Breast cancer is a highly heterogeneous disease with differences in histopathological and biological characteristics, variable prognoses, and response to therapy. Clinically, breast tumors are classified based on the ...

The complex and sophisticated neocortical circuits that mediate higher-order brain functions are assembled from an extraordinary variety of neuronal subtypes, each with distinct morphologies, output connectivity, and ...

Type 2 phosphatidylinositol-5-phosphate 4-kinase (PI5P4K) converts phosphatidylinositol-5-phosphate to phosphatidylinositol-4,5-bisphosphate. Mammals have three genes, PIP4K2A, PIP4K2B and PIP4K2C that encode the enzymes ...

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 ...

The congenital myopathies are a diverse group of inherited neuromuscular disorders that manifest as skeletal muscle weakness at birth or in infancy, and are classically defined by the predominant morphological features ...

Argonautes and their small RNA guides form an ancient partnership with diverse roles in controlling gene expression and preserving genome stability. In the fission yeast Schizosaccharomyces pombe, the Argonaute Ago1 acts ...

Development is the elegant and complex process by which a single celled embryo grows into a fully formed and functional adult. One of the major challenges in the process of development is that although each cell in an ...

Despite nearly complete understanding of the genetics of the β-hemoglobinopathies for several decades, definitive treatment options have lagged behind. Fetal hemoglobin (HbF) reinduction represents a “silver bullet” for ...

The human brain can be affected by many diseases during its development, and human genetics studies can illuminate the genetic etiology of these diseases, which is critical for understanding disease pathophysiology, improving ...

The monoaminergic neuromodulatory systems (including the noraderenergic, serotonergic, and dopaminergic neuronal systems) have long been thought of as the custodians of mental health. Dysfunction amongst these neural ...