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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis
- A. Frattini, A. Pangrazio, A. Villa
- Medicine, BiologyJournal of bone and mineral research : the…
- 1 October 2003
Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive…
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma
GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina, and both genes functionally interact with known glaucoma disease genes.
Prevalence of amblyopia and strabismus in young singaporean chinese children.
The prevalence of amblyopia was similar, whereas the prevalence of strabismus was lower than in other populations, particularly in young Singaporean Chinese children.
Prevalence of refractive error in Singaporean Chinese children: the strabismus, amblyopia, and refractive error in young Singaporean Children (STARS) study.
The prevalences of myopia and astigmatism in young Singaporean Chinese children are high, but that of hyperopia is low, and age-related variation in myopia prevalence may be influenced by ocular development, environment, and/or testability.
Evidence that a locus for familial high myopia maps to chromosome 18p.
A genomewide screen was conducted to map the gene(s) associated with high, early-onset, autosomal dominant myopia, and evidence of significant linkage was found on chromosome 18p.
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
A meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance showed that 2 CCT-associated loci conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls.
Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children
Genetic factors may play a more substantial role in the development of early-onset myopia than key environmental factors, and neither near work nor outdoor activity was found to be associated with early myopia.
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
The CREAM consortium conducted genome-wide meta-analyses, which identified 16 new loci for refractive error in individuals of European ancestry and 8 were shared with Asians, and identified 8 additional associated loci.