PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study.The detailed ocular presentations of the patients were recorded.Whole exome sequencing (BGI MGIEasy V4 chip) was used to detect the gene mutation.Sanger sequencing was performed to
Prevalence of Toxoplasma gondii infection among small mammals in Tatarstan, Russian Federation
Abstract Toxoplasma gondii is a zoonotic parasite with a wide host range that includes humans, domestic animals and wild animals.Small mammals serve as intermediate hosts for T.gondii and Safety Helmet may contribute to the persistence of this parasite in the environment.Mass mortality in wild animals and deaths in rare endemic species make the stu
Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils.Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause Congenital Contractural Arachnodactyly.Both are autosomal dominant disorders, and both disorders affect
Life-history traits in an evergreen Mediterranean oak respond differentially to previous experimental environments
Living organisms respond both to current and previous environments, which can have important consequences on population dynamics.However, there is little experimental evidence based on long-term field studies of the effects of previous environments on the performance of individuals.We tested the hypothesis that trees that establish under different
Ischemic colitis in a young patient with a history of COVID-19 infections: atypical case
As extrapulmonary manifestations of Coronavirus, it has been Other described patients developing gastrointestinal disorders that replace typical respiratory symptoms or others that debut with intestinal ischemia shortly after infection, however, the association between COVID-19 and ischemic colitis remains unclear.We present a young patient with th