Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to
TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited …

Evolutionary medicine, which integrates evolutionary biology and medicine, significantly
enhances our understanding of human traits and disease susceptibility. However, previous …

Resolving the molecular basis of a Mendelian condition remains challenging owing to the
diverse mechanisms by which genetic variants cause disease. To address this, we …

The centromere is the chromosomal locus that recruits the kinetochore, directing faithful
propagation of the genome during cell division. Using cryo-ET on human mitotic …

Ribosomal RNA (rRNA) genes exist in multiple copies arranged in tandem arrays known as
ribosomal DNA (rDNA). The total number of gene copies is variable, and the mechanisms …

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to
the diverse mechanisms by which genetic variants cause disease. To address this, we …

Most human cells contain two non-identical genomes, and differences in their regulation
underlie human development and disease. We demonstrate that Fiber-seq Inferred …

Great apes have maintained a stable karyotype with few large-scale rearrangements; in
contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident …