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Two novel variants in associated with anophthalmia and congenital cystic eye.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Unidade de Saúde Local de São João, Porto, Portugal.
Purpose: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition.
Methods: A thorough ophthalmic examination was performed.
Maternal immunization impairs lymphoma growth and CNS/ocular metastasis in the offspring.
Front Immunol
January 2025
Alexander Silberman Institute of Life Science, The Hebrew University of Jerusalem, Jerusalem, Israel.
Maternal immunization is an important tool directed against a variety of infectious maladies in the offspring. A complementary, but less explored area is the use of maternal immunization in the prevention and treatment of childhood cancers. This in part stems from the lack of adequate experimental model systems.
View Article and Find Full Text PDFEffects of FGFR2b-ligand signaling on pancreatic branching morphogenesis and postnatal islet function.
J Mol Histol
December 2024
National Clinical Research Center for Ocular Disease, School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, 270 West Xueyuan Road, Wenzhou, 325027, Zhejiang, China.
Pancreatic development is a complex process vital for maintaining metabolic balance, requiring intricate interactions among different cell types and signaling pathways. Fibroblast growth factor receptors 2b (FGFR2b)-ligands signaling from adjacent mesenchymal cells is crucial in initiating pancreatic development and differentiating exocrine and endocrine cells through a paracrine mechanism. However, the precise critical time window that affects pancreatic development remains unclear.
View Article and Find Full Text PDFMicrophthalmia and Disrupted Retinal Development Due to a Knock-in/Knock-Out Allele at the Locus.
Eye Brain
November 2024
Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Purpose: Visual System Homeobox 2 () is a transcription factor expressed in the developing retina that regulates tissue identity, growth, and fate determination. Several mutations in the gene exist in mice, including a spontaneous nonsense mutation and two targeted missense mutations originally identified in humans. Here, we expand the genetic repertoire to include a reporter allele ( ) designed to express beta-Galactosidase (bGal) and simultaneously disrupt function (knock-in/knock-out).
View Article and Find Full Text PDFAnkyrin-B is required for the establishment and maintenance of lens cytoarchitecture, mechanics and clarity.
J Cell Sci
December 2024
Department of Ophthalmology, Duke University School of Medicine, Durham, NC 27710, USA.
Article Synopsis
- The transparent ocular lens focuses light onto the retina and its cellular structure is crucial for vision, but the molecular processes behind it are not well understood.
- This study investigates ankyrin-B (AnkB), a protein important for maintaining lens structure and function, using a conditional knockout mouse model.
- Findings reveal that without AnkB, the lens maintains its initial shape but drastically loses clarity, size, and mechanical properties, leading to cataract formation and degradation of key membrane proteins.
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