Results 61 to 70 of about 9,513 (213)

Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives

Medical Review, 2022
Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations.
Huang Chao, Li Qing, Li Jinsong
doaj   +1 more source

Thailand's Emerging Role in the Cell and Gene Therapy Revolution: A Review of Progress and Potential

Clinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT This Perspective examines Thailand's role in cell and gene therapy, focusing on regulatory development and early clinical experience. These therapies are used in Thailand for β‐thalassemia, or blood cancer, together with the evolving ATMP regulatory framework and the ATMP Sandbox Project.
Vip Viprakasit, Warut Tulalamba, Thidarat Suksangpleng, Supachai Ekwattanakit   +3 more
wiley   +1 more source

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Molecular Vision, 2019
Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was ...
Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen   +9 more
doaj  

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

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

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 more
wiley   +1 more source

Terapía génica en enfermedades oculares [PDF]

, 2018
Universidad de Sevilla.
Marín Robayo, Mónica
core  

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
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