Search results for "names"
showing 10 items of 6843 documents
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and bra…
2016
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skeletal dysplasia and brachymesophalangia was explored. Homozygosity mapping and exome sequencing led to the identification of a homozygous mutation in IFT57, which encodes a protein implicated in ciliary transport. The mutation caused splicing anomalies with reduced expression of the wild-type transcript and protein. Both anterograde ciliary transport and sonic hedgehog signaling w…
Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
2016
Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four…
N-Linked Glycosylation of the p24 Family Protein p24δ5 Modulates Retrograde Golgi-to-ER Transport of K/HDEL Ligands in Arabidopsis
2017
Abstract The K/HDEL receptor ERD2 mediates the transport of soluble endoplasmic reticulum (ER)-resident proteins containing a C-terminal K/HDEL signal from the Golgi apparatus back to the ER via COPI (COat Protein I)-coated vesicles. Sorting of ERD2 within COPI vesicles is facilitated by p24 proteins. In Arabidopsis , p24δ5 has been shown to interact directly with ERD2 via its luminal GOLD (GOLgi Dynamics) domain and with COPI proteins via its cytoplasmic C-terminal tail at the acidic pH of the Golgi apparatus. Several members of the p24 family in mammals and yeast have been shown to be glycosylated, but whether Arabidopsis p24 proteins are glycosylated and the role of the sugar moiety in p…
Dynamical Features of the MAP Kinase Cascade
2017
The MAP kinase cascade is an important signal transduction system in molecular biology for which a lot of mathematical modelling has been done. This paper surveys what has been proved mathematically about the qualitative properties of solutions of the ordinary differential equations arising as models for this biological system. It focuses, in particular, on the issues of multistability and the existence of sustained oscillations. It also gives a concise introduction to the mathematical techniques used in this context, bifurcation theory and geometric singular perturbation theory, as they relate to these specific examples. In addition further directions are presented in which the application…
Effect of Food Thermal Processing on the Composition of the Gut Microbiota.
2018
Cooking modifies food composition due to chemical reactions. Additionally, food composition shapes the human gut microbiota. Thus, the objective of this research was to unravel the effect of different food cooking methods on the structure and functionality of the gut microbiota. Common culinary techniques were applied to five foods, which were submitted to in vitro digestion-fermentation. Furosine, 5-(hydroxymethyl)furfural, and furfural were used as Maillard reaction indicators to control the heat treatment. Short-chain fatty acids production was quantified as indicator of healthy metabolic output. Gut microbial community structure was analyzed through 16S rRNA. Both food composition and c…
Analysis of low-correlated spatial gene expression patterns: A clustering approach in the mouse brain data hosted in the Allen Brain Atlas
2018
The Allen Brain Atlas (ABA) provides a similar gene expression dataset by genome-scale mapping of the C57BL/6J mouse brain. In this study, the authors describe a method to extract the spatial information of gene expression patterns across a set of 1047 genes. The genes were chosen from among the 4104 genes having the lowest Pearson correlation coefficient used to compare the expression patterns across voxels in a single hemisphere for available coronal and sagittal volumes. The set of genes analysed in this study is the one discarded in the article by Bohland et al. , which was considered to be of a lower consistency, not a reliable dataset. Following a normalisation task with a global and …
On Switching between Motion and Force Control
2019
In motion control technologies, an automatic switching between trajectory following and set reference force, upon the impact, is a frequently encountered requirement. Despite both, motion and force controls, are something of well-understood and elaborated in the control theory and engineering practice, a reliable switching between them is not always self-evident. It can lead to undesired deadlocks, limit cycles, chattering around switching point and, as consequence, to wearing or damages in the controlled plant and its environment. This paper contributes to analysis and understanding of the autonomous switching from the motion to force control and vice versa. Simple output and state feedbac…
Hybrid Position/Force Control for Hydraulic Actuators
2020
In this paper a novel hybrid position/force control with autonomous switching between both control modes is introduced for hydraulic actuators. A hybrid position/force control structure with feed-forwarding, full-state feedback, including integral control error, pre-compensator of the deadzone, and low-pass filtering of the control value is designed. Controller gains are obtained via local linearization and pole placement accomplished separately for the position and force control. A hysteresis-based autonomous switching is integrated into the closed control loop, while multiple Lyapunov function based approach is applied for stability analysis of the entire hybrid control system. Experiment…
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
2017
Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
2018
Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…