Publications by authors named "U Broeckel"
(1) Background: The exact etiology for gastroschisis, the most common abdominal defect, is yet to be known, despite the rising prevalence of this condition. The leading theory suggests an increased familial risk, indicating a possible genetic component possibly in the context of environmental risk factors. This systematic review aims to summarize the studies focused on the identification of a potential genetic etiology for gastroschisis to elucidate the status of the field.
View Article and Find Full Text PDFImportance: The clinical utility of polygenic risk scores (PRS) for blood pressure (BP) response to antihypertensive treatment (AHT) has not been elucidated.
Objective: To investigate the ability of a systolic BP (SBP) PRS to predict AHT response and apparent treatment-resistant hypertension (aTRH).
Design, Setting, And Participants: The Genetics of Hypertension Associated Treatments (GenHAT) study was an ancillary pharmacogenomic study to the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT).
Article Synopsis
- - The DPYD gene is crucial for encoding dihydropyrimidine dehydrogenase (DPD), which helps metabolize drugs like 5-fluorouracil used in cancer treatment; reduced DPD activity can lead to severe side effects in patients.
- - To improve pharmacogenetic testing for DPYD, a collaboration among various organizations created and distributed 33 characterized DNA samples from Coriell cell lines to different laboratories for testing.
- - These samples allowed the identification of 33 distinct DPYD variants and are intended to enhance quality assurance and control in clinical testing for better patient safety in cancer treatment.
Article Synopsis
- Researchers created a heart-on-a-chip model to study how SARS-CoV-2 affects heart function, especially in patients with existing heart conditions, using human stem cell-derived heart cells.
- The study found that COVID-19 caused significant heart damage, worsening when combined with angiotensin II, leading to reduced heart contractions and increased inflammation.
- Extracellular vesicles from stem cells showed potential to protect heart function by reducing damage and enhancing certain gene activities, with specific microRNAs identified as key factors in this protective effect.
Human induced pluripotent stem cells (hiPSCs) are frequently used to study disease-associated variations. We characterized transcriptional variability from a hiPSC-derived cardiomyocyte (hiPSC-CM) study of left ventricular hypertrophy (LVH) using donor samples from the HyperGEN study. Multiple hiPSC-CM differentiations over reprogramming events (iPSC generation) across 7 donors were used to assess variabilities from reprogramming, differentiation, and donor LVH status.
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