Showing papers by "Irina V. Grigorieva published in 2006"
TL;DR: The results elucidate further the molecular mechanisms underlying the altered functions of mutants of this zinc finger transcription factor and their role in causing this developmental anomaly and indicate that GATA3 abnormalities are more likely to result in two or more of the phenotypic features of the HDR syndrome and not in one, such as isolated hypoparathyroidism.
Abstract: The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heterozygous germline mutations were identified in patients with HDR. These consisted of three nonsense mutations, six frameshifting deletions, two frameshifting insertions, one missense (Leu348Arg) mutation and one acceptor splice site mutation. The splice site mutation was demonstrated to cause a pre-mRNA processing abnormality leading to the use of an alternative acceptor site 8 bp downstream of the normal site, resulting in a frameshift and prematurely terminated protein. Electrophoretic mobility shift assays (EMSAs) revealed three classes of GATA3 mutations: those that lead to a loss of DNA binding which represent over 90% of all mutations, and involved a loss of the carboxy-terminal zinc finger; those that resulted in a reduced DNA-binding affinity; and those (e.g. Leu348Arg) that did not alter DNA binding or the affinity but likely altered the conformational change that occurs during binding in the DNA major groove as predicted by a three-dimensional modeling. These results elucidate further the molecular mechanisms underlying the altered functions of mutants of this zinc finger transcription factor and their role in causing this developmental anomaly. No mutations were identified in patients with isolated hypoparathyroidism, thereby indicating that GATA3 abnormalities are more likely to result in two or more of the phenotypic features of the HDR syndrome and not in one, such as isolated hypoparathyroidism.
125 citations
TL;DR: From images obtained on disks of different sizes in a range of magnetic fields, the evolution of vortex states was traced and stable and metastable configurations of interacting vortices were identified.
Abstract: We have studied vortex configurations in mesoscopic superconducting disks using the Bitter decoration technique. For a broad range of vorticities $L$ the circular geometry is found to lead to the formation of concentric shells of vortices. From images obtained on disks of different sizes in a range of magnetic fields we traced the evolution of vortex states and identified stable and metastable configurations of interacting vortices. Furthermore, the analysis of shell filling with increasing $L$ allowed us to identify magic numbers corresponding to the appearance of consecutive new shells.
111 citations
TL;DR: In this article, the authors describe probes of a local electric field, which are capable of detecting an electric charge as small as the charge of one electron e, operational under ambient conditions and having a spatial resolution down to 100nm.
Abstract: We describe probes of a local electric field, which are capable of detecting an electric charge as small as the charge of one electron e, operational under ambient conditions and having a spatial resolution down to 100nm. The submicron-sized probes were made from a high-density high-mobility two-dimensional electron gas, which is sensitive to the presence of electric charges near its surface. We demonstrate the possibility of using such microprobes for life-science applications by measuring an electric response of individual yeast cells to abrupt changes in their environment.
79 citations