Results 61 to 70 of about 1,408,479 (244)

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

BMC Medical Genomics
Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion ...
Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang   +8 more
doaj   +1 more source

A Review of Mitochondrial Optic Neuropathies: From Inherited to Acquired Forms

Journal of Optometry, 2017
In recent years, the term mitochondrial optic neuropathy (MON) has increasingly been used within the literature to describe a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells (RGCs). Interestingly, MONs include
Yasmine L. Pilz, Sherry J. Bass, Jerome Sherman   +2 more
doaj   +1 more source

Adaptive Foam 3D Printing of Ultralight and Multifunctional Materials

Advanced Engineering Materials, EarlyView.
Adaptive foam 3D printing, enabled by expandable microspheres, imparts cellular structures to thermoplastic and thermosetting polymers, manufactured through a variety of processes including fused filament fabrication, direct ink writing, digital light processing, and inkjet printing.
Nariman Rajabifar, Amir Ameli
wiley   +1 more source

Walsh & Hoyt: Dominant Optic Atrophy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no. 165500, gene symbol OPA1) (359), is believed to be the most common of the hereditary optic neuropathies. The estimated disease prevalence is 150,000, or as high as 110,000 in Denmark (360,361)
Nancy J. Newman, MD
core   +1 more source

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Orphanet Journal of Rare Diseases, 2017
Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations.
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi   +21 more
doaj   +1 more source

Discrepancies Between Micro Versus Macroscale Viscoelastic Properties in a Microplastic‐Tissue Composite Model

Advanced Engineering Materials, EarlyView.
This study explores the discrepancies between bulk mechanics and spatial mapping in a tissue‐mimetic hydrogel model. Microplastic particles create localized stiff mechanical microenvironments that are detectable by cellular‐scale nanoindentation but leave bulk properties unchanged as measured by rheology.
Ahron T. Verschleisser, Baptiste Le Roi, Omri Leshem, Joshua M. Grolman   +3 more
wiley   +1 more source

Neuro-Ophthalmological Characterization of Not-OPA1 Dominant Optic Atrophy

, 2022
Heterozygous mutations in AFG3L2 gene (encoding a protease indirectly involved in OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of Dominant Optic Atrophy (DOA).
Giulia Amore; Martina Romagnoli; Michele Carbonelli; Leonardo Caporali; Claudio Fiorini; Flavia Palombo; Piero Barboni; Valerio Carelli; Chiara La Morgia
core  

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

BMC Medical Genetics, 2011
Background Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases ...
Larsen Michael, Milea Dan, Grønskov Karen, Almind Gitte J, Brøndum-Nielsen Karen, Ek Jakob   +5 more
doaj   +1 more source

Influence of TiC and TiN Ceramic Reinforcements on the Microstructure, Thermal Expansion Behavior, and Tensile Properties of Invar 36 Manufactured by Laser Powder Bed Fusion

Advanced Engineering Materials, EarlyView.
This study examines Invar composites reinforced with titanium carbide (TiC) and titanium nitride (TiN) using laser powder bed fusion (LPBF). It presents the influence of reinforcements on microstructure, tensile properties, and thermal expansion. Results show that TiC effectively strengthens Invar while maintaining low thermal expansion, whereas TiN ...
Ayodeji Nathaniel Oyedeji, Natasha Sacks, Johannes Pötschke, Björn Matthey   +3 more
wiley   +1 more source

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

BMC Medical Genetics, 2009
Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies.
Amati-Bonneau Patrizia, Thoraval Didier, Murail Pascal, Chevrollier Arnaud, Rocher Christophe, Ferré Marc, Pierron Denis, Reynier Pascal, Letellier Thierry   +8 more
doaj   +1 more source