ArticleThe Journal of molecular diagnostics : JMD2016
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.
Article in The Journal of molecular diagnostics : JMD, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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.
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Who cites it
27 citing papers in PubMed.
- Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism.PNAS nexus · 2026Article
- MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.Epigenetics & chromatin · 2025Article
- Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders.International journal of molecular sciences · 2025Article
- All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.Scientific reports · 2024Article
- All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.bioRxiv : the preprint server for biology · 2024Article
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- Article
- Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models.Disease models & mechanisms · 2022Article
- Characterization ofFrontiers in genetics · 2021Article
- A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.Nucleic acids research · 2020Article
- Article
- Isolation and Analysis of the CGG-Repeat Size in Male and Female Gametes from a Fragile X Mouse Model.Methods in molecular biology (Clifton, N.J.) · 2020Article
- CGG Repeat Expansion, and ElevatedFrontiers in cell and developmental biology · 2020Article
- Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.American journal of medical genetics. Part A · 2019Article
- Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.Brain sciences · 2019Article
- Double-strand break repair plays a role in repeat instability in a fragile X mouse model.DNA repair · 2019Article
- Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders.Methods in molecular biology (Clifton, N.J.) · 2019Article
- MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective.PLoS genetics · 2018Article
- FAN1 protects against repeat expansions in a Fragile X mouse model.DNA repair · 2018Article
- Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders.Frontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
The diagnosis and study of the fragile X-related disorders is complicated by the difficulty of amplifying the long CGG/CCG-repeat tracts that are responsible for disease pathology, the potential presence of AGG interruptions within the repeat tract that can ameliorate expansion risk, the occurrence of variable DNA methylation that modulates disease severity, and the high frequency of mosaicism for both repeat number and methylation status. These factors complicate patient risk assessment. In addition, the variability in these parameters that is seen when patient cells are grown in culture requires their frequent monitoring to ensure reproducible results in a research setting. Many existing assays have the limited ability to amplify long alleles, particularly in a mixture of different allele sizes. Others are better at this, but are too expensive for routine use in most laboratories or for newborn screening programs and use reagents that are proprietary. We describe herein a set of assays to routinely evaluate all of these important parameters in a time- and cost-effective way.
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