Evidence map›Paper›PMID 42729676›Full record

ArticleHuman mutation2026

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.

Alexandra Boyling, Anthony N Cutrupi, Desmond Li, Ben Crossett, Jonathan J Danon, Edward D Harvey-Latham, Garth A Nicholson, Steve Vucic, Marina L Kennerson

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 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

9 authors.

Alexandra BoylingNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, New South Wales, Australia, anzac.edu.au.ORCID https://orcid.org/0009-0006-6138-5137
Anthony N CutrupiNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, New South Wales, Australia, anzac.edu.au.ORCID https://orcid.org/0000-0002-4527-3710
Desmond LiSydney Mass Spectrometry, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0001-8329-9658
Ben CrossettSydney Mass Spectrometry, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0001-5366-4554
Jonathan J DanonSchool of Chemistry, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0001-6242-1941
Edward D Harvey-LathamSchool of Chemistry, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.
Garth A NicholsonMolecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia, concordhospital.org.ORCID https://orcid.org/0000-0001-9694-066X
Steve VucicBrain and Nerve Research Centre, Concord Clinical School, The University of Sydney, Sydney, New South Wales, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-8323-873X
Marina L KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, New South Wales, Australia, anzac.edu.au.ORCID https://orcid.org/0000-0003-3332-5074

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth (CMT) neuropathy is a clinically and genetically heterogeneous group of diseases characterized by the length-dependent axonal degeneration of peripheral nerves. We previously mapped a rare form of X-linked CMT, CMTX3, to a 5.7-Mb interval on chromosome Xq26.3-q27.1 and excluded the coding region of all known genes in the linkage interval for mutations. Whole genome sequencing subsequently identified a 78-kb region of chromosome 8q24.3 that had been duplicated and inserted into the CMTX3 locus between the genes

Indexed as

Charcot-Marie-Tooth DiseaseSOXB1 Transcription FactorsFemaleGene Expression RegulationGTPase-Activating ProteinsHumansInduced Pluripotent Stem CellsMaleMotor NeuronsPedigreeGTPase-Activating ProteinsSOX3 protein, humanSOXB1 Transcription Factors

Identifiers

PMID42729676
PMCPMC13563502

What OpenQuestion holds

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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.