bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epidemiology of Plant Disease
Authors: Jeger Michael J 
Published: March 2009

Abstract

Epidemiology is the science of disease in populations, in this article plant populations. It is a quantitative discipline with strong conceptual foundations and practical applications. Epidemics of plant diseases have had major impacts on agricultural and horticultural crops and on forest‐tree populations with major socio‐economic and political consequences. An epidemiological tool‐kit includes methodologies for analysing disease progress in time and space, the derivation of key parameters determining the rate of epidemic progress, and the extent of control required for disease management. The complexity of biotic interactions affecting plant epidemics is shown by introducing genetic variation in host and pathogen, the role of disease vectors in transmission, and higher level interactions involved in biological control. The importance of disease in wild plant communities is assessed. With the increased recognition of the landscape connectedness of crop plants, natural communities and invasive species, some additions to the epidemiological tool‐kit are proposed.

Key concepts

Infection cycle: The components of the pathogen life cycle in a host population. For a fungal pathogen this would include the sequence infection, colonization, sporulation and dispersal (to a new host, completing the cycle).

Integrated disease control: The use of different methods of disease control – chemical, cultural, biological and host resistance – within a decision‐based approach to disease management.

Disease triangle: A recognition that a disease (epidemic) is a consequence of the interaction of a virulent pathogen population with a susceptible host population in a conducive (biotic and abiotic) environment. With plant virus diseases the ‘triangle’ is often extended to include explicity the vector.

Basic reproductive number: The number of secondary infected units (plants, plant parts) caused by the introduction of one infectious unit into a susceptible host population, curing that unit's period of infectiousness.

Intraspecific diversity: Genetic variation occurring within a plant host and/or pathogen population; such variation can determine the level of compatibility in a host–pathogen interaction as expressed in gene‐for‐gene recognition systems. It is used in disease control strategies based on multilines and varietal mixtures.

Evolutionary epidemiology: An attempt to integrate population genetic and population dynamic approaches in epidemiology so that the evolutionary dynamics of plant pathogen populations can be studied and managed.

Landscape epidemiology: A recognition that plant disease epidemics occur at the landscape scale, and are influenced by aspects of the wider environment including features such as topography, watersheds, human activity and the conjunction of cropland and semi‐natural vegetation.
Metabolic Effects of Caloric Restriction
Authors: Baur Joseph A 
Published: March 2009

Abstract

Caloric restriction (CR) improves health and increases longevity in organisms from yeast to mammals. Studies in rodent models show that CR suppresses a wide range of diseases that contribute to human morbidity and mortality such as cancer, cardiovascular disease and diabetes. Although the metabolic and physiological changes induced by CR have been investigated for over 70 years, the precise mechanism by which it is able to slow the progression of age‐related degeneration remains a subject of much debate. This article summarizes our current understanding, including recent findings that implicate specific enzymes and signalling pathways in the process. Further study of CR may provide insight into the nature of aging and reveal new opportunities to improve the quality and quantity of human life.

Key concepts

Reducing energy intake in the absence of malnutrition (caloric restriction) improves health and extends longevity.

Caloric restriction causes widespread changes in physiology and metabolism, many of which are distinct from fasting responses.

Manipulation of specific genetic pathways can block or mimic some responses to caloric restriction.

Insulin/IGF‐1 signalling is consistently implicated in the mechanism of caloric restriction.

Neither aging nor its retardation by caloric restriction is understood, however much of the available data is compatible with the Free Radical Hypothesis.
Energy Balance, Obesity and Type‐2 Diabetes
Authors: Daniel Lane M 
Published: March 2009

AbstractEnergy balance is determined by caloric intake versus caloric expenditure. Complex control systems promote energy storage (primarily as adipose tissue fat) during periods of food surplus and mobilization of energy stores when food is scarce. These regulatory systems operate both locally within cells and between different body tissues and are mediated by circulating hormones and direct neural connection from the central nervous system to peripheral tissues. In modern society where lifestyles have shifted towards the excessive consumption of palatable ‘high energy’ foods and a sedentary life, these control mechanisms can be circumvented and in so doing lead to obesity and its pathological consequences. Prominent among these consequences are insulin resistance, i.e. the inability of cells to respond normally to insulin, and Type‐2 diabetes. Approximately 30% of the inhabitants of the United States meet the criteria for obesity.Key conceptsAnimals possess complex control systems with which to regulate energy storage and expenditure.The concept of energy balance.How is blood glucose level regulated?How do changes in blood glucose level alter the secretion of hormones that regulate energy metabolism?What are the major physiological fuels that provide energy for different cell types and how do changes in hormone level affect fuel production and utilization?Nature of interplay between tissues/organs through the production and utilization of circulating physiological fuels.What is insulin resistance and what are its consequences?What constitutes the obese state and how does obesity lead to insulin resistance and Type‐2 diabetes?how adipocytes develop from stem cells and the consequences of adipocyte hyperplasia.How does persistent obesity lead to failure of the insulin‐secreting pancreatic β‐cell and the diabetic state?
Neuroeconomics
Authors: Hart Andrew S , Walton Mark E , Phillips Paul EM 
Published: March 2009

Abstract

Neuroeconomics is an emergent multidisciplinary field that strives to understand how and why humans make decisions. It brings together behavioural methods and sophisticated computational theories from microeconomics, an understanding of emotional influences on behaviour from psychology, and human functional neural imaging and electrophysiological recordings in animal models from neuroscience. Moreover, the neuroscientific contribution to this field is now beginning to incorporate molecular, pharmacological and physical interference techniques which can test the causal relationship between neural function and behaviour. Research in neuroeconomics has uncovered potential representations of value and costs within the brain. Studies of decision‐making in social environments have also revealed key emotional components of decision‐making that may help to explain some deviations from optimal or rational decision‐making in humans. Although it still has many challenges to overcome, neuroeconomics stands poised to benefit both microeconomic theory and neuroscience through shared techniques and ideas.

Key concepts

Psychology, neuroscience and economics existed as parallel fields, with the goal of understanding decision‐making behaviour.

Neuroeconomics is an emergent field that uses brain‐imaging techniques and animal models from cognitive neuroscience and computational models and behavioural experiments from economics.

A major goal of neuroeconomics is to determine how value is represented within the brain and how this representation is used towards decision‐making.

Animal studies involving primary rewards, such as food and water have given the first clues as to the representation of value within the brain, and human studies of primary and monetary rewards have made similar findings.

A second goal of neuroeconomics is to determine how costs, such as monetary payments, effort and delays in reward, are represented within the brain.

A subfield of neuroeconomics is devoted to the study of social decision‐making and incorporates concepts from game theory.

There may be multiple neural systems that dictate rational versus emotion‐based decisions, but more evidence is needed.

Neuroeconomics can be applied to the study of psychiatric disorders and addiction, in which the brain's mechanisms for representing value are disrupted.
Coffin–Lowry Syndrome
Authors: Hanauer André 
Published: March 2009

Abstract

The Coffin–Lowry syndrome (CLS) is a rare but well‐defined X‐linked semidominant syndrome. Cardinal features include severe mental retardation, a characteristic facial appearance, digital tapering, short stature and progressive spinal deformity. However, the clinical presentation may be markedly variable both in severity and in the expression of uncommonly associated features. In addition, a few atypical cases of the disease have been reported. Highly heterogeneous loss of function mutations in the

RPS6KA3

gene encoding the
protein kinase RSK2
are responsible for CLS. About two‐thirds of the mutations arise

de novo

.

RSK2 is a member of the
ribosomal S6 serine/threonine kinase
family, which plays a key role in the Ras‐ERK signalling pathway. RSKs are activated by phosphorylation in response to growth factors and neurotransmitters.
RSK2
substrates include transcription factors, in accordance with a major role in regulation of gene expression.
RSK2
is involved in proliferation, apoptosis and in learning and memory processes.

Key concepts

Coffin–Lowry syndrome is an X‐linked semidominant syndrome characterized typically by severe psychomotor and growth retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations.

The estimated incidence is 1 50 000–1 100 000 and approximately 70–80% of patients are sporadic cases.

There is no specific treatment.

Highly heterogeneous loss‐of‐function mutations in the
RPS6KA3
gene, encoding RSK2, are responsible for Coffin–Lowry syndrome.

Two‐thirds of cases arise from new mutations.

There is no consistent phenotype/genotype correlation.

RSK2 is a serine/threonine kinase that acts at the distal end of the Ras‐ERK pathway and is activated by phosphorylation in response to growth factors and neurotransmitters.

Mice models for CLS have been generated that exhibit delayed bone formation as well as learning and memory deficits.
Noncoding
RNAs
in Biology and Disease
Authors: Szymański Maciej , Barciszewski Jan 
Published: March 2009

Abstract

Regulatory noncoding
ribonucleic acids
(ncRNAs) play a pivotal role in the control of gene expression in all organisms. The molecular processes controlled by ncRNAs include virtually all steps of transmission of genetic information from
deoxyribonucleic acid
(DNA) to protein. They affect the structure of chromatin, activity of transcription factors, posttranscriptional modifications and the stabilty of RNA. In mammals, noncoding transcripts have been linked to regulation of many cellular mechanisms and their proper expression is crucial for normal development, growth differentiation and the maintenance of cells identity. Epigenetic and genetic aberrations disrupting ncRNA genes or changing their expression profiles often result in pathologies including developmental defects, neurobehavioural illness, cancer and other diseases. The progress in identification of novel RNA‐dependent molecular mechanisms and their medical implications makes ncRNAs attractive targets for development of new diagnostic and therapeutic approaches.

Key Concepts

Noncoding RNAs (ncRNAs) constitute a significant fraction of a total transcription from the human genome.

NcRNAs are key factors in setting up and maintaining epigenetic marks that are crucial for correct expression of genetic information.

NcRNAs regulate expression of genes by influencing the activity of transcriptional machinery.

The stability and translation of numerous mRNAs involved in cells growth and proliferation is controlled by microRNAs.

Correct expression of imprinted gene clusters depends on chromatin modifications guided by ncRNAs.

Aberrant expression of ncRNAs is often associated with human diseases.

Expression profiles of ncRNAs provide valuable information for molecular diagnostics.
Fragile Sites and Human Disease
Authors: Frank Kooy R 
Published: March 2009

Abstract

Fragile sites are the cytogenetic manifestation of a peculiar genome structure. Two fundamentally different types occur: rare fragile sites that are characterized by repeat expansion and common fragile sites that consist of AT (adenine/thymidine)‐rich regions which may stretch over megabases and that are prone to chromosomal rearrangements. In contrast to common fragile sites that are presumably present in all individuals, rare fragile sites are found in maximally 5% of the population. A relationship between the rare fragile site at Xq27.3 and fragile X syndrome, the most common form of inherited mental retardation has been well established. In addition, causative genomic rearrangements within the two most frequently observed common fragile sites in specific tumours were demonstrated. Currently, more than 100 different fragile sites have been described and a potential role for additional fragile sites in human disease, including mental retardation, neurodegeneration, cancer and chromosome truncation syndromes, is emerging.

Key concepts

Fragile sites are the cytogenetic expression of a peculiar genome architecture.

Rare fragile sites are caused by repeat expansion.

Common fragile sites consist of large genomic AT‐rich ‘flexible’ regions, without repeat expansion.

Rare fragile sites may be associated with mental retardation and neurodegeneration.

Common fragile sites are associated with chromosomal rearrangements in tumour cells.

Fragile sites may be involved in chromosome breakage.
Molecular Genetics of Hereditary Vascular Malformations
Authors: Aerts Virginie , Boon Laurence M , Vikkula Miikka 
Published: March 2009

Abstract

Vascular anomalies are divided into vascular tumours (mainly infantile haemangiomas) and vascular malformations. Vascular malformations are subdivided following the type of vessel affected: venous, capillary, arteriovenous and lymphatic. In addition to the pure forms, combined lesions are frequently encountered. Most of these malformations are sporadic, i.e. there is no family history, but familial cases, transmitted as an autosomal dominant or recessive trait, exist. During the last 10 years, the identification of disease‐causing genes implicated in the
familial
forms have resulted in a better classification of vascular anomalies, which has helped in assessment of treatment efficacy. These data have also unravelled the physiological role of the identified proteins during human vascular development.

Key concepts

Classification of vascular tumours and vascular malformations.

Vascular malformations are developmental anomalies.

Vascular malformations are classified depending on the affected vessels to capillary, venous, arterial, lymphatic or combined.

Sporadic and familial forms exist. Familial cases are often transmitted as an autosomal dominant disorder.

Several causative genes have been identified.
Molecular Genetics of Inherited Disorders of Epidermal Keratins
Authors: Sprecher Eli 
Published: March 2009

Abstract

Keratins
are a major constituent of the epidermal cell cytoskeleton. Apart from their contribution to cell ability to resist mechanical stress, they have been shown to regulate additional biological processes of importance such as protein synthesis, cell migration and apoptosis. Much of this knowledge has been gained through the study of rare disorders, known as keratinopathies, which are caused by mutations in genes encoding the various epidermal
keratins
. Recently, novel therapeutic approaches for
keratin
disorders have been tested successfully, thus raising new hopes for the treatment of this group of inherited skin diseases.

Key concepts

Keratins
are major constituent of epithelial cell cytoskeleton and confer to the cell the ability to resist mechanical stress.

Keratins
play additional nonstructural role such regulation of cell growth, protein synthesis, cell migration and apoptosis.

Keratin
disorders manifest with clinical and pathological features that reflect the site of expression of the mutant keratins and the specific function of the keratin domain affected by the causative mutation.

Keratin disorders are characterized by genetic heterogeneity, namely a single clinical phenotype can result from mutations in different (but sometimes functionally related) genes (e.g. epidermolysis bullosa caused by mutations in at least five genes).

Keratin disorders are characterized by phenotypic heterogeneity, namely mutations in the very same gene can give rise to multiple distinct phenotypes (e.g. mutations in
KRT1
can cause at least four distinct diseases).

Keratin mutations exert a dominant negative effect; hence current approaches are aimed at eliminating the mutant proteins from the skin. Based on this concept, a first clinical trial in humans has recently been launched to test the effect of a siRNA to treat pachyonychia congenita.
Molecular Genetics of Dyslexia
Authors: Paracchini Silvia 
Published: March 2009

Abstract

Dyslexia is a specific impairment in learning to read which affects 5–10% of school‐age children. Family and twin studies have shown that dyslexia is caused in large part by genetic factors. Dyslexia is most likely the result of the interplay of multiple genetic and environmental factors. Recently, several genes have been proposed as candidates for dyslexia susceptibility, including

DYX1C1

on chromosome 15,

KIAA0319

and

DCDC2

on chromosome 6,

ROBO1

on chromosome 3 and

MRPL19

and

C2ORF3

on chromosome 2. Interestingly, these genes share a putative role in brain development. No functional genetic variant has been identified for any of the genes but the study of their function offers for the first time new insights in the understanding of the biology of dyslexia and the mechanisms underlying cognition and brain function.

Key concepts

Several genes have recently been proposed as candidates for dyslexia susceptibility.

Most of these genes have shown association in independent samples of individuals with dyslexia.

A specific risk haplotype has been identified for the
KIAA0319
gene.

Most of the candidates have been implicated in brain development.

No functional mutations have been identified for any of the genes.

Gene expression has been proposed as the main mechanism linking genetic susceptibility to the development of dyslexia
Molecular Genetics of Chronic Pancreatitis
Authors: Szmola Richard , Whitcomb David C 
Published: March 2009

Abstract

Chronic pancreatitis is a progressive inflammatory condition of the pancreas that results in impairment of both exocrine and endocrine functions of the gland. The finding that a mutation in the cationic trypsinogen gene (

PRSS1

) causes hereditary pancreatitis was a major breakthrough that stimulated intensive research into the genetics of chronic pancreatitis. Further disease‐causing mutations were identified in the

PRSS1

gene, and mutations in novel genes (

SPINK1

,

CFTR

,

CTRC

,

CASR

) have been described in patients with idiopathic chronic pancreatitis. Genetic and biochemical studies highlighted the importance of the tightly regulated balance between trypsin activation and inactivation in the pathogenesis of pancreatitis.
Molecular Genetics of Crohn Disease
Authors: Yamamoto‐Furusho Jesús K 
Published: March 2009

Abstract

Genetic factors play a significant role in determining inflammatory bowel disease (IBD) susceptibility. Epidemiologic data support genetic contribution to the pathogenesis of IBD, which include familial aggregation, twin studies, racial and ethnic differences in disease prevalence. Genome‐wide linkage studies pointed towards more than 10 chromosomal regions and fine‐mapping of these regions led to the identification of a number of genes, including
CARD15
(
NOD2
, nucleotide oligomerization domain 2),

Drosophila

long disc homologue 5 gene (
DLG5
),
OCTN1
and 2,
TLR4
and
CARD4
(
NOD1
). New genes have identified such as
IL23R
, immunity‐related GTPase family M (
IRGM
), prostaglandin receptors E‐serie 4 (
PTGER4
) and
ATG16L1
for Crohn disease and ulcerative colitis. Genetic factors may influence in the clinical course of IBD patients and their likelihood of responding to certain therapies. Great progress in the understanding of the molecular genetics of IBD has been made over the last 10 years and newer genes are discovering to understand the IBD pathophysiology and to have implications for clinical practice.

Key concepts

Genetic factors play a significant role in determining inflammatory bowel disease susceptibility.

Characterization of the IBD1 locus on chromosome 16 led to the discovery of the NOD2/CARD15 gene as the first susceptibility gene in Crohn disease.

Genome‐wide linkage studies pointed towards more than 10 chromosomal regions.

Genetic factors may influence in the clinical course of IBD patients and their likelihood of responding to certain therapies.
A Review of the Epidemiology and the Mechanisms Underlying
KSHV
‐induced Malignancies
Authors: Alkharsah Khaled R , Schulz Thomas F , Weidner‐Glunde Magdalena M 
Published: March 2009

Abstract

Kaposi's sarcoma herpesvirus
(KSHV), also called
human herpesvirus‐8
(HHV‐8), is believed to be the infectious causative agent of Kaposi's sarcoma and two other rare acquired immune deficiency syndrome (AIDS)‐associated neoplastic diseases. KSHV is relatively frequent in some countries of the Mediterranean area, and quite common in sub‐Saharan and South Africa, but rare in most other parts of the world. The virus is transmitted through sexual contact among adults. However, in endemic countries, the mode of transmission is most probably via behavioural practices using saliva from mother to child and between siblings. KSHV persists in infected cells in a latent episomal form expressing only a small number of genes to escape immune surveillance. These genes play a significant role in viral persistence and development of malignancy. A small number of KSHV‐infected cells undergo spontaneous lytic reactivation to ensure the production of new virions and provide inflammatory cytokines that participate in development of cancer.

Key concepts:

KSHV is a γ2‐herpesvirus (Rhadinovirus) that causes Kaposi sarcoma, Primary effusion lymphoma and Multicentric Castleman's disease mainly in immunocompromised individuals, e.g. AIDS patients.

Similarly to the other herpesviruses KSHV has two phases of replication, latent and lytic.

In malignancies, the virus is detected mainly in latent state, where only few proteins are expressed.

Small number of infected cells undergo spontaneous lytic reactivation producing both, new virions for infecting new cells and inflammatory cytokines, which contribute to tumourigenesis through a paracrine mechanism.

KSHV expresses several genes that play a role in inhibition of apoptosis (vFLIP, vBCL2), progression of cell cycle (vCYC, LANA), stimulation of cytokine production and angiogenesis (vGPCR, vFLIP, vIL‐6, K15).

The prevalence of KSHV is low in most parts of the world, but higher in Mediterranean area and highest in Africa.

KSHV‐induced malignancies are rare even in areas with high KSHV prevalence.

KSHV is transmitted mainly by sexual contact among adults and via behavioural practices using saliva from mother to child and between siblings in endemic countries.