Results 21 to 30 of about 25,332 (224)
Surface immobilization of hexa-histidine-tagged adeno-associated viral vectors for localized gene delivery. [PDF]
, 2010 Adeno-associated viral (AAV) vectors, which are undergoing broad exploration in clinical trials, have significant promise for therapeutic gene delivery because of their safety and delivery efficiency.
Bethi, SR +5 more
core +2 more sources
Nature Communications, 2022 Leber congenital amaurosis is caused by mutations in RPE65 and leads to retinal degeneration in children. Here, the authors show that in vivo base editing can prolong the survival of cone photoreceptors and rescue their function in a mouse model of the ...
Elliot H. Choi +15 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 +8 more
core +1 more source
Pediatric Neurology Briefs, 2004 A family with a stereotyped unilateral or bilateral transient visual loss, that recurred many times daily and was associated with childhood epilepsy and familial hemiplegic migraine, is reported from University Hospitals, Geneva, Switzerland.
J Gordon Millichap
doaj +1 more source
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]
, 2006 PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir +6 more
core +1 more source
African Vision and Eye Health, 2015 Amaurosis fugax is a common term fraught with different interpretations. Disparities inunderstanding appear to be related to professional training. A new framework to facilitateinterdisciplinary communication and clinical research is presented.
Paul Varner
doaj +1 more source
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]
, 2018 Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre +68 more
core +3 more sources
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 +14 more
core +3 more sources