Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …

Regulation of the microtubule cytoskeleton is of pivotal importance for neuronal
development and function. One such regulatory mechanism centers on microtubule plus …

Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic
testing results. Application of next‐generation sequencing technology in molecular genetic …

Human eye development is coordinated through an extensive network of genetic signalling
pathways. Disruption of key regulatory genes in the early stages of eye development can …

UFMylation is a highly conserved ubiquitin-like post-translational modification that catalyzes
the covalent linkage of UFM1 to its target proteins. This modification plays a critical role in …

Purpose: To identify potentially pathogenic variants (PPVs) in Chinese familial exudative
vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 …

Background/aims To identify KIF11 mutations in patients with familial exudative
vitreoretinopathy (FEVR) and to describe the associated phenotypes. Methods Mutation …

We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly
and chorioretinopathy. Whole-exome sequencing performed on one family with two affected …

KIF11 is one of the 45 family members of kinesin superfamily proteins that functions as a
motor protein in mitosis. Emerging evidence revealed that KIF11 plays pivotal roles in …