Evidence map›Paper›PMID 40924475›Full record

ArticleThe Journal of clinical investigation2025

XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.

Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett, Sally Turner, Joanne Palfrey, Isabel Garrood, Adesoji Abiona, Ana Ms Morley, Mayuko Shimada and 3 more

Abstract read
In one paragraph

Article in The Journal of clinical investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature.Movement disorders : official journal of the Movement Disorder Society · 2026
    Review
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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

13 authors.

Hiva FassihiNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Shehla MohammedNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Yuka NakazawaDepartment of Molecular Genetics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Heather FawcettGenome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.
Sally TurnerNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Joanne PalfreyNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Isabel GarroodNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Adesoji AbionaNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Ana Ms MorleyNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Mayuko ShimadaDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Kana KatoDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Alan R LehmannNational Xeroderma Pigmentosum Service, Rare Disease Centre, Guy's and St Thomas' NHS Trust, London, United Kingdom.
Tomoo OgiDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DermatologyDNA repairGenetic diseasesGeneticsMonogenic diseases

Identifiers

PMID40924475
PMCPMC12618057

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.