Zobrazeno 1 - 10
of 829
pro vyhledávání: '"inherited retinal disease"'
Autor:
Christina Kiel, Fabiola Biasella, Heidi Stöhr, Philipp Rating, Georg Spital, Ulrich Kellner, Karsten Hufendiek, Cord Huchzermeyer, Herbert Jaegle, Klaus Ruether, Bernhard H. F. Weber
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in
Externí odkaz:
https://doaj.org/article/cf2e680a1c40414cb651066b9891dc27
Autor:
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disord
Externí odkaz:
https://doaj.org/article/0860ff5ddc024d86ada8fe8cf5af697c
Autor:
Hualei Hu, Fei Liu, Pan Gao, Yuwen Huang, Danna Jia, Jamas Reilly, Xiang Chen, Yunqiao Han, Kui Sun, Jiong Luo, Pei Li, Zuxiao Zhang, Qing Wang, Qunwei Lu, Daji Luo, Xinhua Shu, Zhaohui Tang, Mugen Liu, Xiang Ren
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionInherited retinal diseases (IRDs) affect ∼4.5 million people worldwide. Elusive pathogenic variants in over 280 genes are associated with one or more clinical forms of IRDs. It is necessary to understand the complex interaction among re
Externí odkaz:
https://doaj.org/article/f5ed54188b194288bb2e9b4c7b5afde4
Autor:
Sena Ayse Gocuk, Xavier Hadoux, Charmaine Catipon, Elise Cichello, Himeesh Kumar, Jasleen Kaur Jolly, Peter van Wijngaarden, Thomas Llewelyn Edwards, Lauren Nicole Ayton, David Cordeiro Sousa
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeFemale carriers of X-linked inherited retinal diseases (IRDs) can show highly variable phenotypes and disease progression. Vascular reactivity, a potential disease biomarker, has not been investigated in female IRD carriers. In this study, fun
Externí odkaz:
https://doaj.org/article/7f017655f745490aa303a7d3c620a3f3
Autor:
Saira Khanna, Bradley T. Smith
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102064- (2024)
Purpose: To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes. Observations: Neovascular glaucoma is not a comm
Externí odkaz:
https://doaj.org/article/3c04e6cc1cd94f74a9ba63c1266f4612
Autor:
Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang, Gerald Choon Huat Koh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of data can lead to underfu
Externí odkaz:
https://doaj.org/article/f7060b08166e40d38ba812f5750aa5ed
Autor:
Collin J. Richards, Jose S. Pulido
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 10018-10025 (2023)
Inherited retinal diseases (IRDs) are a significant contributor to visual loss in children and young adults, falling second only to diabetic retinopathy. Understanding the pathogenic mechanisms of IRDs remains paramount. Some autosomal genes exhibit
Externí odkaz:
https://doaj.org/article/a191a64ee68e49daa92c9e6c8fb0fe8e
Autor:
Sven Vilain
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/40aef4a16c4c433280243648a5f1ea1a
Autor:
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102113- (2024)
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification. Typically, minigene assays in
Externí odkaz:
https://doaj.org/article/2432239a36154de1b9786f11e2c564fc
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
The retina is part of the central nervous system specialized for vision. Inherited retinal diseases (IRD) are a group of clinically and genetically heterogenous disorders that lead to progressive vision impairment or blindness. Although each disorder
Externí odkaz:
https://doaj.org/article/5d5d3a6aadd54565a9c677c615607c14