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Expression of PAX6 and Keratocyte-Characteristic Markers in Human Limbal Stromal Cells of Congenital Aniridia and Healthy Subjects, .
Curr Eye Res
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Saar, Germany.
Purpose: Our aim was to examine the expression of PAX6 and keratocyte-specific markers in human limbal stromal cells (LSCs) in congenital aniridia (AN) and in healthy corneas, .
Methods: Primary human LSCs were extracted from individuals with aniridia (AN-LSCs) ( = 8) and from healthy corneas (LSCs) ( = 8). The cells were cultured in either normal-glucose serum-containing cell culture medium (NGSC-medium) or low-glucose serum-free cell culture medium (LGSF-medium).
Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.
Ophthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
View Article and Find Full Text PDFImpact of c-JUN deficiency on thalamus development in mice and human neural models.
Cell Biosci
December 2024
Key Laboratory of Biological Targeting Diagnosis, Therapy and Rehabilitation of Guangdong Higher Education Institutes, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Article Synopsis
- c-Jun is essential for regulating gene expression and plays a significant role in embryonic development, particularly in the nervous system, yet its effects on deep brain structures like the thalamus are not well understood.
- Using c-Jun knockout (KO) models and various cell cultures, researchers investigated its impact on nervous system development, revealing that c-Jun KO mice exhibited underdeveloped thalamus structures and disrupted neuronal connectivity.
- The study concluded that the absence of c-JUN leads to impaired nerve fiber extension and abnormal thalamus patterning, highlighting the importance of c-JUN in embryonic neural development.
Potential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.
Semin Ophthalmol
December 2024
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Center, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Background: The anterior segment of the eye plays a crucial role in maintaining the normal intraocular pressure and vision. Developmental defects in the anterior segment structures lead to anterior segment dysgenesis (ASD) and primary congenital glaucoma (PCG), which share overlapping clinical features. Several genes have been mapped and characterized in ASD, some of which are also involved in other glaucoma phenotypes.
View Article and Find Full Text PDFTwo coacting shadow enhancers regulate twin of eyeless expression during early Drosophila development.
Genetics
January 2025
Biology Department, Clark University, 950 Main Street, Worcester, MA 01610, USA.
The Drosophila PAX6 homolog twin of eyeless (toy) sits at the pinnacle of the genetic pathway controlling eye development, the retinal determination network. Expression of toy in the embryo is first detectable at cellular blastoderm stage 5 in an anterior-dorsal band in the presumptive procephalic neuroectoderm, which gives rise to the primordia of the visual system and brain. Although several maternal and gap transcription factors that generate positional information in the embryo have been implicated in controlling toy, the regulation of toy expression in the early embryo is currently not well characterized.
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