Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
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Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. Case report: A 21 year old Caucasian male from a Swiss family was investigated for decreasing central visual acuity asso ...
Aims: Inherited Retinal Disorders represent a difficult target for gene therapy. This study exploits the possibility of using CRISPR/Cas9-based gene editing in photoreceptor progenitors to prevent cell death. We performed all the experiments on Rd10 mice, ...
Lineage tracing is a basic concept in developmental biology, as well as diseases related to organ development. A reliable method to track cell lineages in human tissues has the potential to greatly contribute to the fields of oncogenesis, tissue renewal, a ...
To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of soma ...
We introduce an image reproduction model that retargets colors for printing purposes to ensure similar luminance perception under photopic and scotopic vision. Our model is based on the physiological functioning of the rod and cone cells in the retina in v ...
The monocarboxylate transporter 1 (MCT1) is highly expressed in the outer retina, suggesting that it plays a critical role in photoreceptors. We examined MCT1+/- heterozygotes, which express half of the normal complement of MCT1. The MCT1(+/-) retina devel ...
Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...
Fertility decline in central and eastern Europe (CEE) since the fall of the communist regimes has been driven by both stopping and postponement of childbearing: two processes that have been related to crisis and economic development, respectively. In the W ...
PurposeTo evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystr ...
