Results 11 to 20 of about 1,000 (152)
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation. [PDF]
Clin Genet, 2022 Abstract Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and
Vela-Sebastián A +12 more
europepmc +2 more sources
Molecular Genetics &Genomic Medicine, Volume 10, Issue 1, January 2022., 2022 Some mutations cause high levels of cryptic exon inclusion in transcripts of the mutated gene, disrupting their coding sequence and resulting in a disease phenotype. Through similar mechanisms, common polymorphisms (SNPs) can cause sub‐clinical variations in cryptic exon splicing, which may be detectable as SNP‐linked population phenotypes.
Niall Patrick Keegan, Sue Fletcher
wiley +1 more source
Loss of MUNC18‐1 leads to retrograde transport defects in neurons
Journal of Neurochemistry, Volume 157, Issue 3, Page 450-466, May 2021., 2021 Loss of MUNC18‐1 or the t‐SNAREs SNAP25 and syntaxin‐1 leads to massive, yet unexplained, neurodegeneration. Previous research showed that Golgi abnormalities are the earliest, common phenotype. In this issue, Van Berkel et al. provide an explanation for the mechanism underlying the Golgi abnormalities upon loss of MUNC18‐1. By systematically assessing
Annemiek A. van Berkel +5 more
wiley +1 more source
First report of Tomato brown rugose fruit virus in greenhouse tomato in Iran
, 2021 New Disease Reports, Volume 44, Issue 2, October–December 2021.
A. Ghorbani +3 more
wiley +1 more source
Mary Tudor – From the Page to the Screen
VIEW Journal of European Television History and Culture, 2021 This article explores representations of Mary I of England, wife of Philip II of Spain. Specifically, it examines the portrayal of the queen – perhaps most famously known by the epithet ‘Bloody Mary’ – in the TV series Carlos, Rey Emperador (2015-2016 ...
Elizabeth Evenden-Kenyon
doaj +1 more source
Byzantium and the First Crusade: Three Avenues of Approach
Estudios Bizantinos, 2023 Un tema recurrente en la historiografía de la Primera Cruzada es el del emperador bizantino pidiendo al papa Urbano que envíe un pequeño contingente contra los turcos y recibiendo a cambio vastos ejércitos sobre los que no tenía control alguno.
Jonathan Harris
doaj
Revista Internacional de Sociología, 2009 La acción reivindicativa de los diplomados en paro de Marruecos plantea, desde hace 15 años, un reto a las principales conclusiones de los trabajos sobre acción colectiva de desempleados.
Montserrat Emperador Badimon
doaj +1 more source
Investigation of the Effects of Marble Material Properties on the Surface Quality
Advances in Materials Science and Engineering, Volume 2018, Issue 1, 2018., 2018 This study aims to investigate the effects of material properties of marble on surface roughness and glossiness. For this purpose, four types of limestones were investigated. Physicomechanical properties of samples were determined through laboratory measurements.
Sümeyra Cevheroğlu Çıra +3 more
wiley +1 more source
El emperador, el papado y Trento
Escuela Abierta, 2019 El trabajo comienza analizando el largo camino recorrido por la Iglesia hasta la convocatoria del concilio de Trento, subrayando el papel que en este acontecimiento eclesial y político jugaron los papas y Carlos V.
Manuel Martín Riego
doaj +2 more sources
Advances in Materials Science and Engineering, Volume 2016, Issue 1, 2016., 2016 Factors affecting the final surface quality of polished marble are not yet fully understood. Clarifying these factors for optimization of multivariate polishing process by trial and error method is difficult, time‐consuming, and costly task. In this study, the empirical practices were carried out using an experimental design, specifically, a central ...
Sümeyra Cevheroğlu Çıra +3 more
wiley +1 more source