Results 51 to 60 of about 12,927 (274)

Genetic testing for Leber congenital amaurosis

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA).
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

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

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

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1 [PDF]

, 2015
Leber congenital amaurosis (LCA) is a severe autosomal-recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus.
Baert, Annelot, Bauwens, Miriam, Coppieters, Frauke, De Baere, Elfride, De Bruyne, Marieke, Fujimaki, Takuro, Kondo, Mineo, Leroy, Bart, Meire, Françoise, Murakami, Akira, Ongenaert, Maté, Todeschini, Anne Laure, Van Cauwenbergh, Caroline, Veitia, Reiner A, Verdin, Hannah   +14 more
core   +3 more sources

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

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies [PDF]

, 2018
PURPOSE: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and ...
Davies, WIL, Kumaran, N, Liasis, AC, Michaelides, M, Moore, AT, Moradi, P, Robson, AG, Sheck, L, Webster, AR   +8 more
core   +2 more sources

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance. [PDF]

Commun Biol
Suga A, Minegishi Y, Yamamoto M, Ueda K, Iwata T.   +4 more
europepmc   +3 more sources

CrxRdy cat: A large animal model for CRX-associated Leber congenital amaurosis [PDF]

, 2016
PURPOSE: Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously.
Chen, Shiming, Narfstrom, Kristina, Occelli, Laurence M, Peteresen-Jones, Simon M, Tran, Nicholas M   +4 more
core   +3 more sources