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Results: 16755
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S F Santos, Ricardo Lehtonen R de Souza, Erika Fernandez-Vizarra, Alexander J Whitworth, Massimo Zeviani
Aug 12, 2020
BACKGROUND: Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known...
NDUFV1 mutations in complex I deficiency
Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J Robinson, Vaneisse Monteiro, Mara Lucia SF Santos, Ricardo Lehtonen R Souza, Cristiane Benincá
Jan 07, 2022
Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI...
Desgarraduras del cuerpo y degolladuras de la voz
B Epps
Aug 24, 2017
El mismo mar de todos los veranos de Esther Tusquets narra la tormentosa relación erótica y emocional de una mujer de la alta burguesía catalana, casada y desencantada, que ejerce de profesora de literatura, con una joven...
Modified MRI Anonymization (De-Facing) for Improved MEG Coregistration.
Ricardo Bruña, Delshad Vaghari, Andrea Greve, Elisa Cooper, Marius O Mada, Richard N Henson
Nov 27, 2022
Localising the sources of MEG/EEG signals often requires a structural MRI to create a head model, while ensuring reproducible scientific results requires sharing data and code. However, sharing structural MRI data often requires...
Biogenesis and Traffic of the Potassium Channel
Natalie de Souza
Jan 01, 0001
Excitability of nerve and muscle cells depends on the number and the types of ion channels expressed at the plasma membrane. This work examines aspects of biogenesis and traffic of the Shaker voltage-gated potassium channel....
Published by: Rockefeller University
Modelling and Coordination of Building design
Marcio Presente de Souza, Beatriz Campos Fialho, Rita Cristina Ferreira, Marcio Minto Fabricio, Ricardo Codinhoto
Jan 31, 2023
The implementation of Building Information Modelling (BIM) in the Architecture, Engineering, Construction and Operations (AECO) industry requires multidisciplinary teams equipped with new technical and managerial skills....
Production of Purpureocillium lilacinum and Pochonia chlamydosporia by Submerged Liquid Fermentation and Bioactivity against Tetranychus urticae and Heterodera glycines through Seed Inoculation.
Daniela Milanez Silva, Victor Hugo Moura de Souza, Rafael de Andrade Moral, Italo Delalibera Júnior, Gabriel Moura Mascarin
May 17, 2022
Pochoniachlamydosporia and Purpureocilliumlilacinum are fungal bioagents used for the sustainable management of plant parasitic nematodes. However, their production through submerged liquid fermentation and their use in seed...
De la philosophie de la religion dans l’oeuvre de Landgrebe
Sylvain Camilleri
Apr 22, 2021
Nombreux sont les premiers disciples de Husserl à s’être intéressés de prèsà la religion. Landgrebe ne fait pas exception à la règle, même si j’entendsmontrer qu’il constitue plutôt un cas à part. Pourquoi donc ? Parce que...
Published by: Memorial University of Newfoundland
De la philosophie de la religion dans l’oeuvre de Landgrebe
Sylvain Camilleri
Apr 22, 2021
Nombreux sont les premiers disciples de Husserl à s’être intéressés de prèsà la religion. Landgrebe ne fait pas exception à la règle, même si j’entendsmontrer qu’il constitue plutôt un cas à part. Pourquoi donc ? Parce que...
Published by: Memorial University of Newfoundland
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Vanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L R Souza, Mara L S F Santos, Cristiane Benincá, Massimo Zeviani
Nov 09, 2020
OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely...
Modelling and Coordination of Building design
Marcio Presente de Souza, Beatriz Campos Fialho, Rita Cristina Ferreira, Marcio Minto Fabricio, Ricardo Codinhoto
Jan 31, 2023
The implementation of Building Information Modelling (BIM) in the Architecture, Engineering, Construction and Operations (AECO) industry requires multidisciplinary teams equipped with new technical and managerial skills....
Production of Purpureocillium lilacinum and Pochonia chlamydosporia by Submerged Liquid Fermentation and Bioactivity against Tetranychus urticae and Heterodera glycines through Seed Inoculation.
Daniela Milanez Silva, Victor Hugo Moura de Souza, Rafael de Andrade Moral, Italo Delalibera Júnior, Gabriel Moura Mascarin
Jun 29, 2022
Pochoniachlamydosporia and Purpureocilliumlilacinum are fungal bioagents used for the sustainable management of plant parasitic nematodes. However, their production through submerged liquid fermentation and their use in seed...
Order reconstruction for nematics on squares and hexagons
We construct an order reconstruction (OR-)type Landau-de Gennes critical point on a square domain of edge length 2λ, motivated by the well order reconstruction solution numerically reported in [S. Kralj and A. Majumdar, Proc....
Intolerancia en Tiempos de Crisis: Hacia una Literatura Transgresora en El sitio de los sitios de Juan Goytisolo
Oscar Ivan Useche
Jan 01, 0001
Este artículo propone entender la novela de Goytisolo como una respuesta cultural a la crisis de los modelos de racionalidad occidental. Se estudian las dinámicas de descomposición social de la globalización y la aparición...
Juan Goytisolo globalization Sarajevo historical memory memoria historica globalizacion State of Siege fiction Modern Literature Spanish and Portuguese Language and Literature
Published by: Ursinus College
R/BHC
BACKGROUND: Although the use of clustering methods has rapidly become one of the standard computational approaches in the literature of microarray gene expression data analysis, little attention has been paid to uncertainty in...
Embryo size regulates the timing and mechanism of pluripotent tissue morphogenesis.
Lorenzo C Orietti, Viviane Souza Rosa, Francesco Antonica, Christos Kyprianou, William Mansfield, Henrique Marques-Souza, Marta N Shahbazi, Magdalena Zernicka-Goetz
Sep 11, 2020
Mammalian embryogenesis is a paradigm of regulative development as mouse embryos show plasticity in the regulation of cell fate, cell number, and tissue morphogenesis. However, the mechanisms behind embryo plasticity remain...
Apoptosis Embryo Embryonic Stem Cells epithelial tissue Implantation lumenogenesis Morphogenesis Mouse embryogenesis regulative development size regulation Amnion Animals Apoptosis Cell Aggregation Embryo Mammalian Embryonic Stem Cells Female Mice Inbred C57BL Mice Inbred CBA Morphogenesis Organ Size Time Factors
Organic Contaminant-Triggered Self-Healing Soil Mix Cut-Off Wall Materials Incorporating Oil Sorbents
Soil mix cut-off walls have been increasingly used for containment of organic contaminants in polluted land. However, the mixed soil is susceptible to deterioration due to aggressive environmental and mechanical stresses...
Augmented Hill-Climb increases reinforcement learning efficiency for language-based de novo molecule generation.
A plethora of AI-based techniques now exists to conduct de novo molecule generation that can devise molecules conditioned towards a particular endpoint in the context of drug design. One popular approach is using reinforcement...
Le Diable dans la bibliothèque
Dans Thinking with Demons (1997), Stuart Clark a montré que la démonologie, cette composante essentielle de la pensée de la première modernité, n’était pas une affaire de spécialistes: ‘penser avec le diable’ était une activité...
Determinantes de la movilidad ocupacional segmentada de los inmigrantes no comunitarios en España
La literatura sobre la integración económica de los inmigrantes ha destacado la existencia de un patrón de movilidad en forma de «U». En este artículo discutimos esta argumentación partiendo de las teorías de la segmentación del...
Economic Integration of Immigrants International Migration Labor Market Segmentation Segmented Occupational Mobility Spain Anthropology Social and Cultural Anthropology Sociology
Published by: Winthrop University
The Expansion of Approximant /r/ in Dutch
Renée Van Bezooijen
Sep 30, 2014
In present-day Standard Dutch as spoken in the Netherlands, three main categories of pronunciation variants of Irl can be distinguished, namely alveolar /r/, uvular /r/, and approximant /r/. Approximant /r/, the focus of this...
Published by: Atlantic Provinces Linguistic Association
Christian de Duve, 1963
The Rockefeller University
Jan 01, 0001
Christian de Duve. The separation and characterization of subcellular particles.
Lecture delivered November 21, 1963
Posted with permission
Published by: Academic Press
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