Browsing Human- und Zahnmedizin by Advisor & Referee "Pauli, Silke J. Prof. Dr."
Now showing items 1-5 of 5
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FBRSL1 und seine Assoziation zum Polycomb-Komplex: Interaktionspartner und transkriptionaler Einfluss auf Zielgene
(2025-04-28)Zusammenfassung Englisch At the University of Göttingen three children with similar congenital symptoms were genetically tested, and variants in the FBRSL1-Gene were found in all of them. During my thesis work, I tested ... -
Einfluss früher medikamentöser Intervention auf Krankheitsverlauf und Zeitpunkt des Nierenversagens bei Patienten mit Alport-Syndrom mit einer p.(Gly624Asp)-Variante im COL4A5-Gen
(2023-07-13)Background: ACE-inhibitors (ACEis) and AT1-Antagonist (ARBs) have been established as an effective treatment of Alport syndrome (AS). However, it remained unclear at which stage therapy should be initiated. The present ... -
Varianten im FANCA-Gen bei Fanconi-Anämie-Patienten aus Pakistan im internationalen Vergleich
(2023-07-12)Fanconi anemia (FA) mostly shows an autosomal recessive inheritance, and in the case of Fanconi Anemia Complementation Group G (FANCG), it is inherited in an X-linked trait, while in Fanconi Anemia Complementation Group R ... -
Funktionelle Analysen zu Erkrankungen, die zu einer Dysfunktion/Fehlregulation ribosomaler Proteine führen
(2023-01-20)Ribosomopathies are characterized by impaired synthesis or function of ribosomes. Mutations in genes which code for components of the normal ribosomal biogenesis lead to these rare congenital diseases. Functional analyses ... -
Zusammenhänge zwischen TP53-Mutationsstatus, genetischer Instabilität und Prognose bei MDS und sekundärer AML mit komplex aberrantem Karyotyp
(2020-03-09)INTRODUCTION: In patients with MDS and secondary AML (sAML) complex aberrant karyotypes (≥ 3 clonal cytogenetic aberrations, CK) and mutations of TP53 are known to be prognostically adverse. There is evidence that TP53 ...