The establishment of proper proportions during development is essential for the final form and function of an organism. While much is known concerning the regulation of proliferation and differentiation, how the relative ...

Ribosomopathies such as Diamond-Blackfan anemia (DBA) and 5q- syndrome are human diseases characterized by heterozygous loss or mutation of ribosome-associated genes. Hallmarks of these diseases include a macrocytic anemia ...

Pseudomonas aeruginosa is an environmental bacterium and opportunistic human pathogen of major clinical significance. It is the principal cause of morbidity and mortality in patients with cystic fibrosis (CF) and a leading ...

Technology is a key driving force in the advancement of scientific discoveries. While DNA sequencing uncovered the blueprint of life encoded in the human genome, functional roles of sequence variants remain largely unknown. ...

Chronic liver diseases such as non-alcoholic fatty liver disease and alcoholic liver disease are significant health concerns worldwide. Despite knowledge of disease features and environmental causes, we lack understanding ...

The vast majority of metazoan species are invertebrates, which lack an adaptive immune system for defense against microbes. Instead, their innate immune system is sufficient for defense against pathogenic organisms, which ...

Cleft lip and/or palates (CL/P) are common congenital malformations, and mutations in the transcription factor IRF6 are the most significant genetic contributors to cleft pathogenesis. IRF6 is a master regulator of epithelial ...

In mammals, equalized gene dosage between the sexes is ensured by a process called X chromosome inactivation (XCI). XCI, mediated by the long noncoding RNA Xist, initiates early in female embryogenesis, both in extraembryonic ...

RAS genes are commonly mutated in human cancers and aberrant Ras activation drives tumorigenesis. However, RAS mutations are rare in breast cancer, despite frequent hyperactivation of Ras and its effectors, suggesting that ...

In mammals, DNA methylation in the form of 5-methylcytosine (5mC) can be actively reversed to unmodified cytosine through ten-eleven translocation (TET) dioxygenase-mediated oxidation of 5mC to 5-hydroxymethylcytosine ...