Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez +4 more
wiley +1 more source
Identification of transposable elements and satellite DNA in the Neotropical species Drosophila amaguana from the Ecuadorian Andean Forests. [PDF]
Coba-Males MA +3 more
europepmc +1 more source
Evolutionary dynamics of transposable elements and satellite DNAs in polyploid Spartina species
Delphine Giraud +9 more
openalex +2 more sources
Impacts of large herbivores on mycorrhizal fungal communities across the Arctic
Mycorrhizal fungi play an integral role in nutrient and carbon cycling in soils, which may be especially important in the Arctic, one of the world's most soil carbon‐rich regions. Large mammalian herbivores can influence these fungi through their impacts on vegetation and soil conditions, however the strength and prevalence of these interactions in the
Cole G. Brachmann +25 more
wiley +1 more source
Cellular insights into transposable elements in Alzheimer's disease. [PDF]
Kumar V, Beck S.
europepmc +1 more source
Abstract As a part of the International Workshop on Genotoxicity Testing (IWGT) in 2022, a workgroup was formed to evaluate the level of validation and regulatory acceptance of transcriptomic biomarkers that identify genotoxic substances. Several such biomarkers have been developed using various molecular techniques and computational approaches. Within
Matthew J. Meier +7 more
wiley +1 more source
Temperature and genetic background drive mobilization of diverse transposable elements in a global human fungal pathogen. [PDF]
Mackey AI +8 more
europepmc +1 more source
Mammary Tumor Virus DNA: A Glucocorticoid-responsive Transposable Element
K R, Yamamoto +3 more
openaire +2 more sources
Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1
Abstract Objective Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, even within families. We studied the potential role of APOE ε4 in modifying phenotypic diversity in EPM1, given its established
Janina Gunnar +10 more
wiley +1 more source
Expression of endogenous retroviral elements is associated with extracellular matrix remodeling in prostate cancer. [PDF]
Williams EC +4 more
europepmc +1 more source

