Results 1 to 10 of about 3,305 (180)

Structural and Functional Insight into Intracameral Cefuroxime Ocular Toxic Syndrome (ICOTS) in Eyes with Disrupted Intraocular Barrier [PDF]

Ophthalmology and Therapy
Introduction Intracameral cefuroxime is commonly used as a prophylaxis against endophthalmitis following cataract surgery. While its effectiveness is well-documented, concerns remain regarding potential toxicity.
Andrea Cusumano, Marco A. Pileri, Benedetto Falsini, Massimo Cesareo, Michele D’Ambrosio, Fabian D’Apolito, Francesco Martelli, Marco Lombardo   +7 more
doaj   +2 more sources

Genoma

Revista De Ciência Elementar, 2013
La vita degli organismi è determinata dal genoma che ognuno di essi possiede. Il genoma è il depositario delle informazioni biologiche indispensabili per l’espletamento di tutte le attività cellulari ed è costituito dall’insieme dei geni funzionali e non funzionali di un organismo.
exaly   +4 more sources

Tissue-specific role of dTrmO in threonine decoding during Drosophila melanogaster development [PDF]

Biological Research
Background Translation is an extremely fine-tuned process. Both speed and fidelity are required to sustain translational demand and protein homeostasis in cells, traits that depend on several elements, including transfer RNA (tRNA) modifications ...
Deborah Cuper, Valentina Muñoz-Madrid, Rodolfo Moreno, Francisca Brown, Yueh-Lin Tsai, Álvaro Glavic   +5 more
doaj   +2 more sources

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants [PDF]

Biomedicines
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity.
Raffaella Cascella, Jacopo Sebastiani, Claudia Strafella, Giulia Calvino, Sarah Andreucci, Michele D’ambrosio, Stefania Zampatti, Jung Hee Levialdi Ghiron, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina   +10 more
doaj   +2 more sources

Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes [PDF]

BMC Medical Genomics
Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as NAFLD (non-alcoholic fatty liver disease), is a growing global concern, affecting nearly a third of the world’s population.
Fernanda G. Arriaga-González, Felipe de Jesús Castañeda-Córdova, Mauricio Díaz-Muñoz, Matthew Hoare, David J. Adams, Carla Daniela Robles-Espinoza, Christian Molina-Aguilar   +6 more
doaj   +2 more sources

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model

Life, 2021
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since ...
Anil Biricik, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco   +10 more
doaj   +1 more source

Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Case Reports in Ophthalmology, 2023
Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is
Andrea Cusumano, Benedetto Falsini, Michele D'Ambrosio, Fabian D'Apolito, Jacopo Sebastiani, Jung Hee Levialdi Ghiron, Emiliano Giardina, Raffaella Cascella   +7 more
doaj   +1 more source

Transparencia pública, genoma y datos genéticos

Revista Española de la Transparencia, 2023
Las actuaciones sobre el genoma, la información y los datos genéticos presentan riesgos para los derechos fundamentales, incluido el derecho a la protección de datos personales, y para la dignidad y libertad humana.
Jesús Jiménez López
doaj   +3 more sources

Utilidad del gen SLCO1B1 como marcador de interés en la farmacogenómica de las estatinas

Revista Colombiana de Cardiología, 2019
Resumen: Las enfermedades cardiovasculares son la principal causa de muerte en el mundo. Fármacos hipolipemiantes como las estatinas son la primera alternativa en la prevención primaria de eventos cardiovasculares, ictus cerebrales y procedimientos de ...
Melissa Robledo, Isaura Torres, Rubén D. Manrique, Mauricio Duque, Juan E. Gallo   +4 more
doaj   +1 more source