Literature DB >> 30744929

New Insights and Perspectives in Fanconi Anemia Research.

P Degan1, E Cappelli2, S Regis3, S Ravera4.   

Abstract

Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.
Copyright © 2019 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Fanconi anemia; cancer-prone disease; lipid metabolism; rare disease

Year:  2019        PMID: 30744929     DOI: 10.1016/j.molmed.2019.01.003

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  5 in total

1.  Sex-specific hepatic lipid and bile acid metabolism alterations in Fancd2-deficient mice following dietary challenge.

Authors:  Elizabeth S Moore; Erin K Daugherity; David I Karambizi; Bethany P Cummings; Erica Behling-Kelly; Deanna M W Schaefer; Teresa L Southard; Joseph W McFadden; Robert S Weiss
Journal:  J Biol Chem       Date:  2019-08-21       Impact factor: 5.157

2.  Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report.

Authors:  Anna Repczynska; Agata Pastorczak; Katarzyna Babol-Pokora; Jolanta Skalska-Sadowska; Malgorzata Drozniewska; Wojciech Mlynarski; Olga Haus
Journal:  Mol Cytogenet       Date:  2020-08-10       Impact factor: 2.009

3.  Mutated FANCA Gene Role in the Modulation of Energy Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell Carcinoma.

Authors:  Nadia Bertola; Paolo Degan; Enrico Cappelli; Silvia Ravera
Journal:  Cells       Date:  2022-07-30       Impact factor: 7.666

4.  A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.

Authors:  Enrico Cappelli; Nadia Bertola; Silvia Bruno; Paolo Degan; Stefano Regis; Fabio Corsolini; Barbara Banelli; Carlo Dufour; Silvia Ravera
Journal:  Metabolites       Date:  2021-12-21

Review 5.  DDRugging glioblastoma: understanding and targeting the DNA damage response to improve future therapies.

Authors:  Ola Rominiyi; Spencer J Collis
Journal:  Mol Oncol       Date:  2021-06-11       Impact factor: 6.603

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.