Dominant glaucoma, a heterogeneous, infrequent and irreversible optic neuropathy, is often associated with elevated intraocular pressure and early-onset. The role of FOXC1 in this type of glaucoma was investigated in twelve Spanish probands via nucleotide variation screening of its proximal promoter and unique exon. Functional evaluations of the identified variants included analyses of the tran...

OBJECTIVE Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). METHODS AND RESULTS We sequenced the coding, 5'UTR, and ...

Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation...

BACKGROUND Recent studies have shown that in the developing embryo, arterial and venous identity is established by genetic mechanisms before circulation begins. Vascular endothelial growth factor (VEGF) signaling and its downstream Notch pathway play critical roles in arterial cell fate determination. We have recently shown that Foxc1 and Foxc2, two closely related Fox transcription factors, ar...

Mouse Foxc1 (previously Mf1) is a member of the conserved forkhead/winged helix transcription factor gene family. It is expressed in many mesodermal tissues including paraxial mesoderm of the trunk and head, prechondrogenic mesenchyme, branchial arches and developing kidney. Homozygous mutants die perinatally with hydrocephalus and skeletal, cardiovascular, ocular and genitourinary defects. Her...

PURPOSE To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were f...

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...

Abstract Background Human adipose-derived stem cells (hADSCs) are with the potential to differentiate in multiple directions. miR-204-5p is expressed at low levels during osteogenic differentiation of hADSCs, and its specific regulatory mechanism remains unclear. Here, we aimed explore function possible molecular hADSCs. Methods The expression patterns miR-204-5p, Runx2 , alkaline phosphatase (...