Connexin46fs380 Causes Progressive Cataracts
نویسندگان
چکیده
منابع مشابه
Progressive dehydration causes a progressive decline in basketball skill performance.
PURPOSE To determine the effect of 1, 2, 3, and 4% dehydration (DEH) versus euhydration (EUH) on basketball performance in adult male players. METHODS Seventeen 17- to 28-yr-old male basketball players completed 3 h of interval treadmill walking (40 degrees C and 20% relative humidity) with or without fluid replacement. Subjects completed six trials in random order: 1) EUH with a carbohydrate...
متن کاملProgressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
Cataracts are a significant public health problem. Here, we describe the genetic alteration responsible for a progressive form of cataract, segregating as an autosomal dominant trait in a three-generation pedigree. Unlike most autosomal dominant cataracts, these are not clinically apparent at birth but are initially observed in the first year or two of life. The opacification evolves relatively...
متن کاملA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
PURPOSE To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts. METHODS Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation. RESULTS Lens examination in the affected members revealed ...
متن کاملNonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts
PURPOSE We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail. METHODS Clinical and ophthalmologic examinations were conducted on family members. All members were genotyped with microsatellite markers at loci previously associated with cata...
متن کاملCastration Causes Progressive Reduction of Length of the Rabbit Penis
Androgenic hormones are important in normal embryonic development and maintenance of the structural integrity of the penis. This structural integrity is vital in the physiology of penile erection. Its alteration may therefore lead to functional impairment resulting in erectile dysfunction as seen in hypogonadic conditions. The link between hypogonadism and erectile dysfunction is partly anatomi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2014
ISSN: 1552-5783
DOI: 10.1167/iovs.14-15012