Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Mamrak, Nicholas E; Shimamura, Akiko; Howlett, Niall G

Mamrak, Nicholas E; Shimamura, Akiko; Howlett, Niall G.

Affiliation

Mamrak NE; Department of Cell and Molecular Biology, University of Rhode Island, 120 Flagg Road, Kingston, RI 02881, United States. Electronic address: nicholasmamrak@my.uri.edu.
Shimamura A; Dana-Farber Cancer Institute/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02215, United States. Electronic address: akiko.shimamura@childrens.harvard.edu.
Howlett NG; Department of Cell and Molecular Biology, University of Rhode Island, 120 Flagg Road, Kingston, RI 02881, United States. Electronic address: nhowlett@uri.edu.

Blood Rev ; 31(3): 93-99, 2017 05.

Article in En | MEDLINE | ID: mdl-27760710

Subject(s)

Bone Marrow/metabolism; Bone Marrow/pathology; Fanconi Anemia/etiology; Fanconi Anemia/metabolism; BRCA1 Protein/genetics; BRCA1 Protein/metabolism; DNA Damage; DNA-Binding Proteins/genetics; DNA-Binding Proteins/metabolism; Fanconi Anemia/pathology; Fanconi Anemia Complementation Group Proteins/genetics; Fanconi Anemia Complementation Group Proteins/metabolism; Genomic Instability; Homologous Recombination; Humans; Mad2 Proteins/genetics; Mad2 Proteins/metabolism; Mutation; Rad51 Recombinase/genetics; Rad51 Recombinase/metabolism; Signal Transduction; Ubiquitin/metabolism; Ubiquitin-Conjugating Enzymes/genetics; Ubiquitin-Conjugating Enzymes/metabolism

Key words

DNA repair; Fanconi anemia; Genome instability; Homologous recombination; Ubiquitin

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Marrow / Fanconi Anemia Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Blood Rev Year: 2017 Document type: Article

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