Results 71 to 80 of about 264,225 (169)

Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.

, 2011
PURPOSE. To characterize anatomically and functionally the retinal degeneration observed in a transgenic mouse line (OPN1LW-EGFP) expressing enhanced green fluorescent protein (EGFP) in a subpopulation of cone photoreceptors, and to map the location of ...
Charbel Issa, P, Singh, M.S., Yusuf, M., Volpi, Emanuela, Maclaren, Robert, Lee, E, Davies, W.L., Wayne L. Davies, Damant, C., Yusuf, M, Christopher Damant, Edward Lee, MacLaren R.E., Mandeep S. Singh, Lipinski, Daniel Mark, Charbel Issa, P., Robert E. MacLaren, Mohammed Yusuf, Barnard, AR, Barnard, A.R., Daniel M. Lipinski, Lipinski, DM, Barnard, Alun, Damant, C, MacLaren, Robert E., Volpi, EV, Davies, WL, Peter Charbel Issa, Maclaren, RE, Emanuela V. Volpi, Lipinski, D.M., Volpi, E.V., Alun R. Barnard, Singh, MS, Lee, E.   +34 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Cone Dystrophy

, 2002
PPT covering Cone Dystrophy - An inherited degeneration that presents between 10 - 30 years of age.
Kathleen B. Digre, MD
core  

Central Cone Dystrophy Occult Macular Dystrophy

, 2012
Slideshow describing condition of Central Cone Dystrophy Occult Macular ...
Gregory Van Stavern, MD
core  

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

Analysis of macular cone photoreceptors in a case of occult macular dystrophy

Clinical Ophthalmology, 2013
Naoki Tojo Tomoko Nakamura Hironori Ozaki Miyako Oka Toshihiko Oiwake Atsushi HayashiDepartment of Ophthalmology, University of Toyama, Toyama, JapanPurpose: To investigate changes in cone photoreceptors with adaptive optics (AO) fundus imaging and ...
Tojo N, Nakamura T, Ozaki H, Oka M, Oiwake T, Hayashi A   +5 more
doaj  

mTORC1 Activation Links Chronic Stress to Meso‐Circuit Desynchronization and Accelerated Amyloid Pathology via Autophagic Dysfunction

CNS Neuroscience &Therapeutics, Volume 32, Issue 10, October 2026.
Chronic stress is associated with mTORC1 hyperactivation and autophagy‐related abnormalities, accompanied by cortical network desynchronization and accelerated amyloid pathology in a 5xFAD model with depression‐like behaviors. Pharmacological mTORC1 inhibition with EN6 ameliorates these molecular, pathological, and network abnormalities and improves ...
Yang Zou, Jun Yang, Yang Li, Guodong Wang, Wen Lu, Xiaoping Chen, Xingxing Ma, Kehan Chen, Peng Liang, Yinghui Wu, Tao Zhuo   +10 more
wiley   +1 more source

Role of Myotonic Dystrophy Protein Kinase [DMPK] in Glucose Homeostasis and Muscle Insulin Action [PDF]

, 2007
Myotonic dystrophy 1 (DM1) is caused by a CTG expansion in the 3′-unstranslated region of the DMPK gene, which encodes a serine/threonine protein kinase. One of the common clinical features of DM1 patients is insulin resistance, which has been associated
Liesa Marc, Ciaraldi, Theodore P, Martí, Luc, Ciaraldi, Theodore P., Palacin, Manuel, Catalucci, Daniele, Wolfgang H Dillmann, Esther Llagostera, Perla Kaliman, Catalucci Daniele, Camps, Marta, Reddy, Sita, Gomis, Ramon, 1946-, Luc Marti, Llagostera Martín, Esther, Antonio Zorzano, Ciaraldi Theodore P., Dillmann, Wolfgang H, Llagostera Esther, Gomis Ramon, Reddy Sita, Camps Marta, Dillmann, Wolfgang H., Kaliman Perla, Sita Reddy, Kaliman, Perla, Ruiz-Lozano Pilar, Llagostera, Esther, Richard Kondo, Ruiz-Lozano, Pilar, Zorzano Olarte, Antonio, Manuel Palacin, Zorzano Antonio, Kondo, Richard, Palacín Prieto, Manuel, Ramon Gomis, Daniele Catalucci, Liesa Torre-Marín, Montserrat, Dillmann Wolfgang H., Marti Luc, Camps Camprubí, Marta, Zorzano, Antonio, Marta Camps, Pilar Ruiz-Lozano, Liesa, Marc, Kondo Richard, Gomis, Ramon, Marc Liesa, Theodore P Ciaraldi, Palacin Manuel   +49 more
core   +2 more sources

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Italian Journal of Pediatrics, 2019
Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla   +6 more
doaj   +1 more source

Retbindin Dynamically Redistributes to Preserve Retinal Flavin‐Dependent Homeostasis in Response to Riboflavin Availability and Circadian Demand

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
The retina is a part of the central nervous system, has remarkably high energy demands that require efficient retinal metabolism. Dysregulation of retinal metabolism disrupts energy supply and redox balance, leading to the pathogenesis of diverse retinal diseases. Riboflavin and its cofactors, flavin mononucleotide (FMN) and flavin adenine dinucleotide
Xue Zhao, Mustafa S. Makia, Gennadiy P. Moiseyev, Muna I. Naash, Muayyad R. Al‐Ubaidi   +4 more
wiley   +1 more source