Results 81 to 90 of about 9,513 (213)

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines

Human Mutation, Volume 2026, Issue 1, 2026.
Purpose The 2015 guidelines recommend using a large, diverse, and race‐matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene‐specific interpretations of ACMG/AMP guidelines, including population information.
Xiaoyan Wang, Tongmei Zhang, Yayun Qin, Yongyi Zou, Haiyan Luo, Haibo Li, Jieping Song, Priya Gusain   +7 more
wiley   +1 more source

Assessment of In‐Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning

Human Mutation, Volume 2026, Issue 1, 2026.
The standard for in silico pathogenicity prediction of in‐frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM‐
David E. Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C. Brock, Yumei Li, Molly Marra, Mark E. Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen, Feng Gu   +14 more
wiley   +1 more source

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.

PLoS Medicine, 2006
BackgroundRPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins.
Alexis-Pierre Bemelmans, Corinne Kostic, Sylvain V Crippa, William W Hauswirth, Janis Lem, Francis L Munier, Mathias W Seeliger, Andreas Wenzel, Yvan Arsenijevic   +8 more
doaj   +1 more source

Mechanistically distinct mouse models for CRX-associated retinopathy [PDF]

, 2014
Cone-rod homeobox (CRX) protein is a "paired-like" homeodomain transcription factor that is essential for regulating rod and cone photoreceptor transcription. Mutations in human CRX are associated with the dominant retinopathies Retinitis Pigmentosa (RP),
Chen, Shiming, Hennig, Anne K, Huecker, Julie B, Tran, Nicholas M, Zhang, Alan, Zhang, Xiaodong   +5 more
core   +4 more sources

HiFi Long‐Read Whole‐Genome Sequencing Deciphers Large Afghan RD3 Founder Deletion Causing Leber Congenital Amaurosis

Human Mutation, Volume 2026, Issue 1, 2026.
Leber congenital amaurosis (LCA) is caused by mutations in at least 30 genes. Biallelic RD3 loss‐of‐function variants underlie rare LCA12. By whole‐exome sequencing (WES), we identified three apparently unrelated LCA12 patients (P1–3) from Afghanistan.
Monika Gawai, Ariane Kröll-Hermi, Milan Hiersche, Christian Decker, Johannes Birtel, Denise Yang-Seeger, Anna M. Lentzsch, Christoph Friedburg, Markus N. Preising, Christian Betz, Hanno J. Bolz, Stuart Scott   +11 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

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. [PDF]

, 2013
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they are readily identified before the onset of retinal degeneration, making gene therapy a viable strategy to prevent their blindness.
Boye, S, Boye, SE, Chiodo, V, Dyka, F, Fofo, H, Hauswirth, WW, Lopes, VS, Louie, CM, Williams, DS   +8 more
core   +1 more source

CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line

Stem Cell Research
Mutations in the Crumbs homolog 2 (CRB2) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease.
Lei Zhang, Fengfeng Zhang, Mingze Yao
doaj   +1 more source

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source