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Article

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

Journal of cellular and molecular medicine - 1 Oct 2025

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41053916
DOI: 10.1111/jcmm.70871
PMCID: PMC12500408

Genes

FAM111B
CCN2
COL3A1
ITGB1
MMP13
MMP3
PDGFA
THBS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.PMID 41053916Read ↗

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