Results 11 to 20 of about 44,102 (245)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion

open access: yesHepatology, EarlyView., 2022
The role of SMLR1 in lipid metabolism (high fat + cholesterol diet in mice) Abstract Background and Aims The assembly and secretion of VLDL from the liver, a pathway that affects hepatic and plasma lipids, remains incompletely understood. We set out to identify players in the VLDL biogenesis pathway by identifying genes that are co‐expressed with the ...
Willemien van Zwol   +22 more
wiley   +1 more source

Development of a Rooftop Collaborative Experimental Space through Experiential Learning Projects [PDF]

open access: yes, 2019
The Solar, Water, Energy, and Thermal Laboratory (SWEAT Lab) is a rooftop experimental space at the University of Texas at Austin built by graduate and undergraduate students in the Cockrell School of Engineering.
Edrey, Yuval   +4 more
core   +1 more source

Les colonnes à Jupiter de Merten (Moselle) et de Grand (Vosges) : histoire de la découverte, contexte archéologique et fiabilité d’une reconstitution du XIXe s.

open access: yesRevue Archéologique de l’Est, 2012
In the year 1878 the discovery of the fragments of a Jupiter column in Merten near Saarlouis allowed for the first time the reliable reconstruction of an example of this type of monument.
Alexander Reis
doaj   +1 more source

Load analysis of dangerous freight cistern cars during gravity hump

open access: yesВестник Научно-исследовательского института железнодорожного транспорта, 2023
Introduction. The article considers the determination of the impact velocities of empty and loaded Class 2 dangerous freight cistern cars on a gravity hump, the forces acting on the car through the automatic coupler, as well as the accelerations acting ...
D. A. Stupin   +2 more
doaj   +1 more source

Quality parameters of water stored in cisterns made of cementitious materials [PDF]

open access: yesCerâmica
The use of cisterns for water storage has been an alternative to supply water in regions with low rainfall, such as the Brazilian semi-arid region. Several studies have been conducted, proposing the use of different materials for the construction of ...
L. S. Batista   +5 more
doaj   +1 more source

Quadrigeminal cistern cystic hemangioblastoma: A transcystic approach

open access: yesInterdisciplinary Neurosurgery, 2021
Introduction: Hemangioblastomas typically present throughout the neuroaxis, particularly within the cerebellum and spinal cord. A rare case of cystic hemangioblastoma within the quadrigeminal cistern is described.
Risheng Xu   +6 more
doaj   +1 more source

Performing Lydia(s) [PDF]

open access: yes, 2016
Performing Lydia(s) is a mystery developed at Bowling Green State University and performed at the Patti Pace Performance Festival in 2010. This mystery uses Diana Taylor\u27s response to Joseph Roach\u27s theory of performance genealogy to examine pieces
Innes, Kari-Anne
core   +3 more sources

Trigeminal nerve and pathologies in magnetic resonance imaging : a pictorial review [PDF]

open access: yes, 2018
A variety of conditions may affect the trigeminal nerve. Magnetic resonance imaging is the modality of choice when trigeminal nerve pathology is suspected, and this modality plays an essential role in detecting causes. This review illustrates some of the
Akgoz, Ayca   +5 more
core   +2 more sources

Evaluation of the Şerefiye Cistern in the Context of Reuse

open access: yesProceedings of the International Conference of Contemporary Affairs in Architecture and Urbanism-ICCAUA, 2022
The cisterns, which were built under the ground to meet the city's water needs, are cultural heritage historical structures that have lost their original functions today.
Maryam Momaiyezi, Ayşe Sirel
doaj   +1 more source

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