Results 31 to 40 of about 7,465 (249)

Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations

Stem Cell Research, 2022
RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD).
Xuan Zou, Shijing Wu, Tian Zhu, Zixi Sun, Xing Wei, Wuyi Li, Ruifang Sui   +6 more
doaj   +1 more source

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

Stem Cell Research, 2022
Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.
Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto   +9 more
doaj   +1 more source

Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA

Molecular Therapy: Nucleic Acids, 2018
Ocular gene therapy with recombinant adeno-associated virus (AAV) has shown vector-mediated gene augmentation to be safe and efficacious in the retina in one set of diseases (retinitis pigmentosa and Leber congenital amaurosis (LCA) caused by RPE65 ...
Scott J. Dooley, Devin S. McDougald, Krishna J. Fisher, Jeanette L. Bennicelli, Lloyd G. Mitchell, Jean Bennett   +5 more
doaj   +1 more source

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Frontiers in Genetics, 2020
Mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy.
Hajrah Sarkar, Adam M. Dubis, Adam M. Dubis, Susan Downes, Mariya Moosajee, Mariya Moosajee, Mariya Moosajee   +6 more
doaj   +1 more source

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants

Stem Cell Research, 2021
Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa ...
Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee   +6 more
doaj   +1 more source

A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration

Cell Reports, 2018
Summary: Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for CEP290-associated diseases is hindered by the 7.4 kb CEP290 coding sequence, which is difficult ...
Suddhasil Mookherjee, Holly Yu Chen, Kevin Isgrig, Wenhan Yu, Suja Hiriyanna, Rivka Levron, Tiansen Li, Peter Colosi, Wade Chien, Anand Swaroop, Zhijian Wu   +10 more
doaj   +1 more source

Bystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis. [PDF]

Mol Ther Methods Clin Dev
Base editors (BEs) have emerged as a powerful tool for gene correction with high activity. However, bystander base editing, a byproduct of BEs, presents challenges for precise editing.
Lee SH, Wu J, Im D, Hwang GH, Jeong YK, Jiang H, Lee SJ, Jo DH, Goddard WA, Kim JH, Bae S.   +10 more
europepmc   +2 more sources

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis

Chinese Medical Journal, 2017
Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16%
Jing Liu, Juan Bu
doaj   +1 more source

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect [PDF]

, 2019
Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein ...
Platenburg, G, Michael E. Cheetham, Zaeytijd, JD, Balikova, Irina, Cideciyan, AV, Alejandro J. Roman, Rodman, DM, Michael R. Schwartz, Samuel G. Jacobson, Wanda L. Pfeifer, Tome, Maria D., Fanny Nerinckx, Maria D. Hochstedler, Irina Balikova, Schwartz, Michael R., Russell, Stephen R., Charng, Jason, Cheetham, ME, Alexander Sumaroka, Garafalo, Alexandra V., Hochstedler, MD, Elliott H. Sohn, Wilma de Wit, Balikova, I, Ian C. Han, Charng, J, Biasutto, P, Tome, MD, David M. Rodman, Arlene V. Drack, Magali Taiel, Peter Adamson, Drack, Arlene V., Garafalo, AV, Ho, AC, Leroy, BP, De Zaeytijd, Julie, Bart P. Leroy, Ho, Allen C., Rodman, David M., Sumaroka, Alexander, Adamson, P, Alexandra V. Garafalo, Nerinckx, Fanny, Cideciyan, Artur V., Patricia Biasutto, Roman, Alejandro J., Roman, AJ, Artur V. Cideciyan, Schwartz, MR, Russell, SR, Adamson, Peter, Maria D. Tome, Caroline Van Cauwenbergh, Nerinckx, F, Wit, Wilma de, Taiel, M, Drack, AV, Biasutto, Patricia, Van Cauwenbergh, C, Pfeifer, Wanda L., Wit, WD, Pfeifer, WL, Cheetham, Michael E., Jason Charng, Sumaroka, A, Jacobson, Samuel G., Gerard Platenburg, Han, IC, Van Cauwenbergh, Caroline, Sohn, EH, Allen C. Ho, Stephen R. Russell, Taiel, Magali, Platenburg, Gerard, Han, Ian C., Jacobson, SG, Hochstedler, Maria D., Leroy, Bart, Sohn, Elliott H., Julie De Zaeytijd   +80 more
core   +1 more source