56 research outputs found
Direct current control of three magnon scattering processes in spin-valve nanocontacts
We have investigated the generation of spin waves in the free layer of an
extended spin-valve structure with a nano-scaled point contact driven by both
microwave and direct electric current using Brillouin light scattering
microscopy. Simultaneously with the directly excited spin waves, strong
nonlinear effects are observed, namely the generation of eigenmodes with
integer multiple frequencies (2 \emph{f}, 3 \emph{f}, 4 \emph{f}) and modes
with non-integer factors (0.5 \emph{f}, 1.5 \emph{f}) with respect to the
excitation frequency \emph{f}. The origin of these nonlinear modes is traced
back to three magnon scattering processes. The direct current influence on the
generation of the fundamental mode at frequency \emph{f} can be related to the
spin-transfer torque, while the efficiency of three-magnon-scattering processes
is controlled by the Oersted field as an additional effect of the direct
current
Temporal behavior of the inverse spin Hall voltage in a magnetic insulator-nonmagnetic metal structure
It is demonstrated that upon pulsed microwave excitation, the temporal
behavior of a spin-wave induced inverse spin Hall voltage in a magnetic
insulator-nonmagnetic metal structure is distinctly different from the temporal
evolution of the directly excited spin-wave mode from which it originates. The
difference in temporal behavior is attributed to the excitation of long-lived
secondary spin-wave modes localized at the insulator-metal interface
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder
Right drug, right patient, right time: aspiration or future promise for biologics in rheumatoid arthritis?
Individualising biologic disease-modifying anti-rheumatic drugs (bDMARDs) to maximise outcomes and deliver safe and cost-effective care is a key goal in the management of rheumatoid arthritis (RA). Investigation to identify predictive tools of bDMARD response is a highly active and prolific area of research. In addition to clinical phenotyping, cellular and molecular characterisation of synovial tissue and blood in patients with RA, using different technologies, can facilitate predictive testing. This narrative review will summarise the literature for the available bDMARD classes and focus on where progress has been made. We will also look ahead and consider the increasing use of ‘omics’ technologies, the potential they hold as well as the challenges, and what is needed in the future to fully realise our ambition of personalised bDMARD treatment
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe
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