Browse
Submit Data
Databases
API
Help

Dataset Information

18 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Caffey disease: new perspectives on old questions.

ABSTRACT: The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the ?1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Importantly, it remains to be established as to how a point-mutation in type I collagen leads to a cascade of inflammatory events and spatio-temporally limited hyperostotic bone lesions, and how structural and inflammatory components contribute to the different organ-specific manifestations in Caffey disease. In this review we attempt to shed light on these questions based on the current understanding of other mutations in type I collagen, their role in perturbing collagen biogenesis, and consequent effects on cell-cell and cell-matrix interactions.

SUBMITTER: Nistala H

PROVIDER: S-EPMC3987944 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Caffey disease: new perspectives on old questions.

Nistala Harikiran H Mäkitie Outi O Jüppner Harald H

Bone 20131231

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Importantly, it remains to be established as to how a point-mutation ...[more]

PMID: 24389367

Similar Datasets

Human fatty liver disease: old questions and new insights.

Project description:Nonalcoholic fatty liver disease (NAFLD) is a burgeoning health problem that affects one-third of adults and an increasing number of children in developed countries. The disease begins with the aberrant accumulation of triglyceride in the liver, which in some individuals elicits an inflammatory response that can progress to cirrhosis and liver cancer. Although NAFLD is strongly associated with obesity and insulin resistance, its pathogenesis remains poorly understood, and therapeutic options are limited. Here, we discuss recent mechanistic insights into NAFLD, focusing primarily on those that have emerged from human genetic and metabolic studies.

| S-EPMC3229276 | biostudies-literature

Genome size evolution: towards new model systems for old questions.

Project description:Genome size (GS) variation is a fundamental biological characteristic; however, its evolutionary causes and consequences are the topic of ongoing debate. Whether GS is a neutral trait or one subject to selective pressures, and how strong these selective pressures are, may remain open questions. Fundamentally, the genomic sequences responsible for this variation directly impact the potential evolutionary outcomes and, equally, are the targets of different evolutionary pressures. For example, duplications and deletions of genic regions (large or small) can have immediate and drastic phenotypic effects, while an expansion or contraction of non-coding DNA is less likely to cause catastrophic phenotypic effects. However, in the long term, the accumulation or deletion of ncDNA is likely to have larger effects. Modern sequencing technologies are allowing for the dissection of these proximate causes, but a combination of these new technologies with more traditional evolutionary experiments and approaches could revolutionize this debate and potentially resolve many of these arguments. Here, I discuss an ambitious way forward for GS research, putting it in context of historical debates, theories and sometimes contradictory evidence, and highlighting the promise of combining new sequencing technologies and analytical developments with more traditional experimental evolution approaches.

| S-EPMC7482279 | biostudies-literature

Ancient DNA studies: new perspectives on old samples.

Project description:In spite of past controversies, the field of ancient DNA is now a reliable research area due to recent methodological improvements. A series of recent large-scale studies have revealed the true potential of ancient DNA samples to study the processes of evolution and to test models and assumptions commonly used to reconstruct patterns of evolution and to analyze population genetics and palaeoecological changes. Recent advances in DNA technologies, such as next-generation sequencing make it possible to recover DNA information from archaeological and paleontological remains allowing us to go back in time and study the genetic relationships between extinct organisms and their contemporary relatives. With the next-generation sequencing methodologies, DNA sequences can be retrieved even from samples (for example human remains) for which the technical pitfalls of classical methodologies required stringent criteria to guaranty the reliability of the results. In this paper, we review the methodologies applied to ancient DNA analysis and the perspectives that next-generation sequencing applications provide in this field.

| S-EPMC3390907 | biostudies-other

Caenorhabditis elegans in anthelmintic research - Old model, new perspectives.

Project description:For more than four decades, the free-living nematode Caenorhabditis elegans has been extensively used in anthelmintic research. Classic genetic screens and heterologous expression in the C. elegans model enormously contributed to the identification and characterization of molecular targets of all major anthelmintic drug classes. Although these findings provided substantial insights into common anthelmintic mechanisms, a breakthrough in the treatment and control of parasitic nematodes is still not in sight. Instead, we are facing increasing evidence that the enormous diversity within the phylum Nematoda cannot be recapitulated by any single free-living or parasitic species and the development of novel broad-spectrum anthelmintics is not be a simple goal. In the present review, we summarize certain milestones and challenges of the C. elegans model with focus on drug target identification, anthelmintic drug discovery and identification of resistance mechanisms. Furthermore, we present new perspectives and strategies on how current progress in C. elegans research will support future anthelmintic research.

| S-EPMC7704361 | biostudies-literature

Asking New Questions with Old Data: The Centralized Open-Access Rehabilitation Database for Stroke.

Project description:BACKGROUND:This paper introduces a tool for streamlining data integration in rehabilitation science, the Centralized Open-Access Rehabilitation database for Stroke (SCOAR), which allows researchers to quickly visualize relationships among variables, efficiently share data, generate hypotheses, and enhance clinical trial design. METHODS:Bibliographic databases were searched according to inclusion criteria leaving 2,892 titles that were further screened to 514 manuscripts to be screened by full text, leaving 215 randomized controlled trials (RCTs) in the database (489 independent groups representing 12,847 patients). Demographic, methodological, and statistical data were extracted by independent coders and entered into SCOAR. RESULTS:Trial data came from 114 locations in 27 different countries and represented patients with a wide range of ages, 62?year [41; 85] [shown as median (range)] and at various stages of recovery following their stroke, 141?days [1; 3372]. There was considerable variation in the dose of therapy that patients received, 20?h [0; 221], over interventions of different durations, 28?days [10; 365]. There was also a lack of common data elements (CDEs) across trials, but this lack of CDEs was most pronounced for baseline assessments of patient impairment and severity of stroke. CONCLUSION:Data integration across hundreds of RCTs allows clinicians and researchers to quickly visualize data from the history of the field and lays the foundation for making SCOAR a living database to which researchers can upload new data as trial results are published. SCOAR is a useful tool for clinicians and researchers that will facilitate data visualization, data sharing, the finding of relevant past studies, and the design of clinical trials by enabling more accurate and comprehensive power analyses. Furthermore, these data speak to the need for CDEs specific to stroke rehabilitation in randomized controlled trials. PROSPERO 2014:CRD42014009010.

| S-EPMC5028724 | biostudies-literature

Flecainide in Ventricular Arrhythmias: From Old Myths to New Perspectives.

Project description:Flecainide is an IC antiarrhythmic drug (AAD) that received in 1984 Food and Drug Administration approval for the treatment of sustained ventricular tachycardia (VT) and subsequently for rhythm control of atrial fibrillation (AF). Currently, flecainide is mainly employed for sinus rhythm maintenance in AF and the treatment of idiopathic ventricular arrhythmias (IVA) in absence of ischaemic and structural heart disease on the basis of CAST data. Recent studies enrolling patients with different structural heart diseases demonstrated good effectiveness and safety profile of flecainide. The purpose of this review is to assess current evidence for appropriate and safe use of flecainide, 30 years after CAST data, in the light of new diagnostic and therapeutic tools in the field of ischaemic and non-ischaemic heart disease.

| S-EPMC8397118 | biostudies-literature

Glutamate Receptors and Glioblastoma Multiforme: An Old "Route" for New Perspectives.

Project description:Glioblastoma multiforme (GBM) is the most aggressive malignant tumor of the central nervous system, with poor survival in both treated and untreated patients. Recent studies began to explain the molecular pathway, comprising the dynamic structural and mechanical changes involved in GBM. In this context, some studies showed that the human glioblastoma cells release high levels of glutamate, which regulates the proliferation and survival of neuronal progenitor cells. Considering that cancer cells possess properties in common with neural progenitor cells, it is likely that the functions of glutamate receptors may affect the growth of cancer cells and, therefore, open the road to new and more targeted therapies.

| S-EPMC6479730 | biostudies-literature

Rural and urban perspectives on growing old: developing a new research agenda.

Project description:Urban and rural themes have played an important part in European gerontological research. This paper analyses current issues in the field of urban and rural studies as applied to understanding old age. Both dimensions are being affected by population movements of different kinds, driven to a significant degree by globalisation in its various forms. The paper summarises trends underpinning rural and urban living and evidence regarding the impact of change in these areas on daily life in old age. The article considers a number of research agendas which would advance rural and urban studies of ageing, these combining developments in geography and urban studies with those in critical gerontology. The paper argues that a revitalised rural and urban gerontology will bring forward major new themes and issues for social gerontology in the 21st century.

| S-EPMC5547676 | biostudies-other

Toxoplasmosis: new challenges for an old disease.

Project description:More than a century after the identification of Toxoplasma gondii, major issues need to be addressed for the optimal management of ocular disease. Toxoplasmic retinochoroiditis is the main cause of posterior uveitis in several geographical areas. The parasite establishes a love-hate relationship with the eye, manipulating the immune response and inducing variable initial lesions and further relapses. It is now well established that most cases are acquired after birth and not congenital. The severity of the disease is mainly due to the parasite genotype and the host immune status. Diagnosis is based on clinical features, but may be confirmed by biological tools applied to ocular fluids. Combining several techniques improves the diagnostic yield in equivocal cases. Therapeutic management is the most important challenge. Even though evidence-based data on the efficacy of anti-parasitic drugs are still missing, new strategies with a good safety profile are available and may be proposed earlier during the course of the disease, but also in selected cases, to reduce sight-threatening relapses. Revisiting the therapeutic options and indications may be an important step towards long-term maintenance of the visual function and avoidance of major complications.

| S-EPMC3272217 | biostudies-other

Revising PTEN in the Era of Immunotherapy: New Perspectives for an Old Story.

Project description:Immunotherapy has emerged as the new therapeutic frontier of cancer treatment, showing enormous survival benefits in multiple tumor diseases. Although undeniable success has been observed in clinical trials, not all patients respond to treatment. Different concurrent conditions can attenuate or completely abrogate the usefulness of immunotherapy due to the activation of several escape mechanisms. Indeed, the tumor microenvironment has an almost full immunosuppressive profile, creating an obstacle to therapeutic treatment. Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) governs a plethora of cellular processes, including maintenance of genomic stability, cell survival/apoptosis, migration, and metabolism. The repertoire of PTEN functions has recently been expanded to include regulation of the tumor microenvironment and immune system, leading to a drastic reevaluation of the canonical paradigm of PTEN action with new potential implications for immunotherapy-based approaches. Understanding the implication of PTEN in cancer immunoediting and immune evasion is crucial to develop new cancer intervention strategies. Recent evidence has shown a double context-dependent role of PTEN in anticancer immunity. Here we summarize the current knowledge of PTEN's role at a crossroads between tumor and immune compartments, highlighting the most recent findings that are likely to change future clinical practice.

| S-EPMC6826982 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data