Precise spatiotemporal expression of the Nodal-Lefty-Pitx2 cascade in lateral plate mesoderm establishes left–right axis, which provides vital cues for correct organ formation and function. Mutations one constituent PITX2 and, separately, Forkhead transcription factor FOXC1 independently cause a multi-system disorder known as Axenfeld–Rieger syndrome (ARS). Since cardiac involvement is an estab...

In recent years, rapidly accumulating evidence implicates forkhead box C1 (FOXC1) in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that FOXC1 is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The FO...

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle...

The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical forms hereditary single nucleotide polymorphisms identified by genome-wide association studies (GWAS). Glaucoma a genetically heterogeneous disease, patients with same diagnosis often have different molecular causes. role mutations in CYP1B1 gene has been proven pathogenesis hydrophthalmos; MYOC — juve...