Associated Papers
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Vignard V et al.
Ebiomedicine, 2025
40840166 (PubMed )
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Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH et al.
Pediatric Dermatology, 2023
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN et al.
Frontiers in Immunology, 2023
Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.
Kliszczak M et al.
Frontiers in Cell and Developmental Biology, 2023
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.
Arowolo A et al.
Experimental Dermatology, 2022
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.
Takimoto-Sato M et al.
Frontiers in Genetics, 2022
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Roversi G et al.
Genetics and Molecular Biology, 2021
FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.
Hoffmann S et al.
Embo Reports, 2020
Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.
Zhang Z et al.
The Journal of Dermatology, 2019
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
Takeichi T et al.
The British Journal of Dermatology, 2017
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S et al.
Orphanet Journal of Rare Diseases, 2015
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