Literature DB >> 27406236

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

T Takeichi1,2, A Nanda3, H-S Yang4, C-K Hsu4,5, J Y-Y Lee4, H Al-Ajmi3, M Akiyama2, M A Simpson6, J A McGrath1.   

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Year:  2016        PMID： 27406236     DOI： 10.1111/bjd.14845

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  6 in total

1.  Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment.

Authors:  Jakub Tolar; Johann W Bauer; Daniel H Kaplan; Sancy A Leachman; John A McGrath; Amy S Paller; Kelly A Griffith-Bauer; Clara E Stemwedel; Molly F Kulesz-Martin
Journal:  J Invest Dermatol       Date:  2018-05-02       Impact factor: 8.551

2.  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.

Authors:  Raphaëlle Goussot; Megana Prasad; Corinne Stoetzel; Cédric Lenormand; Hélène Dollfus; Dan Lipsker
Journal:  JAAD Case Rep       Date:  2017-03-19

Review 3.  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

4.  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 5.  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 6.  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
  6 in total

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