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Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research., (© 2024. The Author(s).)

Ratchet devices allow turning an ac input signal into a dc output signal. A ratchet device is set by moving particles driven by zero averages forces on asymmetric potentials. Hybrid nanostructures combining artificially fabricated spin ice nanomagnet arrays with superconducting films have been identified as a good choice to develop ratchet nanodevices. In the current device, the asymmetric potentials are provided by charged Néel walls located in the vertices of spin ice magnetic honeycomb array, whereas the role of moving particles is played by superconducting vortices. We have experimentally obtained ratchet effect for different spin ice I configurations and for vortex lattice moving parallel or perpendicular to magnetic easy axes. Remarkably, the ratchet magnitudes are similar in all the experimental runs; i. e. different spin ice I configurations and in both relevant directions of the vortex lattice motion. We have simulated the interplay between vortex motion directions and a single asymmetric potential. It turns out vortices interact with uneven asymmetric potentials, since they move with trajectories crossing charged Néel walls with different orientations. Moreover, we have found out the asymmetric pair potentials which generate the local ratchet effect. In this rocking ratchet the particles (vortices) on the move are interacting each other (vortex lattice); therefore, the ratchet local effect turns into a global macroscopic effect. In summary, this ratchet device benefits from interacting particles moving in robust and topological protected type I spin ice landscapes., (© 2021. The Author(s).)

Little-Parks effect names the oscillations in the superconducting critical temperature as a function of the magnetic field. This effect is related to the geometry of the sample. In this work, we show that this effect can be enhanced and manipulated by the inclusion of magnetic nanostructures with perpendicular magnetization. These magnetic nanodots generate stray fields with enough strength to produce superconducting vortex-antivortex pairs. So that, the L-P effect deviation from the usual geometrical constrictions is due to the interplay between local magnetic stray fields and superconducting vortices. Moreover, we compare our results with a low-stray field sample (i.e. with the dots in magnetic vortex state) showing how the enhancement of the L-P effect can be explained by an increment of the effective size of the nanodots.

We have studied two nanomagnet systems with strong (Co/Pd multilayers) and weak (NdCo alloy films) stray magnetic fields by probing the out-of-plane magnetic states with superconducting vortices. The hybrid samples are made of array of nanomagnets embedded in superconducting Nb thin films. The vortex motion detects relevant magnetic state features, since superconducting vortices are able to discriminate between different magnetic stray field strengths and directions. The usual matching effect between the superconducting vortex lattice and the periodic pinning array can be quenched by means of disorder magnetic potentials with strong stray fields at random. Ordered stray fields retrieve the matching effect and yield asymmetry and shift in the vortex dissipation signal. Furthermore vortices can discriminate the sizes of the nanomagnet magnetic domains, detecting magnetic domain sizes as small as 70 nm. In addition, we observe that the vortex cores play the crucial role instead of the supercurrents around the vortex.

We present a simple nanodevice that can operate in two modes: i) non-volatile three-state memory and ii) reading device. The nanodevice can retain three well defined states -1, 0 and +1 and can operate in a second mode as a sensor for external magnetic fields. The nanodevice is fabricated with an array of ordered triangular-shaped nanomagnets embedded in a superconducting thin film gown on Si substrates. The device runs based on the combination of superconducting vortex ratchet effect (superconducting film) with the out of plane magnetization (nanomagnets). The input signals are ac currents and the output signal are dc voltages. The memory mode is realized without applying a magnetic field and the nanomagnet stray magnetic fields govern the effect. In the sensor mode an external magnetic field is applied. The main characteristic of this mode is that the output signal is null for a precise value of the external magnetic field that only depends on the fabrication characteristics of the nanodevice.