Mutations within the putative protease domain of the human <i>FAM111B</i> gene may predict disease severity and poor prognosis: A review of POIKTMP cases-Reference-Cited by-同舟云学术

Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases

Published:2022-02-13 Issue:5 Volume:31 Page:648-654
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Experimental Dermatology

Author:

Arowolo Afolake¹^ORCID,Rhoda Cenza¹,Khumalo Nonhlanhla¹

Affiliation:

1. Hair and Skin Research Laboratory Division of Dermatology Groote Schuur Hospital and the Department of Medicine Faculty of Health Sciences University of Cape Town Cape Town South Africa

Funder

South African Medical Research Council

National Research Foundation

Medical Research Council

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14537

Reference19 articles.

1. 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

2. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

3. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

4. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

5. Syndromic inherited poikiloderma due to a de novo mutation in FAM 111B

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1. Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes;International Journal of Molecular Sciences;2024-08-29

2. Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance;Cellular Oncology;2023-09-06

3. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length;Frontiers in Cell and Developmental Biology;2023-06-05

4. Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas;International Journal of General Medicine;2023-05

5. Silencing of FAM111B inhibits tumor growth and promotes apoptosis by decreasing AKT activity in ovarian cancer;Experimental Biology and Medicine;2023-04-24