Results 21 to 30 of about 266,209 (210)

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

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   +2 more sources

Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis

Non-coding RNA Research, 2019
A recent study published to screen RPE65 in 187 families with Leber Congenital Amaurosis (LCA) by Zilin Zhong in 2019. There are seven novel variants were identified in RPE65, which was associated with LCA, but among only five were missense mutations [(c.
Zainularifeen Abduljaleel
doaj   +1 more source

Human cone photoreceptor transplantation stimulates remodeling and restores function in AIPL1 model of end-stage Leber congenital amaurosis. [PDF]

Stem Cell Reports
Photoreceptor degeneration is a leading cause of untreatable sight loss. Previously, we showed that human pluripotent stem cell-derived cone photoreceptors (hCones) can rescue retinal function in the Rd1 mouse model of rod-cone dystrophy.
Procyk CA, Melati A, Ribeiro J, Liu J, Branch MJ, Delicata JD, Tariq M, Kalarygrou AA, Kapadia J, Khorsani MM, West EL, Smith AJ, Gonzalez-Cordero A, Ali RR, Pearson RA.   +14 more
europepmc   +2 more sources

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

Novel frameshift mutations in CRX associated with Leber congenital amaurosis [PDF]

, 2001
Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment.
Fulton, A. B., Fishman, G. A., Rivolta, C., Dryja, Thaddeus P., Rivolta, Carlo, Fulton, Anne B., Berson, Eliot L., Peck, Naomi E., Peck, N. E., Dryja, T. P., Fishman, Gerald A., Berson, E. L.   +11 more
core   +1 more source

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis [PDF]

, 2003
To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations.; All six exons comprising the open reading frame of
Dryja, Taddeus P., Rivolta, Carlo, Sieving, Paul A., Berson, Eliot L., Ayyagari, Radha   +4 more
core   +2 more sources