Expanding phenotype of <scp> <i>FAM111B</i> </scp> ‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym-Reference-Cited by-同舟云学术

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

Published:2022-07-23 Issue:10 Volume:188 Page:2920-2931
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Macchiaiolo Marina¹^ORCID,Panfili Filippo M.²³^ORCID,Vecchio Davide¹,Cortellessa Fabiana¹,Gonfiantini Michaela V.¹,Buonuomo Paola S.¹^ORCID,Pietrobattista Andrea⁴,Francalanci Paola⁵,Travaglini Lorena⁶,Bertini Enrico S.⁶,El Hachem Maya⁷,Bartuli Andrea¹

Affiliation:

1. Rare Diseases and Medical Genetics Unit University‐Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS Rome Italy

2. Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCCS Rome Italy

3. School of Pediatrics University of Tor Vergata Rome Italy

4. Division of Gastroenterology, Hepatology and Nutrition Bambino Gesù Children's Hospital IRCCS Rome Italy

5. Department of Pathology, Bambino Gesù Children's Hospital Scientific Institute for Research, Hospitalization, and Health Care Rome Italy

6. Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience Children's Hospital Bambino Gesù, IRCCS Rome Italy

7. Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62906

Reference13 articles.

1. Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese

2. Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis ( POIKTMP ): a case series of 28 patients

3. Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

4. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

5. 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

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1. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

2. Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia;Frontiers in Genetics;2023-12-22

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

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

5. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length;2023-01-23