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- Rodriguez-Palmero, Agusti, et al.
(författare)
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DLG4-related synaptopathy : a new rare brain disorder
- 2021
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899
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Tidskriftsartikel (refereegranskat)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 Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration.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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- Zhou, L. J., et al.
(författare)
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Electric fatigue in antiferroelectric lead zirconate stannate titanate ceramics prepared by spark plasma sintering
- 2005
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Ingår i: Journal of The American Ceramic Society. - : American Ceramic Society. - 0002-7820 .- 1551-2916. ; 88:10, s. 2952-2954
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Tidskriftsartikel (refereegranskat)abstract
- The fatigue behavior of lead zirconate stannate titanate (PZST) ceramics prepared by spark plasma sintering (SPS) was investigated. Polarization and strain hysteresis loops were monitored. The material shows a high resistance to fatigue because of bipolar electric cycling. Both maximum strain and switchable polarization first show a fatigue stage 0 to 10(5) cycles and then a fatigue-free period up to 10(8) cycles. The maximum losses of maximum strain and switchable polarization are 18% and 10% of their initial values, respectively. The dominant fatigue mechanism is assigned to the pinning of domain walls by charged defects.
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- Zhou, L. J., et al.
(författare)
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Electric fatigue in ferroelectric lead zirconate stannate titanate ceramics prepared by spark plasma sintering
- 2006
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Ingår i: Journal of The American Ceramic Society. - : Wiley. - 0002-7820 .- 1551-2916. ; 89:12, s. 3868-3870
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Tidskriftsartikel (refereegranskat)abstract
- Ferroelectric lead zirconate stannate titanate ceramics were prepared by spark plasma sintering (SPS). Compared with its counterpart densified by conventional sintering (CS), the SPS material shows a smaller remanent polarization and maximum strain as well as a higher coercive field. Electric fatigue in both materials was investigated. In contrast to CS samples, the SPS specimens show a lower resistance to bipolar electric cycling, characterized by a faster decrease in remanent polarization and maximum strain at cycle number below 10(6.5) and a subsequent slower reduction of the properties at high cycle numbers up to 10(8).
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- Zhou, L. J., et al.
(författare)
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Preparation and properties of lead zirconate stannate titanate sintered by spark plasma sintering
- 2004
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Ingår i: Journal of The American Ceramic Society. - : American Ceramic Society. - 0002-7820 .- 1551-2916. ; 87:4, s. 606-611
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Tidskriftsartikel (refereegranskat)abstract
- Lanthanum-doped lead zirconate stannate titanate ceramics were successfully compacted to full density by spark plasma sintering (SPS). SPS samples densified at 900degrees or 950degreesC exhibit nearly full density and fine grain size (about 300 nm). Compared with samples from conventional sintering (CS), SPS samples show larger permittivity accompanied by a deterioration in dielectric loss and special strain hysteresis loops similar to those of ferroelectric relaxors, with a diffuse AFE-FE phase transition and less field-induced longitudinal strain. The differences in the properties of SPS and CS materials are attributed to the variations of the resultant microstructures, especially the grain size, of the ceramics.
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