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Cells expressing FANCJ pathological mutants exhibited defective sister chromatid recombination with an increased frequency of long-tract gene conversions.
Ttruncating variants in BRIP1 (显示 MRPL36 ELISA试剂盒), and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk.
Germline mutation in BRIP1 (显示 MRPL36 ELISA试剂盒) gene is associated with melanoma.
diverse endogenous microsatellite signals were also lost upon replication stress after FANCJ depletion, and in FANCJ null patient cells.
Findings collectively demonstrate that microRNA-543 exerts its oncogene (显示 RAB1A ELISA试剂盒) function by directly targeting BRCA1-interacting protein 1 (显示 MRPL36 ELISA试剂盒) in cervical cancer.
we showed the essential role of HP1 (显示 DEFA1 ELISA试剂盒) in regulating HR through BRCA1/BARD1 (显示 BARD1 ELISA试剂盒)-mediated accumulation of FANCJ and CtIP (显示 RBBP8 ELISA试剂盒) at DSB sites. This mechanism may affect tumorigenesis and chemosensitivity and is thus of high clinical significance.
A variant at a potentially functional microRNA-binding site in BRIP1 (显示 MRPL36 ELISA试剂盒) was associated with risk of squamous cell carcinoma of the head and neck.
BRIP1 (显示 MRPL36 ELISA试剂盒) might be the gene involved in the onset of breast cancer in families that do not show BRACA1/2 mutations (Review)
FANCJ protein is important for the stability of FANCD2 (显示 FANCD2 ELISA试剂盒)/FANCI (显示 FANCI ELISA试剂盒) proteins and protects them from proteasome and caspase-3 (显示 CASP3 ELISA试剂盒) dependent degradation.
Fancj helicase-deficient mice, while phenotypically resembling Fanconi anemia (显示 PALB2 ELISA试剂盒) (FA), are also hypersensitive to replication inhibitors and predisposed to lymphoma
FANCJ play roles in spermatogenesis at two stages: firstly in the proliferative activity that gives rise to the full complement of testicular spermatogonia and secondly in the establishment of appropriate crossovers numbers during prophase I.
Review of the functions and disease associations of human FANCJ.
Compares the human homolog to other members of the RecQ helicase (显示 DNA2 ELISA试剂盒) family
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations.
BRCA1 interacting protein C-terminal helicase 1
, fanconi anemia group J protein
, Fanconi anemia J
, complementation group J
, Fanconi anemia group J protein-like
, ATP-dependent RNA helicase BRIP1
, BRCA1-associated C-terminal helicase 1
, BRCA1-binding helicase-like protein BACH1
, BRCA1/BRCA2-associated helicase 1
, Fanconi anemia group J protein
, Fanconi anemia group J protein homolog