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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

Young, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, Fatemeh

PURPOSE. Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diverse populations, with low penetrance explained by variable dysgenesis of Schlemm’s canal (SC) in mice. We report ei...


Assessment of the Geographic Origins of Pinewood Nematode Isolates via Single N...

Figueiredo, Joana; Simões, Maria José; Gomes, Paula; Barroso, Cristina; Pinho, Diogo; Conceição, I. L. P. M. da; Fonseca, Luís; Abrantes, I. M. O.

The pinewood nematode, Bursaphelenchus xylophilus, is native to North America but it only causes damaging pine wilt disease in those regions of the world where it has been introduced. The accurate detection of the species and its dispersal routes are thus essential to define effective control measures. The main goals of this study were to analyse the genetic diversity among B. xylophilus isolates from different...


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