Literature DB >> 30938824

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

Fuying Chen1, Luyao Zheng, Yue Li, Huaguo Li, Zhirong Yao, Ming Li.   

Abstract

Entities:  

Keywords:  FAM111B; POIKTMP; poikiloderma

Year:  2019        PMID： 30938824     DOI： 10.2340/00015555-3186

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  5 in total

Review 1.  Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.

Authors:  Afolake Arowolo; Cenza Rhoda; Nonhlanhla Khumalo
Journal:  Exp Dermatol       Date:  2022-02-13       Impact factor: 4.511

Review 2.  Challenges and perspectives of tendon-derived cell therapy for tendinopathy: from bench to bedside.

Authors:  Ziming Chen; Peilin Chen; Monica Zheng; Junjie Gao; Delin Liu; Allan Wang; Qiujian Zheng; Toby Leys; Andrew Tai; Minghao Zheng
Journal:  Stem Cell Res Ther       Date:  2022-09-02       Impact factor: 8.079

3.  Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review.

Authors:  Yuhao Wu; Long Wen; Peiru Wang; Xiuli Wang; Guolong Zhang
Journal:  Front Genet       Date:  2022-08-25       Impact factor: 4.772

Review 4.  Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.

Authors:  Afolake Arowolo; Moses Malebana; Falone Sunda; Cenza Rhoda
Journal:  Front Oncol       Date:  2022-07-04       Impact factor: 5.738

Review 5.  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.

Authors:  Marina Macchiaiolo; Filippo M Panfili; Davide Vecchio; Fabiana Cortellessa; Michaela V Gonfiantini; Paola S Buonuomo; Andrea Pietrobattista; Paola Francalanci; Lorena Travaglini; Enrico S Bertini; Maya El Hachem; Andrea Bartuli
Journal:  Am J Med Genet A       Date:  2022-07-23       Impact factor: 2.578
  5 in total

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