Results 111 to 120 of about 12,927 (274)

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Terapía génica en enfermedades oculares [PDF]

, 2018
Universidad de Sevilla.
Marín Robayo, Mónica
core  

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. [PDF]

, 2016
Retinal degeneration (RD) in the Miniature Long Haired Dachshund (MLHD) is a cone-rod dystrophy resulting in eventual blindness in affected individuals.
Boursnell, Mike, Forman, Oliver P, Hitti, Rebekkah J, Mellersh, Cathryn, Miyadera, Keiko, Sargan, David   +5 more
core   +2 more sources

Nanocarrier‐Based Systems for Targeted Delivery: Current Challenges and Future Directions

MedComm, Volume 6, Issue 9, September 2025.
Recent advances in nanocarrier‐mediated delivery for nuclear targeting Cell nucleus: key target for improved therapeutic outcomes including chemotherapy, photodynamic therapy, and gene therapy Nuclear‐targeted drug delivery strategy: including nuclear localization sequence (NLS)‐mediated active targeting and passive strategies • Challenges in nuclear ...
Zichen Xu, Yongyi Xie, Wenjie Chen, Wei Deng   +3 more
wiley   +1 more source

Current Concepts in the Treatment of Retinitis Pigmentosa

Journal of Ophthalmology, 2011
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population.
Maria A. Musarella, Ian M. MacDonald
doaj   +1 more source

SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

eLife, 2020
Leber congenital amaurosis type nine is an autosomal recessive retinopathy caused by mutations of the NAD+ synthesis enzyme NMNAT1. Despite the ubiquitous expression of NMNAT1, patients do not manifest pathologies other than retinal degeneration. Here we
Yo Sasaki, Hiroki Kakita, Shunsuke Kubota, Abdoulaye Sene, Tae Jun Lee, Norimitsu Ban, Zhenyu Dong, Joseph B Lin, Sanford L Boye, Aaron DiAntonio, Shannon E Boye, Rajendra S Apte, Jeffrey Milbrandt   +12 more
doaj   +1 more source

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups [PDF]

, 2016
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but ...
Carr, A-JF, Cheetham, ME, Coffey, PJ, da Cruz, L, Gallo, J-M, Hardcastle, AJ, Hull, S, Jovanovic, K, Kanuga, N, Lane, A, Moore, AT, Munro, PM, Muthiah, MN, Parfitt, DA, Ramsden, CM, Schwarz, N   +15 more
core  

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy

Ophthalmic Genetics, 2019
Background: Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD), are primary causes of inherited childhood blindness. Both are autosomal recessive diseases, with mutations in more than 25 genes explaining approximately ~70% of cases.
W. B. Glen, M. W. Peterseim, Ramsés Badilla, Iya Y Znoyko, Andre X Bourg, R. Wilson, Gary Hardiman, Gary Hardiman, D. Wolff, Joaquin Martinez   +9 more
semanticscholar   +1 more source