Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

Objectives: To search for mutations in the Frizzled-4 gene (FZD4) in Chinese patients with familial exudative vitreoretinopathy (FEVR) and to delineate the mutation-associated clinical features.

Methods: Forty-eight Chinese patients with FEVR and 100 unrelated control subjects were recruited and had complete ophthalmic examinations performed. The coding regions of FZD4 were screened for mutations by polymerase chain reaction and direct sequencing.

[Both PIK3IP1 and its novel found splicing isoform, PIK3IP1-v1, are located on cell membrane and induce cell apoptosis].

Objective: To find novel isoform of PIK3IP1 and analyze their effects on cell viability, subcellular localization, and expression profile in cell lines.

Methods: RT-PCR was used to clone PIK3IP1 and its novel splicing isoform PIK3IP1-v1 from multi-tissue cDNA pool. By cell-based assays, we studied how PIK3IP1 and PIK3IP1-v1 affected the activity of Renila luciferase and morphological change in the HEK 293T cells.