Browsing Molekulare Medizin by Advisor & Referee "Emmert, Steffen Prof. Dr."
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Functional relevance of spontaneous alternative splice variants of xeroderma pigmentosum genes: Prognostic marker for skin cancer risk and disease outcome?
(2017-05-05)The nucleotide excision repair (NER) pathway is a central DNA repair mechanism to repair a variety of bulky DNA lesions. Accumulation of these types of damage all over the genome results in the development of a cancer prone ... -
The role of SNAP29 during epidermal differentiation
(2015-12-11)The human CEDNIK syndrome is caused by loss-of-function mutations in the SNAP29 gene, encoding a member of the SNARE family of proteins. So far, no Snap29-deficient mammalian animal models have been described for this rare ... -
Characterization of the multifunctional XPG protein during Nucleotide-excision-repair
(2014-06-03)Xeroderma pigmentosum (XP), a cancer model disease, is the perfect proof for the existing model of carcinogenesis activated by mutations. All patients share a defect in Nucleotide excision repair (NER). The gene, which is ...