Browsing Human- und Zahnmedizin by Referee "Pauli, Silke J. Prof. Dr."
Now showing items 1-3 of 3
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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 ... -
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 ...