Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.

Scientific reports - 16 Jul 2020

Baker Emma K, Arpone Marta, Kraan Claudine, Bui Minh, Rogers Carolyn, Field Michael, Bretherton Lesley, Ling Ling, Ure Alexandra, Cohen Jonathan, Hunter Matthew F, Santa María Lorena, Faundes Victor, Curotto Bianca, Morales Paulina, Trigo Cesar, Salas Isabel, Alliende Angelica, Amor David J, Godler David E

Abstract excerpt

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Australia
Share to Chile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Mosaicism

Share to Quality of Life

Share to Research Design

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 32678152
DOI: 10.1038/s41598-020-68465-6
PMCID: PMC7367290

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.PMID 32678152Read ↗

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.Semantic proximity Read ↗

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Semantic proximity Read ↗

Size and methylation mosaicism in males with Fragile X syndrome.Semantic proximity Read ↗

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients With Neurobehavioral AssessmentsSemantic proximity Read ↗

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Semantic proximity Read ↗

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Semantic proximity Read ↗

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.Semantic proximity Read ↗

Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.Semantic proximity Read ↗

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.Semantic proximity Read ↗

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.Semantic proximity Read ↗

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.Semantic proximity Read ↗

FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.