a few nucleotide changes, but a C --> T transition in exon 7 leads to exon skipping. As a result, most transcripts from the SMN2 gene lack exon 7. Although SMN1 is the disease-determining gene, the number of SMN2 copies appears to modulate SMA clinical phenotypes. Thus, determining the SMN copy number is important for clinical diagnosis and prognosis. We have developed a quantitative real-time TaqMan polymerase chain reaction assay for both the SMN1 and SMN2 genes, in which reliable copy number determination was possible on deoxyribonucleic acid samples obtained by two different isolation methods and from two different sources (human blood and skin fibroblasts). For SMN1, allele specificity was attained solely by addition of an allele-specific forward primer and, for SMN2, by addition of a specific forward primer and a nonextending oligonucleotide (SMN1 blocker) that reduced nonspecific amplification from SMN1 to a negligible level. We validated the reliability of this real-time polymerase chain reaction approach and found that the coefficient of variation for all the gene copy number measurements was below 10%. Quantitative analysis of the SMN copy number in SMA fibroblasts by this approach showed deletion of SMN1 and an inverse correlation between the SMN2 copy number and severity of the disease.
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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.