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

Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.

Stem cell reports - 14 Oct 2014

de Esch Celine E F, Ghazvini Mehrnaz, Loos Friedemann, Schelling-Kazaryan Nune, Widagdo W, Munshi Shashini T, van der Wal Erik, Douben Hannie, Gunhanlar Nilhan, Kushner Steven A, Pijnappel W W M Pim, de Vrij Femke M S, Geijsen Niels, Gribnau Joost, Willemsen Rob

Abstract excerpt

Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells (iPSCs) of an unmethylated full mutation (uFM) individual with normal intelligence. The uFM fibroblast line carried an unmethylated FMR1 promoter region and...

Read the complete abstract on PubMed

Topics

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

Share to Cellular Reprogramming
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Fragile X Mental Retardation Protein

Share to Gene Silencing

Share to Histones

Share to Induced Pluripotent Stem Cells

Share to Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 25358783
DOI: 10.1016/j.stemcr.2014.07.013
PMCID: PMC4223701

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.PMID 25358783Read ↗

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.Semantic proximity Read ↗

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.Semantic proximity Read ↗

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Semantic proximity Read ↗

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.Semantic proximity Read ↗

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

Role of CTCF protein in regulating FMR1 locus transcription.Semantic proximity Read ↗

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in Fragile X syndromeSemantic proximity Read ↗

Molecular dissection of the events leading to inactivation of the FMR1 gene.Semantic proximity Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.Semantic proximity Read ↗

CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Semantic proximity Read ↗

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.Semantic proximity Read ↗

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