Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.03.097
Abstract: Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex… read more here.
Keywords: missense; mutations fanca; fanca; esophageal atresia ... See more keywords
A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001487
Abstract: Defects in genes involved in DNA damage repair (DDR) pathway are emerging as novel biomarkers and targets for new prostate cancer drug therapies. A previous report revealed an association between an exceptional response to cisplatin… read more here.
Keywords: dna damaging; increased sensitivity; germline fanca; sensitivity dna ... See more keywords
Does FANCA Assist CENP-E in Architectural Organization of Chromosomes at Spindle Equator?
Sign Up to like & getrecommendations! Published in 2018 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.2018.0709
Abstract: Fanconi anemia is a complex genetic disorder caused due to a mutation in one of at least 21 Fanconi anemia genes and characterized by developmental abnormalities, congenital malformation, genomic instability, and predisposition to cancer. Indeed,… read more here.
Keywords: fanca; cenp; fanconi anemia; spindle equator ... See more keywords