Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood
renal‐and liver‐related morbidity and mortality. The clinical spectrum is widely variable …

Prostate cancer is a hormone-driven disease and its tumor cell growth highly relies on
increased androgen receptor (AR) signaling. Therefore, targeted therapy directed against …

Breast carcinogenesis is a multistep process involving both genetic and epigenetic changes.
Since epigenetic changes like histone modifications are potentially reversible processes …

Cancer is traditionally viewed as a primarily genetic disorder. However, it is now
increasingly apparent that epigenetic abnormalities play a fundamental role in cancer …

Aberrant epigenetic changes in DNA methylation and histone acetylation are hallmarks of
most cancers, whereas histone methylation was previously considered to be irreversible and …

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive
polycystic kidney disease (ARPKD). Background ARPKD is associated with mutations in the …

Demethylation at distinct lysine residues in histone H3 by lysine-specific demethylase 1
(LSD1) causes either gene repression or activation,. As a component of co-repressor …

In∼ 30% of families affected by colorectal adenomatous polyposis, no germline mutations
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of
hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a …

Background: Stratifying prostate cancer (PCa) patients into risk groups at time of initial
diagnosis enabling a risk-adapted disease management is still a major clinical challenge …