微小的表皮带与中线裂唇:一个罕见的面异常-第一个病例报告

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

The surface of the tongue is covered with various small bumps called papillae, which either distribute what has been ingested (filiform papillae) or contain the sensory taste (or gustatory) receptor cells (fungiform, circumvallate, and foliate papillae). Embedded within each taste-related papilla are the taste buds—clusters of 30 to 100 gustatory receptor cells.

The protrusion of the cell surface is an initial step for several cellular processes, including cell migration, phagocytosis, and neurite outgrowth. These membrane protrusions are a result of cytoskeletal rearrangement. The most  widely observed cell protrusions include lamellipodia, pseudopodia, filopodia, microvilli, invadopodia, and podosomes. These protrusions can be of two types — static or dynamic.
The microvilli, an example of stable protrusions, are finger-like projections with a...