Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods We identified two families with a BRCA1 in-frame exon 20 duplication (Ex20dup). In one male individual, the varia...
If the individual also carries a damaged X chromosome, we assume that this imposes an additional cost that affects reproductive success. To calculate the overall fitness of the genotype, the fitness value associated with carrying the damaged X chromosome is multiplied by the fitness value associated ...
150 have not been previously identified; of these, 117 genes have one or more mouse orthologs; and of these, 76 genes are lacking reported phenotype information. Of the 76 novel genes lacking a reported mouse model, 7 genes encode
Finally, TBE treatment reduced microglial-mediated tau internalization in a dose-dependent manner (Fig. S5f), showing that TBE induces a phenotype similar to that seen with microglial REV-ERBα KO. To explore which lipid species were altered by TBE treatment in microglia, we performed lipidomic...
The Caenorhabditis elegans male exhibits a stereotypic behavioral pattern when attempting to mate. This behavior has been divided into the following steps: response, backing, turning, vulva location, spicule insertion, and sperm transfer. We and others h
responses in this model. In theRubcn−/−mouse model of kidney injury, a reduction in proteinuria was observed solely in male mice that also lacked MLKL [46], consistent with elevated testosterone contributing to sex bias in this phenotype. In an aged cohort of mice, femaleMlkl−/−...
Tug1lncRNA regulates gene expression intrans.aAdult tissue types and mouse embryonic fibroblasts (MEFs) used for RNA sequencing of wild-type (WT) andTug1−/−(KO) mice. For each tissue, the number of biological replicates per genotype and the number of upregulated and downregulated genes ...
individual cells were subjected to FACS using a gating strategy to collect cells with high autofluorescence at λ = 455 nm and negative staining with propidium iodide (i.e., viable cells) (Fig.2a). Using this procedure, we were able to collect about 5·105UV-positive cells from one...
Pollen size was slightly increased, in agreement with the well-known negative relationship between pollen number and size, even within the same genotype (Supplementary Fig. 9; Supplementary Table 9)14. The mutant phenotype was complemented by transforming a 4.3-kb genomic fragment of the Col-0 ...
Even though MBD4 does bind to methylated chromatin and is expressed in mature pollen (Supplementary Table 3), it does not have a TE-silencing phenotype in pollen. It seems possible that MBD4 plays a repressive role in other specific tissues or functions redundantly with unknown silencing ...