Showing items related by title, author, creator and subject.

• Pan-cancer analysis of whole genomes

  Campbell, P. J.; Getz, G.; Korbel, J. O.; Stuart, J. M.; Jennings, J. L.; Stein, L. D.; Perry, M. D.; Nahal-Bose, H. K.; Ouellette, B. F. F.; Li, C. H.; et al. (2020)

  Fibrosis and fat replacement in skeletal muscle are major complications that lead to a loss of mobility in chronic muscle disorders, such as muscular dystrophy. However, the in vivo properties of adipogenic stem and precursor cells remain unclear, mainly due to the high cell heterogeneity in skeletal muscles. Here, we use single-cell RNA sequencing to decomplexify interstitial cell populations in healthy and dystrophic skeletal muscles. We identify an interstitial CD142-positive cell population in mice and humans that is responsible for the inhibition of adipogenesis through GDF10 secretion. Furthermore, we show that the interstitial cell composition is completely altered in muscular dystrophy, with a near absence of CD142-positive cells. The identification of these adipo-regulatory cells in the skeletal muscle aids our understanding of the aberrant fat deposition in muscular dystrophy, paving the way for treatments that could counteract degeneration in patients with muscular dystrophy.
• Congenital dyserythropoietic anemia in China: a case report from two families and a review.

  Ru, Y; Liu, G; Bai, J; Dong, S; Nie, N; Zhang, H; Zhao, S; Zheng, Y; Zhu, X; Nie, G; et al. (2014-05)

  Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China.
• Terahertz reading of ferroelectric domain wall dielectric switching

  Zhang, M.; Chen, Z.; Yue, Y. J.; Chen, T.; Yan, Z. N.; Jiang, Q. H.; Yang, B.; Eriksson, M.; Tang, Jianhua; Zhang, D.; et al. (2021)

  Ferroelectric domain walls (DWs) are important nanoscale interfaces between two domains. It is widely accepted that ferroelectric domain walls work idly at terahertz (THz) frequencies, consequently discouraging efforts to engineer the domain walls to create new applications that utilize THz radiation. However, the present work clearly demonstrates the activity of domain walls at THz frequencies in a lead-free Aurivillius phase ferroelectric ceramic, Ca0.99Rb0.005Ce0.005Bi2Nb2O9, examined using THz-time-domain spectroscopy (THz-TDS). The dynamics of domain walls are different at kHz and THz frequencies. At low frequencies, domain walls work as a group to increase dielectric permittivity. At THz frequencies, the defective nature of domain walls serves to lower the overall dielectric permittivity. This is evidenced by higher dielectric permittivity in the THz band after poling, reflecting decreased domain wall density. An elastic vibrational model has also been used to verify that a single frustrated dipole in a domain wall represents a weaker contribution to the permittivity than its counterpart within a domain. The work represents a fundamental breakthrough in understanding the dielectric contributions of domain walls at THz frequencies. It also demonstrates that THz probing can be used to read domain wall dielectric switching.