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2. Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder.

Author

Chien, Wei-Hsien, Chen, Chia-Hsiang, Cheng, Min-Chih, Wu, Yu-Yu, and Gau, Susan Shur-Fen

Subjects
*AUTISM spectrum disorders, *NEUREGULINS, *GENE expression, *GENE expression profiling, *PROTEIN precursors, *SINGLE nucleotide polymorphisms
Abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene expression profiling identified significantly different neuregulin-2 gene (NRG2) expression between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results. The average NRG2 gene expression level in patients with ASD (3.23 ± 2.80) was significantly lower than that in the controls (9.27 ± 4.78, p < 0.001). Next, we conducted resequencing of all the exons of NRG2 in a sample of 349 individuals with ASD, aiming to identify variants of the NRG2 associated with ASD. We identified three variants, including two single nucleotide variants (SNVs), IVS3 + 13A > G (rs889022) and IVS10 + 32T > A (rs182642591), and one small deletion at exon 11 of NRG2 (delGCCCGG, rs933769137). Using data from the Taiwan Biobank as the controls, we found no significant differences in allele frequencies of rs889022 and rs182642591 between two groups. However, there is a significant difference in the genotype and allele frequency distribution of rs933769137 between ASDs and controls (p < 0.0001). The small deletion is located in the EGF-like domain at the C-terminal of the NRG2 precursor protein. Our findings suggest that NRG2 might be a susceptibility gene for ASD. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Air-stable redox-active nanomagnets with lanthanide spins radical-bridged by a metal–metal bond

Author

Liu, Fupin, Velkos, Georgios, Krylov, Denis S., Spree, Lukas, Zalibera, Michal, Ray, Rajyavardhan, Samoylova, Nataliya A., Chen, Chia-Hsiang, Rosenkranz, Marco, Schiemenz, Sandra, Ziegs, Frank, Nenkov, Konstantin, Kostanyan, Aram, Greber, Thomas, Wolter, Anja U. B., Richter, Manuel, Büchner, Bernd, Avdoshenko, Stanislav M., and Popov, Alexey A.

Published
2019
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11. Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families.

Author

Chung, I-Hang, Huang, Yu-Shu, Fang, Ting-Hsuan, and Chen, Chia-Hsiang

Subjects
WHOLE genome sequencing, AFFECTIVE disorders, MENTAL illness, SCHIZOPHRENIA, FAMILIES, NUCLEOTIDE sequencing, EXOMES
Abstract

Schizophrenia and affective disorder are two major complex mental disorders with high heritability. Evidence shows that rare variants with significant clinical impacts contribute to the genetic liability of these two disorders. Also, rare variants associated with schizophrenia and affective disorders are highly personalized; each patient may carry different variants. We used whole genome sequencing analysis to study the genetic basis of two families with schizophrenia and major depressive disorder. We did not detect de novo, autosomal dominant, or recessive pathogenic or likely pathogenic variants associated with psychiatric disorders in these two families. Nevertheless, we identified multiple rare inherited variants with unknown significance in the probands. In family 1, with singleton schizophrenia, we detected four rare variants in genes implicated in schizophrenia, including p.Arg1627Trp of LAMA2, p.Pro1338Ser of CSMD1, p.Arg691Gly of TLR4, and Arg182X of AGTR2. The p.Arg691Gly of TLR4 was inherited from the father, while the other three were inherited from the mother. In family 2, with two affected sisters diagnosed with major depressive disorder, we detected three rare variants shared by the two sisters in three genes implicated in affective disorders, including p.Ala4551Gly of FAT1, p.Val231Leu of HOMER3, and p.Ile185Met of GPM6B. These three rare variants were assumed to be inherited from their parents. Prompted by these findings, we suggest that these rare inherited variants may interact with each other and lead to psychiatric conditions in these two families. Our observations support the conclusion that inherited rare variants may contribute to the heritability of psychiatric disorders. [ABSTRACT FROM AUTHOR]

Published
2023
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42. Magnetic Hysteresis at 10 K in Single Molecule Magnet Self‐Assembled on Gold

Author

Chen, Chia‐Hsiang, primary, Spree, Lukas, additional, Koutsouflakis, Emmanouil, additional, Krylov, Denis S., additional, Liu, Fupin, additional, Brandenburg, Ariane, additional, Velkos, Georgios, additional, Schimmel, Sebastian, additional, Avdoshenko, Stanislav M., additional, Fedorov, Alexander, additional, Weschke, Eugen, additional, Choueikani, Fadi, additional, Ohresser, Philippe, additional, Dreiser, Jan, additional, Büchner, Bernd, additional, and Popov, Alexey A., additional

Published
2021
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49. Selective arc-discharge synthesis of Dy2S-clusterfullerenes and their isomer-dependent single molecule magnetism† †Electronic supplementary information (ESI) available. CCDC 1546957 and 1551313. For ESI and crystallographic data in CIF or other electronic format see DOI: 10.1039/c7sc02395b

Author

Chen, Chia-Hsiang, Krylov, Denis S., Avdoshenko, Stanislav M., Liu, Fupin, Spree, Lukas, Yadav, Ravi, Alvertis, Antonis, Hozoi, Liviu, Nenkov, Konstantin, Kostanyan, Aram, Greber, Thomas, Wolter, Anja U. B., and Popov, Alexey A.

Subjects
Chemistry
Abstract

Dy-sulfide clusterfullerene single molecule magnets are synthesized selectively, and their relaxation of magnetization is thoroughly studied by DC and AC-magnetometry., A method for the selective synthesis of sulfide clusterfullerenes Dy2S@C2n is developed. Addition of methane to the reactive atmosphere reduces the formation of empty fullerenes in the arc-discharge synthesis, whereas the use of Dy2S3 as a source of metal and sulfur affords sulfide clusterfullerenes as the main fullerene products along with smaller amounts of carbide clusterfullerenes. Two isomers of Dy2S@C82 with Cs(6) and C3v(8) cage symmetry, Dy2S@C72-Cs(10528), and a carbide clusterfullerene Dy2C2@C82-Cs(6) were isolated. The molecular structure of both Dy2S@C82 isomers was elucidated by single-crystal X-ray diffraction. SQUID magnetometry demonstrates that all of these clusterfullerenes exhibit hysteresis of magnetization, with Dy2S@C82-C3v(8) being the strongest single molecule magnet in the series. DC- and AC-susceptibility measurements were used to determine magnetization relaxation times in the temperature range from 1.6 K to 70 K. Unprecedented magnetization relaxation dynamics with three consequent Orbach processes and energy barriers of 10.5, 48, and 1232 K are determined for Dy2S@C82-C3v(8). Dy2S@C82-Cs(6) exhibits faster relaxation of magnetization with two barriers of 15.2 and 523 K. Ab initio calculations were used to interpret experimental data and compare the Dy-sulfide clusterfullerenes to other Dy-clusterfullerenes. The smallest and largest barriers are ascribed to the exchange/dipolar barrier and relaxation via crystal-field states, respectively, whereas an intermediate energy barrier of 48 K in Dy2S@C82-C3v(8) is assigned to the local phonon mode, corresponding to the librational motion of the Dy2S cluster inside the carbon cage.

Published
2017

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