Future Perspectives about Genetics of Congenital Glaucoma

Hypodontia: genetics and future perspectives

Correspondence to: Pragna I Patel Institute for Genetic Medicine, Keck School of Medicine, University Of Southern California, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033, USA. Tel: +1 (323) 442 2751 Fax: +1 (323) 442 2764 E-mail: [email protected] Abstract Tooth development is a complex process of reciprocal interactions that we have only recently begun to understand. With the large number...

Molecular genetics of primary congenital glaucoma in Brazil.

PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG). METHODS PCG diagnosis was established by presence of buphthalmos in at least one affected eye and associated high intraocular pressures before the age of 3 years. CYP1B1 mutation screening of 52 patients with PCG was performed by SSCP and direct sequencing of PCR fragme...

The Genetics and the Genomics of Primary Congenital Glaucoma

The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal formation and maturation of the anterior s...

Congenital hyperinsulinism: current status and future perspectives

The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay. The improvement was made possible by the recent developments in the understanding of the molecular and pathological basis of CHI. Known etiologies include inactivating mutations of...

Membrane Engineering: Future Perspectives