Results 11 to 20 of about 7,465 (249)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). [PDF]

Orphanet J Rare Dis, 2020
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR.   +3 more
europepmc   +4 more sources

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).
Bertelli, Matteo, Falsini, Benedetto, Andi Abeshi, Tommaso Beccari, Coppola, Pamela, Benedetto Falsini, Munis Dundar, Abeshi, Andi, Pamela Coppola, DÜNDAR, MUNİS, Beccari, Tommaso, Matteo Bertelli   +11 more
core   +2 more sources

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

BioMedical Engineering OnLine, 2012
Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Jean Bennett, Francesca Simonelli, Simonelli Francesca, BENNETT J, Testa, Francesco, Francesco Testa, Paolo Melillo, Leandro Pecchia, Rossi, Settimio, Pecchia Leandro, Testa Francesco, Bennett, Jean, M.D., Pecchia, Leandro, PECCHIA L, Melillo, Paolo, Settimio Rossi, Simonelli, Francesca, Bennett Jean, Rossi Settimio   +19 more
core   +3 more sources

Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis [PDF]

Stem Cell Research, 2020
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells ...
한진우
core   +3 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
core   +2 more sources

Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation. [PDF]

Clin Ophthalmol
Owliaee I, Teimoori A, Shoushtari M, Shojaeian A.   +3 more
europepmc   +3 more sources

CRB1 gene variant in leber congenital amaurosis: molecular and clinical investigations [PDF]

Egyptian Journal of Medical Human Genetics
Introduction In Iran, due to widespread consanguineous marriages, the emergence of genetic variants is a likely issue. This study aimed to describe an Iranian female patient with a novel variant in the Crumbs homologue 1 (CRB1) associated with Leber ...
Almuthana K. Hameed, Ahmed M. Amshawee, Sahar Kareem Al-Mozani, Mostafa Neissi, Javad Mohammadi-Asl, Kamele Jorfi, Doaa Haqi Ismael, Elaheh Nekouei   +7 more
openalex   +2 more sources

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis. [PDF]

J Ophthalmic Vis Res, 2023
Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5.
Berger S, D Currie P, Berger J.
europepmc   +2 more sources

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 N. Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +5 more
openalex   +3 more sources

Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis [PDF]

Molecular Therapy, 2021
Gustavo D Aguirre, Artur V Cideciyan, Valerie L Dufour   +2 more
exaly   +2 more sources