SnapShot: Fanconi Anemia and Associated Proteins | Zendy

Anderson T. Wang | Zendy; Agata Smogorzewska | Zendy

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SnapShot: Fanconi Anemia and Associated Proteins

Author(s) -

Anderson T. Wang,

Agata Smogorzewska

Publication year - 2015

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2014.12.031

Subject(s) - fanconi anemia , biology , genome instability , brca2 protein , genetics , bone marrow failure , snapshot (computer storage) , dna repair , cancer research , dna replication , dna damage , gene , dna , mutation , stem cell , haematopoiesis , germline mutation , computer science , operating system

Fanconi anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes. It is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in replication-dependent DNA interstrand crosslink repair pathway commonly referred to as the Fanconi anemia-BRCA pathway. This SnapShot presents the key factors involved.

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