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 $O_P$ center in $GaP$. 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

Кардиомиопатии, ассоциированные с мутациями гена десмина: молекулярный патогенез и генотерапевтические подходы

Cardiomyopathy (CMP) is a 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. A  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 “gain-of-function mutations” 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.Кардиомиопатия – широко распространенная группа заболеваний сердечно-сосудистой системы. Генетически обусловленные кардиомиопатии связывают с  нарушениями более чем в 100 различных генах, в том числе в гене DES, кодирующем белок десмин  – один из основных белков промежуточных филаментов, обеспечивающих структурную и функциональную целостность миоцитов. Мутации в  гене DES приводят к  развитию десминзависимых кардиомиопатий, характеризующихся высокой степенью тяжести течения и неблагоприятным прогнозом. До настоящего времени специфического лечения кардиомиопатии не разработано. Имеющиеся консервативные и хирургические подходы направлены на замедление темпов прогрессирования сердечной недостаточности и  профилактику внезапной сердечной смерти, но их эффективность ограничена. Развитие методов генотерапии и  геномного редактирования может способствовать созданию эффективных методов этиотропной терапии десминопатий. Опубликован ряд работ, посвященных применению методов генотерапии при кардиомиопатиях различной генетической природы, включая ассоциированные с мутациями в гене DES. В области терапии десминопатий методы геномного редактирования пока не используются. Тем не менее многообещающие результаты получены при использовании систем редактирования CRISPR/Cas9 и  TALEN для коррекции “gain-of-function” мутаций в  некоторых других генах, таких как MYBPC3 и PLN. Имеются данные, указывающие на возможность улучшения симптоматики десминзависимой кардиомиопатии, вплоть до бессимптомного течения после нокаута мутантного аллеля с сохранением функции белка за счет экспрессии только нормального аллеля. Мы считаем, что подходы, основанные на технологии геномного редактирования, представляют собой перспективное направление для разработки эффективных специфических методов лечения десминопатий

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 O–H vibrational mode at 3373 cm−1 (10 K). 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 3373 cm−1 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 3373 cm−1 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 cm−1 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 CytoTune™-iPS 2.0 Sendai Reprogramming Kit. We verified variant c.808 T > G and insertion in GLB1 gene, as well as two mutations, c.6992 T > C and c.805C > 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