Results 91 to 100 of about 9,124 (223)

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Management of inherited outer retinal dystrophies: present and future [PDF]

British Journal of Ophthalmology, 1999
The inherited outer retinal dystrophies comprise a large number of disorders characterised by a slow and progressive retinal degeneration. They have been arbitrarily divided into macular dystrophies, retinitis pigmentosa (RP), and cone/rod dystrophies on the basis of their phenotype.
N H, Chong, A C, Bird
openaire   +2 more sources

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

Identifying mutations in Tunisian families with retinal dystrophy. [PDF]

, 2016
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed.
Allaman-Pillet, N., Chebil, A., El Matri, L., Falfoul, Y., Habibi, I., Kort, F., Schorderet, D.F.   +6 more
core   +3 more sources

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa [PDF]

, 2016
Retinitis pigmentosa (RP), the most frequent form of inherited retinal dystrophy is characterized by progressive photoreceptor degeneration. Many genes have been implicated in RP development, but several others remain to be identified.
A Avila-Fernandez, A Avila-Fernandez, A McKenna, A Nishida, A Siepel, AI den Hollander, AJ Peterson, C Ayuso, C Ayuso, CL Freund, D Stapleton, DA Bessant, DF Schorderet, DT Hartong, E Mathe, EC Oh, F Qiao, F Qiao, F Qiao, FO Desmet, G Jin, GH Peng, GR Abecasis, H Li, H Zhang, I Barragan, I Medina, I Medina, IA Adzhubei, J Hlawatsch, J Schultz, J Yan, J Zhang, JA Tennessen, JC Corbo, KM Nishiguchi, M Corton, MA DePristo, MB Consugar, MH Farkas, MI Khan, MM Sohocki, NH Chapman, NJ Mollema, P Fernandez-San Jose, P Kumar, P Minguez, P Tummala, R Alonso, R Perez-Carro, RK Ozgul, S Roosing, SP Daiger, ST Sherry, T Eisenberger, T Furukawa, T Inoue, T Joensuu, T Langmann, T Langmann, T Marquardt, Y Choi, Y Omori, ZC Lai   +63 more
core   +2 more sources

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

Reconstruction of deep and perforating corneal defects in dogs—A review (Part II/III): Biomaterials and keratoprosthesis

Veterinary Ophthalmology, Volume 28, Issue 2, Page 532-542, March 2025.
Abstract The surgical reconstruction of severe corneal ulcers is a common and crucial component of the clinical practice of veterinary ophthalmology. Numerous surgical techniques are used in dogs for corneal reconstruction, and these techniques may be categorized by the material used to repair the corneal lesion.
Eric C. Ledbetter, Rick F. Sanchez, Marta Leiva Repiso   +2 more
wiley   +1 more source

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population

BMC Medical Genomics
Background Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far.
Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado   +6 more
doaj   +1 more source

From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks

Biomedicines
Background: Retinal and optic nerve disorders are a leading cause of irreversible visual impairment worldwide. Advances in molecular genetics—including next-generation sequencing, genome-wide association studies, and gene-based therapeutic technologies ...
Feliciana Menna, Corrado Pinelli, Laura De Luca, Alessandro Meduri, Antonio Baldascino, Stefano Lupo, Enzo Maria Vingolo   +6 more
doaj   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source