Search results for "Pathway"
showing 10 items of 1685 documents
Reconstitution of the Complement Function in C1q-Deficient (C1qa−/−) Mice with Wild-Type Bone Marrow Cells
2001
Abstract Besides Ab-independent and Ab-dependent activation of the complement classical pathway in host defense, C1q plays a key role in the processing of immune complexes and in the clearance of apoptotic cells. In humans, C1q deficiency leads to systemic lupus erythematosus-like symptoms in over 90% of the cases, thus making this defect a strong disease susceptibility factor. Similarly, C1q-deficient mice (C1qa−/−) develop systemic lupus erythematosus-like symptoms, such as autoantibodies and glomerulonephritis. We have previously provided evidence that C1q is produced by cells of the monocyte-macrophage lineage. In this study, we have tested whether transplantation of bone marrow cells w…
UNC-52/perlecan affects gonadal leader cell migrations in C. elegans hermaphrodites through alterations in growth factor signaling.
2003
0012-1606 doi: DOI: 10.1016/S0012-1606(03)00014-9; The unc-52 gene of Claenorhabditis elegans encodes a homologue of the basement membrane heparan sulfate proteoglycan perlecan. Viable alleles reduce the abundance of UNC-52 in late larval stages and increase the frequency of distal tip cell (DTC) migration defects caused by mutations disrupting the UNC-6/netrin guidance system. These unc-52 alleles do not cause circumferential DTC migration defects in an otherwise wild-type genetic background. The effects of unc-52 mutations on DTC migrations are distinct from effects on myofilament organization and can be partially suppressed by mutations in several genes encoding growth factor-like molecu…
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
2020
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…
DNA Methylation in Inflammatory Pathways Modifies the Association between BMI and Adult-Onset Non-Atopic Asthma
2019
A high body mass (BMI) index has repeatedly been associated with non-atopic asthma, but the biological mechanism linking obesity to asthma is still poorly understood. We aimed to test the hypothesis that inflammation and/or innate immunity plays a role in the obesity-asthma link. DNA methylome was measured in blood samples of 61 non-atopic participants with asthma and 146 non-atopic participants without asthma (non-smokers for at least 10 years) taking part in the Swiss Cohort Study on Air Pollution and Lung and Heart Diseases in Adults (SAPALDIA) study. Modification by DNA methylation of the association of BMI or BMI change over 10 years with adult-onset asthma was examined at each CpG sit…
DSM-IV Combined Type ADHD Shows Familial Association With Sibling Trait Scores
2008
Contains fulltext : 69060.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a discrete clinical syndrome characterized by the triad of inattention, hyperactivity, and impulsivity in the context of marked impairments. Molecular genetic studies have been successful in identifying genetic variants associated with ADHD, particularly with DSM-IV inattentive and combined subtypes. Quantitative trait locus (QTL) approaches to linkage and association mapping have yet to be widely used in ADHD research, although twin studies investigating individual differences suggest that genetic liability for ADHD is continuously distributed throughout the population, u…
Components and connections of the circadian timing system in mammals
1996
The circadian timing system is a neural network consisting of the hypothalamic suprachiasmatic nucleus, aided by the retina, other hypothalamic nuclei, autonomic regions of the spinal cord, sympathetic ganglia and the pineal gland. Extensive studies conducted over the last two decades have unravelled the principal items of its functional neuroanatomy. The system is responsible for the generation of the circadian rhythm, its synchronization by environmental factors such as light, and its mediation with respect to morphological, physiological and biochemical parameters of mammals that exhibit distinct alterations throughout the 24-h cycle. This review characterizes the brain sites involved an…
Internationalization pathways among family-owned SMEs
2012
PurposeThe purpose of this paper is to increase understanding of the internationalization of family firms; to investigate how the framework by Bell et al. on the internationalization patterns of firms could explain the internationalization pathways taken by family‐owned small to medium‐sized enterprises (SMEs); and to identify typical patterns and features in the various pathways taken by family‐owned SMEs.Design/methodology/approachThis paper reports findings from an in‐depth multiple case study with eight Finnish family‐owned SMEs.FindingsThe ownership structure had the most important role in defining the internationalization pathways followed by the family‐owned SMEs: a fragmented owners…
Detection performance of normal cats and those lacking areas 17 and 18: a behavioral approach to analyse pattern recognition deficits.
1986
The ability of cats to discriminate between two geometrical outline patterns in the presence of superimposed Gaussian visual noise was tested before and after bilateral removal of cortical area 17 and parts of area 18. The detection probability PD was measured as a function of the signal-to-noise ratio for the parameters: noise bandwidth, spatial frequency content and rate of movement of patterns. In both normal and lesioned cats a broadband noise was found to be most effective in masking the large patterns while two other types of noise, a medium frequency noise and a high frequency noise had little or no masking effect. For recognition of the smaller patterns in normal cats the medium fre…
Exploiting Reaction-Diffusion Conditions to Trigger Pathway Complexity in the Growth of a MOF.
2021
Coordination polymers (CPs), including metal–organic frameworks (MOFs), are crystalline materials with promising applications in electronics, magnetism, catalysis, and gas storage/separation. However, the mechanisms and pathways underlying their formation remain largely undisclosed. Herein, we demonstrate that diffusion-controlled mixing of reagents at the very early stages of the crystallization process (i.e., within ≈40 ms), achieved by using continuous-flow microfluidic devices, can be used to enable novel crystallization pathways of a prototypical spin-crossover MOF towards its thermodynamic product. In particular, two distinct and unprecedented nucleation-growth pathways were experimen…
Perceived major experiences of discrimination, ethnic group, and risk of psychosis in a six-country case-control study
2021
AbstractBackgroundPerceived discrimination is associated with worse mental health. Few studies have assessed whether perceived discrimination (i) is associated with the risk of psychotic disorders and (ii) contributes to an increased risk among minority ethnic groups relative to the ethnic majority.MethodsWe used data from the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions Work Package 2, a population-based case−control study of incident psychotic disorders in 17 catchment sites across six countries. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) for the associations between perceived discrimination and psychosis using mixed-…