WebJul 4, 2016 · Darius Ebrahimi-Fakhari, Lara Wahlster, Fabian Bartz, Jennifer Werenbeck-Ueding, Maria Praggastis, Jessie Zhang, Brigitte Joggerst-Thomalla, Susanne Theiss, Dirk Grimm, Daniel S. Ory, Heiko Runz, Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells, Human … WebSep 7, 2024 · The human proteome is a major source of therapeutic targets. Recent genetic association analyses of the plasma proteome enable systematic evaluation of the causal consequences of variation in plasma protein levels. Here we estimated the effects of 1,002 proteins on 225 phenotypes using two-sample Mendelian randomization (MR) and …
Phenome-wide Mendelian randomization mapping the influence …
WebHeiko Runz, is Director of Genetics at Merck Research Laboratories in Boston. He is a board-certified medical geneticist and basic scientist with a strong track record in clinical, … WebFeb 8, 2024 · Results 19% (27/140) of a pre-specified FinnGen subcohort were successfully recalled and completed the study. Hospital records largely validated registry entries. For 8/12 MCD patients, other reasons than AD were identified as underlying diagnosis. Cognitive measures correlated across platforms, with highest consistencies for dementia screening ... corey lajoie the crew
Re-contacting biobank participants: lessons from a pilot ... - medRxiv
WebSep 18, 2024 · Heiko Runz. View author publications. You can also search for this author in PubMed Google Scholar. Shih ... Web285. 2024. Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells. H Runz, J Rietdorf, I Tomic, M de … WebHeiko Runz, is Director of Genetics at Merck Research Laboratories in Boston. He is a board-certified medical geneticist and basic scientist with a strong track record in clinical, Mendelian and complex genetics, with specific expertise in Niemann-Pick Disease Type C. His research focus is on translating genetic discoveries into functional ... fancy military uniform