Evidence map›Paper›PMID 40589716›Full record

ArticleBiomedical reports2025

Intronic hexanucleotide repeat expansion in

Sunisa Kanchanasutthiyakorn, Sakchai Chaiyamahapurk, Siraprapa Tongkobpetch, Kanokwan Santawong, Chalurmpon Srichomthong, Tippayakarn Klomchan, Chaiyaporn Virochsangaroon, Monnat Pongpanich, Prateep Warnnissorn, Sutatip Pongcharoen and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedical reports, 2025. 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

11 authors.

Sunisa KanchanasutthiyakornProgram in Bioinformatics and Computational Biology, Graduate School, Chulalongkorn University, Bangkok 10330, Thailand.
Sakchai ChaiyamahapurkDivision of Epidemiology, Department of Community Medicine, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand.
Siraprapa TongkobpetchCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Kanokwan SantawongCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Chalurmpon SrichomthongExcellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand.
Tippayakarn KlomchanDivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand.
Chaiyaporn VirochsangaroonDepartment of Pathology, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand.
Monnat PongpanichDepartment of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.
Prateep WarnnissornDepartment of Medicine, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand.
Sutatip PongcharoenDepartment of Medicine, Faculty of Medicine, Naresuan University, Phitsanulok 65000, Thailand.
Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyperpigmentation presents a diverse clinical spectrum, largely influenced by genetic factors that remain incompletely understood. The present study describes a case of monozygotic twin girls aged 15 years with congenital progressive universal melanosis (CPUM) born to non-consanguineous unaffected parents. CPUM represents a novel clinical entity characterized by progressive widespread hyperpigmentation beginning at birth, without other accompanying symptoms. Skin biopsy and histopathological analysis were performed, followed by long-read whole-genome sequencing and short tandem repeat analysis. Gene expression was evaluated using reverse transcription-PCR, and protein levels were assessed by western blotting in cultured skin fibroblasts from the twins and unaffected controls. Long-read genome sequencing revealed a biallelic GATGGT repeat expansion of 210-259 repeat units within the third intron of the thymidylate synthase (

Indexed as

congenitaldiffuse hyperpigmentationlong-read SMRT sequencingtandem repeat expansionTYMS

Identifiers

PMID40589716
PMCPMC12207724

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.