SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells.

Uria Aviel, Adi Kababw-Florentin, Manar Abu Diab, Yotam Drier, Silvina Epsztejn-Litman, Rachel Eiges

Abstract read

In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Uria AvielStem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9112102, Israel.

Adi Kababw-FlorentinStem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9112102, Israel.

Manar Abu DiabStem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9112102, Israel.

Yotam DrierFaculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.ORCID 0000-0003-1725-2995

Silvina Epsztejn-LitmanStem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9112102, Israel.

Rachel EigesStem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9112102, Israel.ORCID 0000-0001-8139-0933

Funding

Israel Science Foundation 244/23Israel Science Foundation 3117/24Ministry of Innovation, Science and Technology 0006191

6 · The paper itself

Abstract

Fragile X syndrome (FRAX) is caused by CGG repeat expansion in the

Indexed as

Chromosomal Proteins, Non-HistoneDNA MethylationFragile X Messenger Ribonucleoprotein 1Fragile X SyndromePluripotent Stem CellsCell LineGene SilencingHumansMuscular Dystrophy, FacioscapulohumeralTrinucleotide Repeat ExpansionChromosomal Proteins, Non-HistoneFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1SMCHD1 protein, humanFMR1 DNA methylationfragile X syndromepluripotent stem cellsSMCHD1

Identifiers

PMID42653228

DOI10.3390/ijms27167224

PMCPMC13513341

What OpenQuestion holds

Textmetadata

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Registered trials

None linked

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.