Results 71 to 80 of about 370,744 (189)

Protein Glutamylation: From Cytoskeleton to Signaling

Med Research, EarlyView.
Tubulin glutamylation, γ‐glutamylation, and nontubulin glutamylation are distinct yet interconnected post‐translational modifications that regulate diverse physiological and pathological processes, including cytoskeletal organization, cell cycle progression, immunity, metabolism, and disease development.
Jiayuan Chen, Yi Yuan, Qingquan Yu, Xinyue Wang, Hui Wang   +4 more
wiley   +1 more source

Inherited retinal dystrophies. Studies on the clinical and genetic characteristics [PDF]

, 2015
Contains fulltext : 147477.pdf (Publisher’s version ) (Open Access)Defects in over 150 genes can lead to an inherited retinal dystrophy.
Huet, R.A.C. van
core   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Early Visual Symptom Patterns in Inherited Retinal Dystrophies

, 2011
The present retrospective study compared initial visual symptom patterns in inherited retinal dystrophies (IRD) on the basis of records of 544 patients diagnosed with a wide variety of IRD at the Tuebingen University Eye Hospital from 2005 to 2008.
Eric Troeger, Elena Prokofyeva, Robert Wilke, Eberhart Zrenner   +3 more
core   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 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

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

, 2019
Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid.
Ong, Singh, Patel
core   +1 more source

Fundus autofluorescence imaging of retinal dystrophies. [PDF]

, 2008
Contains fulltext : 70199theelen.pdf (Publisher’s version ) (Open Access)Fundus autofluorescence (FAF) is a non-invasive imaging technique that enables the visualization of lipofuscin changes in the retinal pigment epithelium.
Klevering, B.J., B. Jeroen Klevering, Keunen, Jan E.E., Theelen, Thomas, Thomas Theelen, Boon, C.J.F., Keunen, J.E.E., Hoyng, C.B., Boon, Camiel J.F., Camiel J.F. Boon, Hoyng, Carel B., Jeroen Klevering, B., Theelen, T., Jan E.E. Keunen, Carel B. Hoyng   +14 more
core   +2 more sources

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization

, 2023
Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies.
Mario R. Romano, Fabiana D’Esposito, Tania Sorrentino, Davide Allegrini, Panos Tsoutsanis, Elisa Stradiotto, Ciro Costagliola, Francesco Paolo De Rosa, Gianmaria Barone, Raffaele Raimondi, Angelica Rizzato   +10 more
core   +1 more source