publication . Doctoral thesis . 2007

Molecular causes and consequences of genetic instability with respect to the FA/BRCA Caretaker Pathway

Neveling, Kornelia;
Open Access English
  • Published: 01 Jan 2007
  • Country: Germany
In the context of this thesis, I investigated the molecular causes and functional consequences of genetic instability using a human inherited disease, Fanconi anemia. FA patients display a highly variable clinical phenotype, including congenital abnormalities, progressive bone marrow failure and a high cancer risk. The FA cellular phenotype is characterized by spontaneous and inducible chromosomal instability, and a typical S/G2 phase arrest after exposure to DNA-damaging agents. So far, 13 genes have been identified, whose biallelic (or, in the case of X-linked FANCB, hemizygous) mutations cause this multisystem disorder. The FA proteins interact in a multiprot...
free text keywords: Fanconi-Anämie, DNS-Reparatur, Chromosomenbruch, Blasentumor, Brustkrebs, Methylierung, ddc:570
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