Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2).
Showing 2 out of 4 products:
Mutations in the FANCA gene are associated with esophageal atresia and tracheoesophageal fistula in humans.
the current study was the first to report a promoter region variation in the FANCA gene among women with breast cancer in Iran. The results of the present study confirmed the allelic variants in the FANCA promoter region as a tumor suppressor gene.
we show that although FANCA S1088F protein properly localizes to the nucleus, it alters FANC complex function, enhances sensitivity to DNA damaging agents, and sensitizes cells to PARP (show COL11A2 ELISA Kits) inhibitors in vitro and in vivo.
FancA amplification and overexpression appear to be crucial for radiotherapeutic failure in head and neck squamous cell carcinomas.
High resolution melting curve analysis was used to screen FANCA, and LinReg software version 1.7 was utilized for analysis of expression. RESULTS: In total, six sequence alterations were identified, which included two stop codons, two frames-shift mutations, one large deletion and one amino acid exchange. FANCA expression was downregulated in patients who had sequence alterations.
Results identified homozygous mutations in FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy of the entire mutation-carrying chromosome 16 in all four patients.
Using human and murine cells defective in FANCD2 (show FANCD2 ELISA Kits) or FANCA and primary bone marrow cells derived from FANCD2 (show FANCD2 ELISA Kits) deficient mice, we show that the FA pathway removes R loops and that many DNA breaks accumulated in FA cells are R loop-dependent.
FANCA safeguards interphase and mitosis during hematopoiesis
The I939S point mutation prevented binding to the FAAP20 subunit of the FA core complex, caused SUMOylation at K921, RNF4 (show RNF4 ELISA Kits)-mediated polyubiquitination and degradation.
A frameshifting mutation and a truncating mutation of FANCA are associated with Fanconi anemia (show PALB2 ELISA Kits).
Fanca(-/-) mice showed a skewed Vkappa gene usage.
study indicates that Fanca expression during endomitosis is crucial for normal megakaryopoiesis and platelet production.
Data show that Fanconi anemia complementation group A Fanca is required for the induction of transition mutations at A/T residues during somatic hypermutation (SHM (show CNTNAP1 ELISA Kits)) and immunoglobulin (Ig) class switch recombination (CSR (show SCARA3 ELISA Kits)).
CD25 (show IL2RA ELISA Kits)(+)Foxp3 (show FOXP3 ELISA Kits)(+) Tregs of Fanca(-/-) or Fancd2 (show FANCD2 ELISA Kits)(-/-) mice were less efficient in suppressing the production of GVHD-associated inflammatory cytokines.
null mutations in Fanca or Fancg (show FANCG ELISA Kits) are fully epistatic
genetic diversity in FANCA, FANCC and FANCL (show FANCL ELISA Kits) does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
The results support a model where both FANCA and FANCC are part of a multi-protein nuclear FA complex with identical function in cellular responses to DNA damage and germ cell survival.
To study the in vivo role of the FA group A gene (Fanca), gene-targeting techniques were used to generate Fanca(tm1Hsc) mice in which Fanca exons 1-6 were replaced by a beta-galactosidase (show GLB1 ELISA Kits) reporter construct.
GnRH (show GNRH1 ELISA Kits) induced a rapid, transient increase in Fanca mRNA.
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity\; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.
Fanconi anemia group A protein
, Fanconi anemia, complementation group H
, Fanconi anemia, type 1
, Fanconi anemia group A protein homolog