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
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Zheng Y et al.
Hepatology International, 2024
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Ryabets-Lienhard A et al.
Calcified Tissue International, 2023
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH et al.
Pediatric Dermatology, 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
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M et al.
American Journal of Medical Genetics. Part A, 2022
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
Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review.
Wu Y 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
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.
Goussot R et al.
Jaad Case Reports, 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
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Mercier S et al.
American Journal of Human Genetics, 2013