15 research outputs found
Flux growth of superconducting crystals RBa2Cu3Ox
High temperature superconductivity : new materials and properties : joint symposium of the SB RAS and the CNEAS TU / edited by Kyosuke Terayam
Tunable local polariton modes in semiconductors
We study the local states within the polariton bandgap that arise due to deep
defect centers with strong electron-phonon coupling. Electron transitions
involving deep levels may result in alteration of local elastic constants. In
this case, substantial reversible transformations of the impurity polariton
density of states occur, which include the appearance/disappearance of the
polariton impurity band, its shift and/or the modification of its shape. These
changes can be induced by thermo- and photo-excitation of the localized
electron states or by trapping of injected charge carriers. We develop a simple
model, which is applied to the center in . Further possible
experimental realizations of the effect are discussed.Comment: 7 pages, 3 figure
Infrared activity of hydrogen molecules trapped in Si
The rovibrational-translational states of a hydrogen molecule moving in a cage site in Si, when subjected to an electrical field arising from its surroundings, are investigated. The wave functions are expressed in terms of basis functions consisting of the eigenfunctions of the molecule confined to move in the cavity and rovibrational states of the free molecule. The energy levels, intensities of infrared and Raman transitions, effects of uniaxial stress, and a neighboring oxygen defect are found and compared with existing experimental data
ΠΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΠΈ, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΠ΅ Ρ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π³Π΅Π½Π° Π΄Π΅ΡΠΌΠΈΠ½Π°: ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΡΠΉ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅Π· ΠΈ Π³Π΅Π½ΠΎΡΠ΅ΡΠ°ΠΏΠ΅Π²ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΠΎΠ΄Ρ ΠΎΠ΄Ρ
Cardiomyopathy (CMP) is aΒ common group of cardiovascular disorders. Genetic (primary) cardiomyopathies are related to abnormalities in more than 100 genes, including the DES gene encoding desmin protein. Desmin is an essential member of the intermediate filaments, ensuring the structural and functional integrity of myocytes. Mutations in the DES gene result in desmin-related cardiomyopathy with progressive course and poor prognosis. By now, specific therapy for cardiomyopathy has not been developed. Existing conservative and surgical treatment modalities target the rate of heart failure progression and sudden cardiac death prevention but have limited efficacy. The development of gene therapy and genome editing could allow for creating effective and specific methods of gene-based therapy for desminopathies. AΒ number of studies have been published on the use of gene therapy for various genetic cardiomyopathies including those caused by the DES gene mutations, while genome editing has not been used yet. However, promising results have been obtained with CRISPR/Cas9 and TALEN editing systems to correct for βgain-of-function mutationsβ in some other genes, such as MYBPC3 and PLN. There is also evidence of the possibility to reduce the symptoms of desmin-related cardiomyopathy up to the normal function by knocking out the mutant DES allele, and preserved protein function provided by expression of the normal allele. We believe that genome editing approaches have an open perspective into the development of specific and effective methods to treat desminopathies.ΠΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΡΒ β ΡΠΈΡΠΎΠΊΠΎ ΡΠ°ΡΠΏΡΠΎΡΡΡΠ°Π½Π΅Π½Π½Π°Ρ Π³ΡΡΠΏΠΏΠ° Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ ΡΠ΅ΡΠ΄Π΅ΡΠ½ΠΎ-ΡΠΎΡΡΠ΄ΠΈΡΡΠΎΠΉ ΡΠΈΡΡΠ΅ΠΌΡ. ΠΠ΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈ ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Π½ΡΠ΅ ΠΊΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΠΈ ΡΠ²ΡΠ·ΡΠ²Π°ΡΡ ΡΒ Π½Π°ΡΡΡΠ΅Π½ΠΈΡΠΌΠΈ Π±ΠΎΠ»Π΅Π΅ ΡΠ΅ΠΌ Π²Β 100 ΡΠ°Π·Π»ΠΈΡΠ½ΡΡ
Π³Π΅Π½Π°Ρ
, Π²Β ΡΠΎΠΌ ΡΠΈΡΠ»Π΅ Π²Β Π³Π΅Π½Π΅ DES, ΠΊΠΎΠ΄ΠΈΡΡΡΡΠ΅ΠΌ Π±Π΅Π»ΠΎΠΊ Π΄Π΅ΡΠΌΠΈΠ½Β β ΠΎΠ΄ΠΈΠ½ ΠΈΠ· ΠΎΡΠ½ΠΎΠ²Π½ΡΡ
Π±Π΅Π»ΠΊΠΎΠ² ΠΏΡΠΎΠΌΠ΅ΠΆΡΡΠΎΡΠ½ΡΡ
ΡΠΈΠ»Π°ΠΌΠ΅Π½ΡΠΎΠ², ΠΎΠ±Π΅ΡΠΏΠ΅ΡΠΈΠ²Π°ΡΡΠΈΡ
ΡΡΡΡΠΊΡΡΡΠ½ΡΡ ΠΈΒ ΡΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΡΡ ΡΠ΅Π»ΠΎΡΡΠ½ΠΎΡΡΡ ΠΌΠΈΠΎΡΠΈΡΠΎΠ². ΠΡΡΠ°ΡΠΈΠΈ Π²Β Π³Π΅Π½Π΅ DES ΠΏΡΠΈΠ²ΠΎΠ΄ΡΡ ΠΊΒ ΡΠ°Π·Π²ΠΈΡΠΈΡ Π΄Π΅ΡΠΌΠΈΠ½Π·Π°Π²ΠΈΡΠΈΠΌΡΡ
ΠΊΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΠΉ, Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΡΡΡΠΈΡ
ΡΡ Π²ΡΡΠΎΠΊΠΎΠΉ ΡΡΠ΅ΠΏΠ΅Π½ΡΡ ΡΡΠΆΠ΅ΡΡΠΈ ΡΠ΅ΡΠ΅Π½ΠΈΡ ΠΈΒ Π½Π΅Π±Π»Π°Π³ΠΎΠΏΡΠΈΡΡΠ½ΡΠΌ ΠΏΡΠΎΠ³Π½ΠΎΠ·ΠΎΠΌ. ΠΠΎ Π½Π°ΡΡΠΎΡΡΠ΅Π³ΠΎ Π²ΡΠ΅ΠΌΠ΅Π½ΠΈ ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ Π»Π΅ΡΠ΅Π½ΠΈΡ ΠΊΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΠΈ Π½Π΅ ΡΠ°Π·ΡΠ°Π±ΠΎΡΠ°Π½ΠΎ. ΠΠΌΠ΅ΡΡΠΈΠ΅ΡΡ ΠΊΠΎΠ½ΡΠ΅ΡΠ²Π°ΡΠΈΠ²Π½ΡΠ΅ ΠΈΒ Ρ
ΠΈΡΡΡΠ³ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄Ρ Π½Π°ΠΏΡΠ°Π²Π»Π΅Π½Ρ Π½Π° Π·Π°ΠΌΠ΅Π΄Π»Π΅Π½ΠΈΠ΅ ΡΠ΅ΠΌΠΏΠΎΠ² ΠΏΡΠΎΠ³ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΡΠ΅ΡΠ΄Π΅ΡΠ½ΠΎΠΉ Π½Π΅Π΄ΠΎΡΡΠ°ΡΠΎΡΠ½ΠΎΡΡΠΈ ΠΈΒ ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΠΊΡ Π²Π½Π΅Π·Π°ΠΏΠ½ΠΎΠΉ ΡΠ΅ΡΠ΄Π΅ΡΠ½ΠΎΠΉ ΡΠΌΠ΅ΡΡΠΈ, Π½ΠΎ ΠΈΡ
ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΡ ΠΎΠ³ΡΠ°Π½ΠΈΡΠ΅Π½Π°. Π Π°Π·Π²ΠΈΡΠΈΠ΅ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² Π³Π΅Π½ΠΎΡΠ΅ΡΠ°ΠΏΠΈΠΈ ΠΈΒ Π³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅Π΄Π°ΠΊΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΌΠΎΠΆΠ΅Ρ ΡΠΏΠΎΡΠΎΠ±ΡΡΠ²ΠΎΠ²Π°ΡΡ ΡΠΎΠ·Π΄Π°Π½ΠΈΡ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΡΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² ΡΡΠΈΠΎΡΡΠΎΠΏΠ½ΠΎΠΉ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ Π΄Π΅ΡΠΌΠΈΠ½ΠΎΠΏΠ°ΡΠΈΠΉ. ΠΠΏΡΠ±Π»ΠΈΠΊΠΎΠ²Π°Π½ ΡΡΠ΄ ΡΠ°Π±ΠΎΡ, ΠΏΠΎΡΠ²ΡΡΠ΅Π½Π½ΡΡ
ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΡ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² Π³Π΅Π½ΠΎΡΠ΅ΡΠ°ΠΏΠΈΠΈ ΠΏΡΠΈ ΠΊΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΡΡ
ΡΠ°Π·Π»ΠΈΡΠ½ΠΎΠΉ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΡΠΈΡΠΎΠ΄Ρ, Π²ΠΊΠ»ΡΡΠ°Ρ Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΠ΅ ΡΒ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π²Β Π³Π΅Π½Π΅ DES. ΠΒ ΠΎΠ±Π»Π°ΡΡΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ Π΄Π΅ΡΠΌΠΈΠ½ΠΎΠΏΠ°ΡΠΈΠΉ ΠΌΠ΅ΡΠΎΠ΄Ρ Π³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅Π΄Π°ΠΊΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΠΊΠ° Π½Π΅ ΠΈΡΠΏΠΎΠ»ΡΠ·ΡΡΡΡΡ. Π’Π΅ΠΌ Π½Π΅ ΠΌΠ΅Π½Π΅Π΅ ΠΌΠ½ΠΎΠ³ΠΎΠΎΠ±Π΅ΡΠ°ΡΡΠΈΠ΅ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΏΠΎΠ»ΡΡΠ΅Π½Ρ ΠΏΡΠΈ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠΈ ΡΠΈΡΡΠ΅ΠΌ ΡΠ΅Π΄Π°ΠΊΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ CRISPR/Cas9 ΠΈΒ TALEN Π΄Π»Ρ ΠΊΠΎΡΡΠ΅ΠΊΡΠΈΠΈ βgain-of-functionβ ΠΌΡΡΠ°ΡΠΈΠΉ Π²Β Π½Π΅ΠΊΠΎΡΠΎΡΡΡ
Π΄ΡΡΠ³ΠΈΡ
Π³Π΅Π½Π°Ρ
, ΡΠ°ΠΊΠΈΡ
ΠΊΠ°ΠΊ MYBPC3 ΠΈΒ PLN. ΠΠΌΠ΅ΡΡΡΡ Π΄Π°Π½Π½ΡΠ΅, ΡΠΊΠ°Π·ΡΠ²Π°ΡΡΠΈΠ΅ Π½Π° Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡΡ ΡΠ»ΡΡΡΠ΅Π½ΠΈΡ ΡΠΈΠΌΠΏΡΠΎΠΌΠ°ΡΠΈΠΊΠΈ Π΄Π΅ΡΠΌΠΈΠ½Π·Π°Π²ΠΈΡΠΈΠΌΠΎΠΉ ΠΊΠ°ΡΠ΄ΠΈΠΎΠΌΠΈΠΎΠΏΠ°ΡΠΈΠΈ, Π²ΠΏΠ»ΠΎΡΡ Π΄ΠΎ Π±Π΅ΡΡΠΈΠΌΠΏΡΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΡΠ΅Π½ΠΈΡ ΠΏΠΎΡΠ»Π΅ Π½ΠΎΠΊΠ°ΡΡΠ° ΠΌΡΡΠ°Π½ΡΠ½ΠΎΠ³ΠΎ Π°Π»Π»Π΅Π»Ρ ΡΒ ΡΠΎΡ
ΡΠ°Π½Π΅Π½ΠΈΠ΅ΠΌ ΡΡΠ½ΠΊΡΠΈΠΈ Π±Π΅Π»ΠΊΠ° Π·Π° ΡΡΠ΅Ρ ΡΠΊΡΠΏΡΠ΅ΡΡΠΈΠΈ ΡΠΎΠ»ΡΠΊΠΎ Π½ΠΎΡΠΌΠ°Π»ΡΠ½ΠΎΠ³ΠΎ Π°Π»Π»Π΅Π»Ρ. ΠΡ ΡΡΠΈΡΠ°Π΅ΠΌ, ΡΡΠΎ ΠΏΠΎΠ΄Ρ
ΠΎΠ΄Ρ, ΠΎΡΠ½ΠΎΠ²Π°Π½Π½ΡΠ΅ Π½Π° ΡΠ΅Ρ
Π½ΠΎΠ»ΠΎΠ³ΠΈΠΈ Π³Π΅Π½ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅Π΄Π°ΠΊΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ, ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»ΡΡΡ ΡΠΎΠ±ΠΎΠΉ ΠΏΠ΅ΡΡΠΏΠ΅ΠΊΡΠΈΠ²Π½ΠΎΠ΅ Π½Π°ΠΏΡΠ°Π²Π»Π΅Π½ΠΈΠ΅ Π΄Π»Ρ ΡΠ°Π·ΡΠ°Π±ΠΎΡΠΊΠΈ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΡΡ
ΡΠΏΠ΅ΡΠΈΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² Π»Π΅ΡΠ΅Π½ΠΈΡ Π΄Π΅ΡΠΌΠΈΠ½ΠΎΠΏΠ°ΡΠΈΠΉ
Dominant hydrogen complex in natural anatase TiO2
A study combining vibrational spectroscopy and first-principles theory is presented for a hydrogen-related defect in natural anatase TiO2 that is characterized by an OβH vibrational mode at 3373βcmβ1 (10βK). Based on complementary Raman scattering, IR absorption, electron paramagnetic resonance, and secondary ion mass spectrometry data supported also by ab initio calculations, it is tentatively proposed that the defect responsible for the 3373βcmβ1 line includes two hydroxyl units located next to a substitutional iron atom, FeTiH2. The defect may exist in at least two charge states, whereby the 3373βcmβ1 line is associated with the positive charge state of the complex
Interstitial H2 in germanium by Raman scattering and ab initio calculations
Single-crystalline germanium wafers exposed to hydrogen and/or deuterium plasma are studied by means of Raman scattering. The Raman frequencies are compared to results of ab initio calculations. For samples treated with pure hydrogen, Raman measurements performed at a temperature of 80 K reveal two sharp lines at 3826 and 3834 cmβ1 with an intensity ratio of 3:1, which are assigned to ortho- and para-H2 trapped at the interstitial T site of the lattice
Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12
We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTuneβ’-iPS 2.0 Sendai Reprogramming Kit. We verified variant c.808Β TΒ >Β G and insertion in GLB1 gene, as well as two mutations, c.6992Β TΒ >Β C and c.805CΒ >Β T, in CDH23 gene which lead to autosomal recessive hearing loss type 12. We have demonstrated normal karyotype of hiPSCs and capacity for cell differentiation into three germ layers