第915回千葉医学会例会・第12回千葉精神科集談会

SNP-array data of Patient 1. (XLSX 13 kb

Three Chinese pair twins with pulmonary atresia and/or tetralogy of Fallot.

<p>PA, pulmonary atresia; TOF, tetralogy of Fallot; y, years; m, month; F, female</p

Rare CNVs identified in 82 patients with pulmonary atresia.

<p>P, pathogenic; UK, unknown; PP, potentially pathogenic.</p

Rare CNVs related to folate and Vitamin B₁₂ metabolism.

<p>(A) SNP-array shows a 4.8 Mb duplication at 5q14.1 (chr5:75132315-79958945); (B) A 175-kb duplication at 10p13 (chr10:16883466-17058324) (UCSC Genome Browser on Human GRCh37/hg19 Assembly). Log R ratio and B alle frequency are showed in the upper panel and annotated genes are listed in the lower panel. (C) Summary of Folate metabolic pathway (Methionine-Homocysteine-Folate-B12 Cycle). DHF, dihydrofolate; THF, tetrahydrofolate; DHFR, dihydrofolate reductase; MTHFR, methylenetetrahydrofolate reductase; SHMT, serine hydroxyl-methyltransferase; MAT, methionine adenosyltransferase; SAH, S-adenosylhomocysteine; SAM, S-adenosylmethionine; MTR, methionine synthase; PRMT, protein arginine methyltransferase; CUBN, Cubilin. Adapted from Lee <i>et al </i><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0096471#pone.0096471-GueantRodriguez1" target="_blank">[41]</a>.</p

Illumina SNP-array result of the 17p13.2 region in patient 827979.

<p>(A) SNP based array shows a 1.05 Mb deletion at 17p13.2 (chr17:4041358-5091377) (Human GRCh37/hg19 Assembly). B allele frequency and Log R ratio are showed in the upper panel; (B) The lower panel shows genes mapped to the deleted region. OMIM genes are highlighted in green, DGV structure variants and Segmental Duplications are also enclosed in the lower panel.</p

CNVs in the dizygotic twin sisters of Family 1.

<p>(A) Pedigree of family1 with dizygotic twins with PA. (B) Comparison of CNVs at 3p26.3-p26.1 and 10p15.3-p15.1 locus in twinA, twinB and the healthy mother. A minimal 620-kb duplication at 10p15.3 (chr10:103934-724229) was found in the twin sisters but not presented in the healthy mother. Annotated genes within this region are listed in the lower panel.</p

A conducting nano-filament (CNF) network as a precursor to the origin of superconductivity in electron-doped copper oxides

Emergency of superconductivity at the instabilities of antiferromagnetism has been widely recognized in unconventional superconductors. In copper-oxide superconductors, spin fluctuations play a predominant role in electron pairing with electron dopants yet composite orders veil the nature of superconductivity for hole-doped family. However, in electron-doped copper oxide superconductors (cuprates) the AFM critical end point is still in controversy for different probes, demonstrating high sensitivity to oxygen content. Here, by carefully tuning the oxygen content, a systematic study of the Hall signal and magnetoresistivity up to 58 Tesla on LCCO thin films identifies two characteristic temperatures. The former is quite robust, whereas the latter becomes flexible with increasing magnetic field, thereby linking respectively to two- and three-dimensional AFM, evident from the multidimensional phase diagram as a function of oxygen and Ce dopants. A rigorous theoretical analysis of the presented data suggest the existence of conductive nano-filamentary structures that effectively corroborate all previously reported field studies. The new findings provide a uniquely consistent alternative picture in understanding the interactions between AFM and superconductivity in electron-doped cuprates and offer a consolidating interpretation to the pioneering scaling law in cuprates recently established by Bozovic et al. (Nature, 2016

LaMn₃Ni₂Mn₂O₁₂: An A- and B‑Site Ordered Quadruple Perovskite with A‑Site Tuning Orthogonal Spin Ordering

A new oxide, LaMn₃Ni₂Mn₂O₁₂, was prepared by high-pressure and high-temperature synthesis methods. The compound crystallizes in an AA′₃B₂B′₂O₁₂-type A-site and B-site ordered quadruple perovskite structure. The charge combination is confirmed to be LaMn³⁺₃Ni²⁺₂Mn⁴⁺₂O₁₂, where La and Mn³⁺ are 1:3 ordered at the A and A′ sites and the Ni²⁺ and Mn⁴⁺ are also distributed at the B and B′ sites in an orderly fashion in a rocksalt-type manner, respectively. A G-type antiferromagnetic ordering originating from the A′-site Mn³⁺ sublattice is found to occur at <i>T</i>_N ≈ 46 K. Subsequently, the spin coupling between the B-site Ni²⁺ and B′-site Mn⁴⁺ sublattices leads to an orthogonally ordered spin alignment with a net ferromagnetic component near <i>T</i>_C ≈ 34 K. First-principles calculations demonstrate that the A′-site Mn³⁺ spins play a crucial role in determining the spin structure of the B and B′ sites. This LaMn₃Ni₂Mn₂O₁₂ provides a rare example that shows orthogonal spin ordering in the B and B′ sites assisted by ordered A-site magnetic ions in perovskite systems