Results 41 to 50 of about 15,997 (234)

Decellularised extracellular matrix-derived peptides from neural retina and retinal pigment epithelium enhance the expression of synaptic markers and light responsiveness of human pluripotent stem cell derived retinal organoids [PDF]

, 2019
Tissue specific extracellular matrices (ECM) provide structural support and enable access to molecular signals and metabolites, which are essential for directing stem cell renewal and differentiation.
Al-Aama, Jumana, Asfour, Hani Z., Ding, Yuchun, Doherty, Mary, Dorgau, Birthe, Felemban, Majed, Hallam, Dean, Hilgen, Gerrit, Hunt, Nicola Claire, Kiening, Martin, Krasnogor, Natalio, Lako, Majlinda, Sernagor, Evelyne, White, Kathryn, Whitfield, Phil, Zerti, Darin   +15 more
core   +2 more sources

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies

Frontiers in Neuroscience, 2020
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are inherited degenerative retinal dystrophies with vision loss that ultimately lead to blindness.
Nanda Boon, Jan Wijnholds, Jan Wijnholds, Lucie P. Pellissier   +3 more
doaj   +1 more source

Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders

EMBO Molecular Medicine, 2021
Gene therapy using recombinant adeno‐associated virus (rAAV) vectors to treat blinding retinal dystrophies has become clinical reality. Therapeutically impactful targeting of photoreceptors still relies on subretinal vector delivery, which detaches the ...
Marina Pavlou, Christian Schön, Laurence M Occelli, Axel Rossi, Nadja Meumann, Ryan F Boyd, Joshua T Bartoe, Jakob Siedlecki, Maximilian J Gerhardt, Sabrina Babutzka, Jacqueline Bogedein, Johanna E Wagner, Siegfried G Priglinger, Martin Biel, Simon M Petersen‐Jones, Hildegard Büning, Stylianos Michalakis   +16 more
doaj   +1 more source

Study of Frequency and Nosology of Clinical Varieties of Retinal Dystrophies in Children and Adolescents

Oftalʹmologiâ, 2023
Background. Particular vigilance in timely detection of retinal dystrophies (RD) in children is necessary as effective measure to prevent formation of rhegmatogenous retinal detachment. Purpose. To study frequency and structure of clinical forms of RD in
O. V. Kolenko, E. L. Sorokin, A. V. Sergeeva   +2 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene

Stem Cell Research, 2021
Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A.
Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J. Diaz-Corrales, Berta de la Cerda   +5 more
doaj   +1 more source

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source