Mirnome study and functional characterization of LDLR: An integrated approach to identify pathogenicity mechanisms in familial hypercholesterolemia patients without causative mutations

2018 ◽  
Vol 275 ◽  
pp. e23
Author(s):  
M.D. Di taranto ◽  
C. Giacobbe ◽  
A. Scotto di Frega ◽  
A. Cordella ◽  
G. Giurato ◽  
...  
2021 ◽  
Author(s):  
◽  
Agnes L. Bodor ◽  
Akhilesh Halageri ◽  
Amy Sterling ◽  
Andreas S. Tolias ◽  
...  

The value of an integrated approach for understanding the neocortex by combining functional characterization of single neuron activity with the underlying circuit architecture has been understood since the dawn of modern neuroscience. However, in practice, anatomical connectivity and physiology have been studied mostly separately. Following in the footsteps of previous studies that have combined physiology and anatomy in the same tissue, here we present a unique functional connectomics dataset that contains calcium imaging of an estimated 75,000 neurons from primary visual cortex (VISp) and three higher visual areas (VISrl, VISal and VISlm), that were recorded while a mouse viewed natural movies and parametric stimuli. The functional data were co-registered with electron microscopy (EM) data of the same volume which were automatically segmented, reconstructing more than 200,000 cells (neuronal and non-neuronal) and 524 million synapses. Subsequent proofreading of some neurons in this volume yielded reconstructions that include complete dendritic trees as well the local and inter-areal axonal projections. The largest proofread excitatory axon reached a length of 19 mm and formed 1,893 synapses, while the largest inhibitory axon formed 10,081 synapses. Here we release this dataset as an open access resource to the scientific community including a set of analysis tools that allows easy data access, both programmatically and through a web user interface.


Gene ◽  
2008 ◽  
Vol 416 (1-2) ◽  
pp. 30-43 ◽  
Author(s):  
Antonis D. Lampidonis ◽  
Alexandros Argyrokastritis ◽  
Dimitrios J. Stravopodis ◽  
Gerassimos E. Voutsinas ◽  
Triantafyllia G. Ntouroupi ◽  
...  

2010 ◽  
Vol 210 (2) ◽  
pp. 493-496 ◽  
Author(s):  
Maria Romano ◽  
Maria Donata Di Taranto ◽  
Maria Nicoletta D’Agostino ◽  
Gennaro Marotta ◽  
Marco Gentile ◽  
...  

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.


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