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- Rodriguez-Palmero, Agusti, et al.
(author)
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DLG4-related synaptopathy : a new rare brain disorder
- 2021
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899
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Journal article (peer-reviewed)abstract
- PurposePostsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.ResultsThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.ConclusionThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.
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- Marino, T., et al.
(author)
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Photocatalytic activity and synthesis procedures of TiO2 nanoparticles for potential applications in membranes
- 2017
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In: Application of Nanotechnology in Membranes for Water Treatment. - : CRC Press. - 9781351715263 - 9781138896581 ; , s. 127-146
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Book chapter (other academic/artistic)abstract
- Heterogeneous photocatalysis based on oxide semiconductors is a promising technique for the prevention of microbial proliferation and to limit the growth of microorganisms. Among the studied photocatalysts, titanium dioxide (TiO2) represents one of the most interesting materials, due to its low cost, biocompatibility, chemical and thermal stability, and notable optical and dielectric properties. It exists in three polymorphic forms: rutile, which is the most stable form, anatase and brookite, both of which are metastable and convert into rutile upon heating. TiO2 nanoparticles can be efficiently obtained via different synthesis techniques, such as sol-gel, sol, hydrothermal, solvothermal, direct oxidation, chemical or physical vapor deposition, microwave, and reverse micelle methods, which offer the possibility to obtain well-controlled nanoparticle size and morphology. In the different TiO2 applications, its antimicrobial action has attracted a lot of attention in the last few decades. Particularly promising are the hybrid or mixed matrix TiO2- polymeric membranes, which allow separation and simultaneous photocatalytic reaction, without requiring any catalyst recovery operation. Several works have been published on the efficiency of the hybrid inorganic-organic membranes as antimicrobial systems, for bacteria, viruses, fungi and algae disruption. The TiO2 incorporation in/on the polymeric membrane also allows the reduction of fouling and at the same time highly improves water permeability and self-cleaning ability.
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