Results 91 to 100 of about 12,927 (274)

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Molecular genetics of Leber congenital amaurosis [PDF]

Human Molecular Genetics, 2002
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients.
Cremers, F.P.M., Hurk, J.A.J.M. van den, Hollander, A.I. den   +2 more
openaire   +4 more sources

The Impact of QSP Modeling on the Design and Optimization of Gene Therapy Approaches

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1760-1764, November 2025.
ABSTRACT Quantitative Systems Pharmacology (QSP) is increasingly utilized to support the design and translation of gene therapies. This perspective outlines the application of QSP modeling across three domains of gene therapy: mRNA‐based therapeutics, adeno‐associated virus (AAV) vectors, and genome editing systems.
Noha Rayad, Ekram A. Chowdhury, Guy M. L. Meno‐Tetang   +2 more
wiley   +1 more source

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene

Stem Cell Research
Biallelic variants in RDH12 are associated with early-onset retinal dystrophy and Leber congenital amaurosis. RDH12 plays a role in the phototransduction cascade by converting all-trans retinal into all-trans retinol in the photoreceptor inner segments ...
M. Bouckaert, F. Van Den Broeck, M. Ghazvini, A. Dueñas Rey, H. Lenaerts, A. Dheedene, K. Claes, E. De Baere, B.P. Leroy, J. De Zaeytijd, F. Coppieters   +10 more
doaj   +1 more source

A clinical and molecular characterisation of CRB1-associated maculopathy [PDF]

, 2018
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa.
A Slavotinek, A Vincent, AI Hollander den, AI Hollander den, AI Hollander den, AI Hollander den, AJ Lotery, AJ Lotery, AK Mehalow, Andrew R. Webster, Anthony Robson, Anthony T. Moore, CH Alves, CH Alves, Chris F. Inglehearn, D Michel, DA Parry, DL McCulloch, E Assemat, FL Motta, Gavin Arno, GR Clark, Graham E. Holder, I Gosens, James A. Poulter, JM Ellingford, K Bujakowska, Kamron N. Khan, Keren J. Carss, KJ Carss, LP Pellissier, Lucy F. Raymond, M Ali, M Bach, M Corton, M Ehrenberg, M Pellikka, M Zhao, Maria M. van Genderen, Martin McKibbin, Michel Michaelides, Monica Armengol, N Shah, NA Bulgakova, Naushin Waseem, Omar A. R. Mahroo, P Charbel Issa, R Jaron, R Sanchez-Alcudia, RE Lamont, RH Henderson, S Hull, SH Cho, SH Tsang, SM Pocha, TS Aleman, Y Wolfson   +56 more
core   +3 more sources

Retinal Viral Gene Therapy: Impact of Route of Administration on Serious Adverse Events—A Systematic Review

Clinical &Experimental Ophthalmology, Volume 53, Issue 8, Page 967-985, November 2025.
ABSTRACT Background To explore the prevalence of serious adverse events (SAEs) associated with retinal viral gene therapy and to examine trends influencing SAE occurrences in human gene therapy surgeries and pre‐clinical animal trials. Methods Literature review was performed to identify peer‐reviewed human and animal studies relevant to viral gene ...
Aubrey Berger, Ciera D. Johnson, Alan D. Marmorstein, Brittni A. Scruggs   +3 more
wiley   +1 more source

Gene therapy in ophthalmology

Oman Journal of Ophthalmology, 2009
It has been more than a year since ophthalmologists and scientists under Dr. Robin Ali′s team at the Moorsfield Eye Hospital and the Institute of Ophthalmology, University College London, successfully treated patients with a severely blinding disease ...
Satagopan Uthra, Govindasamy Kumaramanickavel   +1 more
doaj   +1 more source

A Novel Locus for Leber Congenital Amaurosis (LCA4) with Anterior Keratoconus Mapping to Chromosome 17p13 [PDF]

, 2000
5 páginas, 3 figuras, 2 tablas.-- et al.[Purpose]: A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus
Bhattacharya, Shom Shanker, Hameed, Abdul   +1 more
core  

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source