9 research outputs found
Skyrmionic order and magnetically induced polarization change in lacunar spinel compounds GaVS and GaMoS: comparative theoretical study
We show how low-energy electronic models derived from the first-principles
electronic structure calculations can help to rationalize the magnetic
properties of two lacunar spinel compounds GaM4S8 with light (M=V) and heavy
(M=Mo) transition-metal elements, which are responsible for different
spin-orbit interaction strength. In the model, each magnetic lattice point was
associated with the M4S4 molecule, and the model itself was formulated in the
basis of molecular Wannier functions constructed for three magnetic t2 bands.
The effects of rhombohedral distortion, spin-orbit interaction, band filling,
and the screening of Coulomb interactions in the t2 bands are discussed in
details. The electronic model is further treated in the superexchange
approximation, which allows us to derive an effective spin model for the energy
and electric polarization () depending on the relative orientation of spins
in the bonds, and study the properties of this model by means of classical
Monte Carlo simulations with the emphasis on the possible formation of the
skyrmionic phase. While isotropic exchange interactions clearly dominate in
GaV4S8, all types of interactions -- isotropic, antisymmetric, and symmetric
anisotropic -- are comparable in the case of GaMo4S8. Particularly, large
uniaxial exchange anisotropy has a profound effect on the properties of
GaMo4S8. On the one hand, it raises the Curie temperature by opening a gap in
the spectrum of magnon excitations. On the other hand, it strongly affects the
skyrmionic phase by playing the role of a molecular field, which facilitates
the formation of skyrmions, but makes them relatively insensitive to the
external magnetic field in the large part of the phase diagram. We predict
reversal of the magnetic dependence of in the case of GaMo4S8 caused by the
reversal of direction of the rhombohedral distortion.Comment: 13 pages, 9 figure
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Purpose:
Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy.
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Methods:
Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy.
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Results:
Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism.
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Conclusion:
NEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic–atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems
Gene expression profile and toxic effects in human bronchial epithelial cells exposed to Zearalenone
Zearalenone (ZEA), a mycoestrogen produced by Fusarium fungal species, is mainly found in cereal crops such as maize, wheat and barley. Although ZEA has been reported to be present in air, little is known about the health risk or the molecular basis of action when lung cells are exposed to ZEA. As ZEA has a similar structure to estrogen, its potential risk as an endocrine disrupting chemical (EDC) has thus aroused both environmental and public health concerns. The purpose of this study is to identify the responses and underlying molecular changes that occur when human bronchial epithelial BEAS-2B cells are exposed to ZEA. Differential gene expression profiles were identified in cells that were treated with 40 µM ZEA for 6 h and 24 h by high-throughput microarray analysis using Affymetrix Human Gene 2.0 GeneChip. The array results showed that after ZEA treatment, 262 genes at 6 h and 1073 genes at 24 h were invovled in the differential regulation. Pathway analysis revealed that diverse cellular processes were affected when lung cells were exposed to ZEA resulting in impaired response to DNA damage, cell cycle arrest, down-regulation of inflammatory responses and alterations of epigenetic marks. Results of further experiments indicated that 40 µM ZEA decreased cell viability, induced apoptosis and promoted reactive oxygen species (ROS) generation in a time-dependent manner. Immuno-suppressive effects of ZEA were further revealed through the suppression of lipopolysaccharide (LPS)-induced expression of pro-inflammatory cytokines (IL-6, IL-8 and IL-1β). Interestingly, the level of global DNA methylation was markedly decreased after 24 h exposure to ZEA. Collectively, these observations suggested that a broad range of toxic effects are elicited by ZEA. Particularly, ROS may play a pivotal role in ZEA-induced cell death. These adverse effects observed in lung cells suggest that exposure to ZEA may increase susceptibility of lung cells to diseases and required further investigations.April 5, 2014published_or_final_versio