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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, Rhoda C, Khumalo N. Arowolo A, et al. Exp Dermatol. 2022 May;31(5):648-654. doi: 10.1111/exd.14537. Epub 2022 Feb 13. Exp Dermatol. 2022. PMID: 35122327 Free PMC article. Review.
Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP-associated FAM111B gene mutations reported in thirty-six patients from five families globally. ...
Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, …
Unveiling FAM111B: A Pan-Cancer Biomarker for DNA Repair and Immune Infiltration.
Wei F, Li W, Zhou T, Yuan X, Zhang L. Wei F, et al. Int J Mol Sci. 2025 Mar 28;26(7):3151. doi: 10.3390/ijms26073151. Int J Mol Sci. 2025. PMID: 40243892 Free PMC article.
Recent evidence indicates that FAM111B is significantly involved in the progression of various cancers. Nonetheless, the potential pan-cancer implications of FAM111B have not been systematically investigated. ...The results were validated via multiplex immunofluores …
Recent evidence indicates that FAM111B is significantly involved in the progression of various cancers. Nonetheless, the potential pa …
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Hoeger PH, Koehler LM, Reipschlaeger M, Mercier S. Hoeger PH, et al. Pediatr Dermatol. 2023 Jan;40(1):182-187. doi: 10.1111/pde.15133. Epub 2022 Sep 14. Pediatr Dermatol. 2023. PMID: 36102338 Review.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previo …
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autos …
FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening.
Rhoda C, Sunda F, Kidzeru E, Khumalo NP, Arowolo A. Rhoda C, et al. Cancer Treat Res Commun. 2023;34:100679. doi: 10.1016/j.ctarc.2022.100679. Epub 2023 Jan 2. Cancer Treat Res Commun. 2023. PMID: 36610347 Free article.
Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein expression were markedly downregulated (p 0.05) in the POIKTMP-patient's fibroblasts. The PCR-RFLP method successfully genotyped Y621D gene …
Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein express …
Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
Naicker D, Rhoda C, Sunda F, Arowolo A. Naicker D, et al. Int J Mol Sci. 2024 Feb 29;25(5):2845. doi: 10.3390/ijms25052845. Int J Mol Sci. 2024. PMID: 38474092 Free PMC article. Review.
Apart from being involved in DNA repair, FAM111B, a paralog of FAM111A, participates in cell cycle regulation and apoptosis. It influences the apoptotic pathway by upregulating anti-apoptotic proteins and modulating cell cycle-related proteins. ...FAM111A and …
Apart from being involved in DNA repair, FAM111B, a paralog of FAM111A, participates in cell cycle regulation and apoptosis. It influ …
Mutations of FAM111B gene are not associated with Systemic Sclerosis.
Gcelu A, Deshpande G, Shaboodien G, Spracklen TF, Kalla A, Tikly M, Mayosi BM, Hodkinson B. Gcelu A, et al. Sci Rep. 2018 Oct 30;8(1):15988. doi: 10.1038/s41598-018-34341-7. Sci Rep. 2018. PMID: 30375432 Free PMC article.
Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence similarity 111, member B (FAM111B) gene cause hereditar …
Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutat …
FAM111B enhances glycolysis and promotes metastasis of prostate cancer by upregulating LDHA.
He Q, Li H, Cong Y, Chen K, Cheng L, Lv F, Zhang P, Ju Y, Yu Z, Chen J, Wang C, Song Y, Li X, Chen L, Xing Y. He Q, et al. Neoplasia. 2025 Nov;69:101227. doi: 10.1016/j.neo.2025.101227. Epub 2025 Sep 20. Neoplasia. 2025. PMID: 40975977 Free PMC article.
Mechanistically, the expression of P27 was inhibited by a hydrolytic triad coded by the functional coding region of FAM111B, which activated Cyclin-CDKs/RB/E2F1 classical signaling pathway to promote the transcription and protein expression of LDHA. CONCLUSIONS: The …
Mechanistically, the expression of P27 was inhibited by a hydrolytic triad coded by the functional coding region of FAM111B, which ac …
PRIM2 promotes proliferation and metastasis of pancreatic ductal adenocarcinoma through interactions with FAM111B.
Yin J, Qin F, Chen H, Wang X, Xia R, Ni B, Wang H. Yin J, et al. Med Oncol. 2024 Nov 18;42(1):6. doi: 10.1007/s12032-024-02554-8. Med Oncol. 2024. PMID: 39556158
Cell assays and xenograft model confirmed the phenotypes. Co-Immunoprecipitation (Co-IP) and protein stability assays were used for protein interactions. RESULTS: Inhibiting PRIM2 resulted in decreased proliferation and migration both in vitro and in vivo. PRIM2 upr …
Cell assays and xenograft model confirmed the phenotypes. Co-Immunoprecipitation (Co-IP) and protein stability assays were used for …
A Boolean model of the oncogene role of FAM111B in lung adenocarcinoma.
Gupta S, Silveira DA, Hashimoto RF. Gupta S, et al. Comput Biol Chem. 2023 Oct;106:107926. doi: 10.1016/j.compbiolchem.2023.107926. Epub 2023 Jul 14. Comput Biol Chem. 2023. PMID: 37487252
However, the molecular mechanisms involving p53 and FAM111B in G2/M checkpoint regulation are still unknown. Thus, we present a Boolean model of the G2/M checkpoint considering the effect of p53 and FAM111B. ...Our model supports that FAM111B is an engaging t …
However, the molecular mechanisms involving p53 and FAM111B in G2/M checkpoint regulation are still unknown. Thus, we present a Boole …
Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma.
Gong Q, Dong Q, Zhong B, Zhang T, Cao D, Zhang Y, Ma D, Cai X, Li Z. Gong Q, et al. J Clin Lab Anal. 2022 Dec;36(12):e24784. doi: 10.1002/jcla.24784. Epub 2022 Nov 21. J Clin Lab Anal. 2022. PMID: 36408702 Free PMC article.
AIMS: This study aims to investigate the expression and clinical significance of Family with sequence similarity 111 member B (FAM111B) in PAAD. MATERIALS & METHODS: Bioinformatics was used to analyze the relationship be …
AIMS: This study aims to investigate the expression and clinical significance of Family with sequence similarity …
47 results