Publications by authors named "S M Sailer"
Searches for new physics below twice the electron mass with GERDA.
Eur Phys J C Part Fields
September 2024
Article Synopsis
- A search for dark matter candidates in the mass range of 65 to 1021 keV was conducted using data from the GERDA experiment, focusing on energy depositions without detecting any significant signals above background noise.
- The study established stringent exclusion limits on dark photon and axion-like particle interactions with electrons, with specific constraints noted at a 150 keV mass level.
- Additional investigations into the decay rates of nucleons and electrons yielded lower lifetime limits for neutron, proton, and electron decay events at a 90% confidence interval.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene polymorphisms known.
Methods: The occurrence of MASLD in 7 and 10 year old siblings, one without classical risk factors and one with type 2 diabetes suggested a monogenic etiology and prompted next-generation sequencing. Exome sequencing was performed in the proband, both parents and both siblings.
Article Synopsis
- Diamond-Blackfan Anemia Syndrome (DBS) is a rare condition marked by bone marrow failure and various congenital anomalies, with RPL26 emerging as a key gene associated with it.
- The study involved patients with RPL26 variants, examining blood cell development and RPL26 expression in a patient’s cells.
- Findings indicated that RPL26 is linked to multiple congenital issues, especially radial ray anomalies, and bone marrow failure is not always present in DBS, broadening the understanding of the condition’s spectrum.
The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often, faulty centrosomes cause microcephaly, yet aberrant cilia may also be involved. Here, we show using a combination of approaches in human fibroblasts, zebrafish embryos and patient-derived cells that WDR4 facilitates cilium formation.
View Article and Find Full Text PDFPurpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis, aiming to generate a diagnostic biomarker.
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