Results 61 to 70 of about 1,459,190 (233)

Wolfram syndrome: A case report

Chronic Diseases Journal, 2014
Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease.
Alireza Eskandarifar, Banafsheh Sedaghat, Somayeh Janany, Mozhgan Hosseiny, Alireza Gharib   +4 more
doaj   +1 more source

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. [PDF]

PLoS Genetics, 2008
Mutations in optic atrophy 1 (OPA1), a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA).
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Carrie B Brachmann, Douglas C Wallace, Taosheng Huang   +8 more
doaj   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant

Stem Cell Research
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment.
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Elisa Maria Turco, Martina Mazzoni, Barbara Torres, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Alessandro De Luca, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Diana Rosati   +15 more
doaj   +1 more source

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1996
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
R M, Chalmers, A C, Bird, A E, Harding
openaire   +2 more sources

Ultrafast Micrometric Laser Structuring of Polymer Surfaces for Highly Organized Skeletal Muscle Tissue Modeling

Advanced Science, EarlyView.
Standard cell culture supports were functionalized by laser‐structuring to generate advanced topographies tailored to skeletal muscle tissue. The physicochemical modifications of the polymeric surfaces and their interactions with cells were thoroughly investigated, confirming both safety and effectiveness in guiding muscle cell organization.
Lucas Duvert, Lorena Garcia‐Castillo, Clarissa Murru, Adrien Casanova, Daniel Ferry, Pierre Perrin, Solene Coste, Anne Bigot, Anne‐Patricia Alloncle, Frederique Magdinier, Stefano Testa   +10 more
wiley   +1 more source

Multiple Sclerosis–Like Disorder in Opa1-Related Autosomal Dominant Optic Atrophy [PDF]

, 2008
Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophhy 1 (IPA1) gene, a nuclear gene encoding a mitochondrial protein.
D. Loiseau, Dubas, Frédéric, Amati-Bonneau, Patrizia, Verny, Christophe, P. Lejeune, F. Dubas, D. Bonneau, C. Verny, Loiseau, Dominique, A. Chevrollier, Bonneau, Dominique, C. Scherer, P. Reynier, Lejeune, P., P. Amati-Bonneau, Reynier, Pascal, V. Guillet, Gueguen, Naïg, N. Gueguen, Scherer, Clarisse, Guillet, Virginie, Chevrollier, Arnaud   +21 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy

, 2022
Autosomal dominant optic atrophy (DOA) is the commonest inherited optic neuropathy, yet there is limited natural history data on disease progression.
Joshua Harvey; Eun Hee Hong; Gerard Smits; Neringa Jerkute; Gavin Arno; Victoria Nesbitt; Marcela Votruba; Patrick Yu-Wai-Man, Joshua Harvey, MA, BM, BCh, FRCOphth   +1 more
core  

A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy.

Genetics in Medicine
PURPOSE Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a
Katharina Valentin, Monika Kustermann, M. Schneider, Haleh Aminfar, K. Vollnhofer, Andreas Wedrich, Christoph Stapf, Martin Bertich, Markus Ritter, Theresa Mendrina, Daniel Valcanover, Walter Berger, Margret Eckhard, Andy Sombke, S. Lilja, A. Paquay, B. Rosensteiner, I. Schmidt, Reginald E. Bittner, T. Georgi, Berthold Pemp, Wolfgang M. Schmidt   +21 more
semanticscholar   +1 more source