Results 91 to 100 of about 1,902,450 (297)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Entropy of conformal perturbation defects

, 2014
We consider perturbation defects obtained by perturbing a 2D conformal field theory (CFT) by a relevant operator on a half-plane. If the perturbed bulk theory flows to an infrared fixed point described by another CFT, the defect flows to a conformal ...
Konechny, Anatoly, Schmidt-Colinet, Cornelius   +1 more
core   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

FEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan, Jingling Huang, Xiang Lin, Tingjiao Lan, Yuli Tang, Ling Sun, Guixuan Zhou   +6 more
wiley   +1 more source

Effects of inhomogeneous broadening on reflection spectra of Bragg multiple quantum well structures with a defect

, 2003
The reflection spectrum of a multiple quantum well structure with an inserted defect well is considered. The defect is characterized by the exciton frequency different from that of the host's wells.
A. A. Lisyansky, A.V. Kavokin, A.V. Kavokin, C. Bosio, C. Ell, D.M. Whittaker, D.S. Citrin, D.S. Citrin, D.S. Citrin, E.L. Ivchenko, E.L. Ivchenko, E.L. Ivchenko, G. Khitrova, G. Malpuech, G. Malpuech, G.R. Hayes, J.P. Prineas, J.P. Prineas, L. I. Deych, L.C. Andreani, L.C. Andreani, L.C. Andreani, L.I. Deych, L.I. Deych, L.I. Deych, L.I. Deych, L.I. Deych, L.V. Keldysh, M. Hübner, M. Hübner, M. Litinskaya, M. V. Erementchouk, M.P. Vladimirova, N. Grandjean, P. Borri, P. Kinsler, S. Haas, T. Stroucken, V. Savona, Y. Merle, Y. Zhu, Z.R. Wasilewski   +41 more
core   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

International Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q, Guo Y, Liang B, Chen M, Wu X, Lin N, Huang H, Xu L   +7 more
doaj  

Neonatal and maternal adverse outcomes among low-risk nulliparous women compared with multiparous women at 37–41 weeks of gestation: a cohort study in South China

Frontiers in Medicine
ObjectiveThe objective of this study was to compare the differences in neonatal and maternal adverse outcomes between low-risk full-term nulliparous (women giving birth for the first time) and low-risk full-term multiparous (women who have given birth ...
Yiping Liu, Bo Li, Jie Liu, Bin Wen, Chuan Xiao, Yaru Chen, Fanjuan Kong   +6 more
doaj   +1 more source

Universal conductance reduction in a quantum wire

, 2003
Even a single point defect in a quantum wire causes a conductance reduction. In this paper we prove (without any approximations) that for any point impurity this conductance reduction in all the sub-bands is exactly 2e^2/h.
E Granot, Granot E., Landauer R., Landauer R.   +3 more
core   +1 more source