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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 (show MRPL36 ELISA Kits), and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk.
Germline mutation in BRIP1 (show MRPL36 ELISA Kits) 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 (show RAB1A ELISA Kits) function by directly targeting BRCA1-interacting protein 1 (show MRPL36 ELISA Kits) in cervical cancer.
we showed the essential role of HP1 (show DEFA1 ELISA Kits) in regulating HR through BRCA1/BARD1 (show BARD1 ELISA Kits)-mediated accumulation of FANCJ and CtIP (show RBBP8 ELISA Kits) 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 (show MRPL36 ELISA Kits) was associated with risk of squamous cell carcinoma of the head and neck.
BRIP1 (show MRPL36 ELISA Kits) 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 (show FANCD2 ELISA Kits)/FANCI (show FANCI ELISA Kits) proteins and protects them from proteasome and caspase-3 (show CASP3 ELISA Kits) dependent degradation.
Fancj helicase-deficient mice, while phenotypically resembling Fanconi anemia (show PALB2 ELISA Kits) (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 (show DNA2 ELISA Kits) 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