Learn More
Fly photoreceptor membranes were used to test the effect on defined biochemical reactions of light and of compounds causing photoreceptor excitation. Complementary electrophysiological studies examined whether putative second messengers excite the fly photoreceptor cells. This analysis revealed the following sequence of events: photoexcited rhodopsin(More)
AIMS To investigate the association between sequence variants in the promoter region of the oestrogen receptor-alpha (ER-alpha) gene and the angiographic severity of coronary artery disease (CAD). METHODS AND RESULTS We studied 503 subjects undergoing coronary angiography (mean age 63+/-12 years, 72% men, 28% women). Coronary artery disease extent was(More)
Measurement of light-dependent GTPase (EC 3.1.5.1) activity in a paradigm guided by electrophysiological experiments was used to examine the involvement of a guanine nucleotide binding protein in fly phototransduction. Cell-free membrane preparations of Musca eyes responded to blue light by a 10- to 20-fold increase in GTP-hydrolyzing activity. This(More)
Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate the genetic defects in patients with inherited retinal diseases (IRDs) using WES. WES was performed on 90 patient DNA samples from 68 families and 226 known genes for IRDs were analyzed. Sanger sequencing was(More)
Regeneration of mineralized tissues affected by chronic diseases comprises a major scientific and clinical challenge. Periodontitis, one such prevalent disease, involves destruction of the tooth-supporting tissues, alveolar bone, periodontal-ligament and cementum, often leading to tooth loss. In 1997, it became clear that, in addition to their function in(More)
PURPOSE To clinically characterize and genetically analyze members of six families who reside in the same village and manifest a rare form of retinal degeneration. METHODS Ophthalmic evaluation included a full clinical examination, perimetry, color vision testing, and electroretinography. Genomic DNA was screened for ABCA4 mutations with the use of(More)
PURPOSE To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia. METHODS A mother and her daughter of Ashkenazi-Jewish origin were diagnosed with aniridia. Blood samples were drawn from family members and DNA was analyzed by direct sequencing and microsatellite marker analysis. RESULTS The index patient and(More)
PURPOSE Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP) and are responsible for 16% to 35% of adRP cases in the Western population. Our(More)
Injuries to ligaments are common, painful and debilitating, causing joint instability and impaired protective proprioception sensation around the joint. Healing of torn ligaments usually fails to take place, and surgical replacement or reconstruction is required. Previously, we showed that in vivo application of the recombinant human amelogenin protein(More)
  • 1