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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Blood+Rev
2017 ; 31
(3
): 93-99
Nephropedia Template TP
gab.com Text
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Twit Text #
English Wikipedia
Recent discoveries in the molecular pathogenesis of the inherited bone marrow
failure syndrome Fanconi anemia
#MMPMID27760710
Mamrak NE
; Shimamura A
; Howlett NG
Blood Rev
2017[May]; 31
(3
): 93-99
PMID27760710
show ga
Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease
characterized by congenital abnormalities, progressive bone marrow failure (BMF),
and increased cancer risk during early adulthood. The median lifespan for FA
patients is approximately 33years. The proteins encoded by the FA genes function
together in the FA-BRCA pathway to repair DNA damage and to maintain genome
stability. Within the past two years, five new FA genes have been
identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and
REV7/FANCV-bringing the total number of disease-causing genes to 21. This review
summarizes the discovery of these new FA genes and describes how these proteins
integrate into the FA-BRCA pathway to maintain genome stability and critically
prevent early-onset BMF and cancer.
|BRCA1 Protein/genetics/metabolism
[MESH]
|Bone Marrow/*metabolism/*pathology
[MESH]
|DNA Damage
[MESH]
|DNA-Binding Proteins/genetics/metabolism
[MESH]
|Fanconi Anemia Complementation Group Proteins/genetics/metabolism
[MESH]