Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism ...

Understanding inheritance patterns in polyploid crops has long posed technical and financial challenges, particularly in species like tetraploid blueberry. This study introduces a cost-effective, ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

For many processes important for life such as cell division, cell migration, and the development of organs, the spatially and temporally correct formation of biological patterns is essential. To ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...

Genetic information in the DNA and modifications, such as DNA methylation, define the epigenetic landscape and phenotype and show both Mendelian and non-Mendelian heredity. Scientists have long known ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

Scientists have long known that the DNA code in genes is not the only way to pass genetic traits from parents to offspring. "Epigenetic" marks—chemical modifications to DNA that don't change the DNA ...