Results 51 to 60 of about 266,209 (210)

Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3

Stem Cell Research
Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using ...
Sudipta Mahato, Savitri Maddileti, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +5 more
doaj   +1 more source

Co‐Designing Medication Safety Interventions for Community Pharmacy: Bringing Together People Living With Visual Impairments and Community Pharmacists Using a Modified Nominal Group Technique Approach

Health Expectations, Volume 29, Issue 5, October 2026.
ABSTRACT Introduction People living with visual impairment (VI), defined as a reduction in visual acuity or visual field that cannot be corrected by spectacles or contact lenses, experience health inequalities and are at increased risk of medication‐related safety incidents.
Isabel Adeyemi, Lisa Riste, Penny Lewis, Adam Pearson, Sumaira Naseem, Rebecca Morris, Darren Ashcroft, Maria Panagioti, Caroline Sanders, Sally Giles   +9 more
wiley   +1 more source

Predominant rod photoreceptor degeneration in Leber congenital amaurosis

, 2005
ophthalmology, AIPL1 gene, immunocyte chemistry, microscopy, photoreceptor, Leber congenital amaurosis, opsin, lectin, recoverin, cone ...
Luthert, P.J., Preising, M.N., Cheetham, M.E., Munro, P.H.G., van der Spuy, J., Bek, T., Heegaard, S.   +6 more
core   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

, 2018
© 2018 American Association for Pediatric Ophthalmology and Strabismus Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child.
Fox, J. E., Bristow, S. L., Sylvia R. Kodsi, Kodsi, S. R., Joyce E. Fox, Sara L. Bristow, Avner Hershlag, Hershlag, A.   +7 more
core   +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  

CRISPR‐Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
CRISPR‐Cas9 and precision editing technologies enable a variant‐mechanism‐driven framework for genetic disease research and therapeutic development. Pathogenic variants are first interpreted according to mutation type, coding or regulatory consequence, tissue context, and disease mechanism.
Zijing Wen, Jianming Su
wiley   +1 more source

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

Hippocampal Subfield Volumetry and Navigation in Congenital Blindness

Hippocampus, Volume 36, Issue 5, September 2026.
ABSTRACT The hippocampus is essential for efficient navigation. Although lack of visual experience from birth induces volumetric and structural modifications to the hippocampus, tactile and auditory navigation remain partially preserved in congenitally blind (CB) individuals.
Daniel‐Robert Chebat, Fabien C. Schneider, Ron Kupers, Maurice Ptito   +3 more
wiley   +1 more source

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

, 2020
Purpose: This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes.
Santiesteban, Carlos E. Mendoza, Huang, Amy M., Tavakoli, Mehdi, Berrocal, Audina M., Mendoza- Santiesteban, Carlos, Cernichiaro-Espinosa, Linda   +5 more
core   +1 more source