Evidence map›Paper›PMID 30832215›Full record

ArticleBrain sciences2019

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.

Xiaonan Zhao, Inbal Gazy, Bruce Hayward, Elizabeth Pintado, Ye Hyun Hwang, Flora Tassone, Karen Usdin

Open access · goldAbstract read
In one paragraph

Article in Brain sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
3.0field-weighted citation impact, top 9% of its field
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

18 citing papers in PubMed, 24 citations in OpenAlex.

  1. Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025
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  15. CGG Repeat Expansion, and ElevatedFrontiers in cell and developmental biology · 2020
    Article
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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

7 authors at 3 institutions in 2 countries.

Xiaonan ZhaoSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. xiaonan.zhao@nih.gov.ORCID 0000-0001-7281-3914
Inbal GazySection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. inbal.gazy@nih.gov.
Bruce HaywardSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. bruce.hayward@nih.gov.
Elizabeth PintadoDepartment of Medical Biochemistry and Molecular Biology, School of Medicine, University Hospital Virgen Macarena, University of Seville, 41009 Seville, Spain. elizabet@us.es.
Ye Hyun HwangDepartment of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA. yehhwang@ucdavis.edu.
Flora TassoneDepartment of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA. ftassone@ucdavis.edu.ORCID 0000-0002-6388-9180
Karen UsdinSection on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. ku@helix.nih.gov.
National Institutes of Health · USUniversity of California Davis Medical Center · USHospital Universitario Virgen Macarena · ES

Funding

Understanding the mutational mechanism responsible for the Repeat Expansion DiseasesZIADK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2009 to 2025
$14.1M
Mechanism of repeat expansion in Fragile X syndromeZ01DK057808 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI USDIN, KAREN P. · 2007 to 2008
$570k
Intramural NIH HHS Z01 DK057808NIH HHS DK057808
6 · The paper itself

Abstract

The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the

Indexed as

base excision repair (BER)CGG Repeat Expansion DiseasecontractionDNA instabilitydouble-strand break repair (DSBR)expansionmismatch repair (MMR)mosaicismNon-homologous end-joining (NHEJ)transcription coupled repair (TCR)

Identifiers

PMID30832215
PMCPMC6468611
OpenAlexW2920746292

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.