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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). Zusätzlich bieten wir Ihnen Fanconi Anemia, Complementation Group B Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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We identified a 9154 bp intragenic duplication in FANCB (zeige BRCA2 Antikörper), covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB (zeige BRCA2 Antikörper) protein (p.A319*).
Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function.
Loss-of-function FANCB (zeige BRCA2 Antikörper) mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis.
Inactivation of FancB (zeige BRCA2 Antikörper) may play a role in the pathogenesis of sporadic HNSCC.
Elevated serum FA-2 was associated with bony metastases from breast cancer.
the protein defective in individuals with Fanconi anemia (zeige PALB2 Antikörper) belonging to complementation group B is an essential component of the nuclear protein (zeige RDBP Antikörper) 'core complex' responsible for monoubiquitination of FANCD2 (zeige FANCD2 Antikörper)
summary of recent advances in the Fanconi anemia (zeige PALB2 Antikörper)-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB (zeige BRCA2 Antikörper) gene [review]
Mutations in FANCB (zeige BRCA2 Antikörper) are a cause of X linked VACTERL-H syndrome.
Mus81 (zeige MUS81 Antikörper) and FANCB (zeige BRCA2 Antikörper) have different roles in repair of DNA damage during replication in human cells
Our results rule out a major contribution of FANCB (zeige BRCA2 Antikörper) to hereditary breast cancer.
Data suggest that Fanconi anemia complementation group B protein (zeige LEPREL2 Antikörper) Fancb(-/y) mouse model for studying the Fanconi anemia (zeige PALB2 Antikörper) (FA) pathway not only in germ cell development but also in the maintenance of hematopoietic stem cell (HSC (zeige FUT1 Antikörper)) function.
FANCB functions at critical stages of germ cell development and reveal a novel function of the FA pathway in the regulation of H3K9 methylation in the germline.
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 B. Alternative splicing results in two transcript variants encoding the same protein.
Fanconi anemia group B protein
, Fanconi anemia-associated polypeptide of 95 kDa
, Fanconi anemia group B protein homolog