Evidence map›Paper›PMID 41053916›Full record

ArticleJournal of cellular and molecular medicine2025

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.

Nadine Tambwe, Musalula Sinkala, Oluwafemi G Oluwole, Nonhlanhla P Khumalo, Afolake Arowolo

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cellular and molecular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

5 authors.

Nadine TambweHair and Skin Research Lab, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
Musalula SinkalaDivision of Computational Biology, Department of Integrative Biomedical Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Oluwafemi G OluwoleBiomedical Research Centre, Nuffield Department of Medicine, Centre for Human Genetics, University of Oxford, Oxford, UK.
Nonhlanhla P KhumaloHair and Skin Research Lab, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
Afolake ArowoloHair and Skin Research Lab, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-1402-8835

Funding

Division of Research Capacity Development HDID8682/MB2022South African National Research Foundation (NRF) Thuthuka Funding Instrument (NRF Rating Track) TTK170413227114
6 · The paper itself

Abstract

Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi-organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling of FAM111B and associated fibrotic pathways. Post-mortem formalin-fixed paraffin-embedded (FFPE) tissues from a POIKTMP patient and healthy controls were analysed. Genomic DNA was extracted, confirming the FAM111B Y621D mutation via Sanger sequencing. RT-qPCR and the RT

Indexed as

ContractureGene Expression ProfilingMutationPulmonary FibrosisSkin AbnormalitiesFemaleFibrosisGenotypeHumansMaleFAM111Bfibrosisgene enrichment analysisgene expressionPOIKTMP

Identifiers

PMID41053916
PMCPMC12500408

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.