Anticipation genetic. Medical search

The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

The ability to foresee what is likely to happen on the basis of past experience. It is largely a frontal lobe function.

An object or a situation that can serve to reinforce a response, to satisfy a motive, or to afford pleasure.

Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)

Signals for an action; that specific portion of a perceptual field or pattern of stimuli to which a subject has learned to respond.

Anxiety related to the execution of a task. (Campbell's Psychiatric Dictionary, 9th ed.)

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

Readiness to think or respond in a predetermined way when confronted with a problem or stimulus situation.

Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.

The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.

Those factors which cause an organism to behave or act in either a goal-seeking or satisfying manner. They may be influenced by physiological drives or by external stimuli.

The process by which PAIN is recognized and interpreted by the brain.

The time from the onset of a stimulus until a response is observed.

The coordination of a sensory or ideational (cognitive) process and a motor activity.

A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.

One of the convolutions on the medial surface of the CEREBRAL HEMISPHERES. It surrounds the rostral part of the brain and CORPUS CALLOSUM and forms part of the LIMBIC SYSTEM.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

The study of the physiological basis of human and animal behavior.

A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.

Cortical vigilance or readiness of tone, presumed to be in response to sensory stimulation via the reticular activating system.

Those affective states which can be experienced and have arousing and motivational properties.

Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.

Investigative technique commonly used during ELECTROENCEPHALOGRAPHY in which a series of bright light flashes or visual patterns are used to elicit brain activity.

Behavioral responses or sequences associated with eating including modes of feeding, rhythmic patterns of eating, and time intervals.

The loss of some TELOMERE sequence during DNA REPLICATION of the first several base pairs of a linear DNA molecule; or from DNA DAMAGE. Cells have various mechanisms to restore length (TELOMERE HOMEOSTASIS.) Telomere shortening is involved in the progression of CELL AGING.

Recognition and discrimination of the heaviness of a lifted object.

A change in electrical resistance of the skin, occurring in emotion and in certain other conditions.

Methods for visualizing REGIONAL BLOOD FLOW, metabolic, electrical, or other physiological activities in the CENTRAL NERVOUS SYSTEM using various imaging modalities.

Focusing on certain aspects of current experience to the exclusion of others. It is the act of heeding or taking notice or concentrating.

A negative shift of the cortical electrical potentials that increases over time. It is associated with an anticipated response to an expected stimulus and is an electrical event indicative of a state of readiness or expectancy.

The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.

An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

The rostral part of the frontal lobe, bounded by the inferior precentral fissure in humans, which receives projection fibers from the MEDIODORSAL NUCLEUS OF THE THALAMUS. The prefrontal cortex receives afferent fibers from numerous structures of the DIENCEPHALON; MESENCEPHALON; and LIMBIC SYSTEM as well as cortical afferents of visual, auditory, and somatic origin.

The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.

An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres.

A meshlike structure composed of interconnecting nerve cells that are separated at the synaptic junction or joined to one another by cytoplasmic processes. In invertebrates, for example, the nerve net allows nerve impulses to spread over a wide area of the net because synapses can pass information in any direction.

The behavior of performing an act persistently and repetitively without it leading to reward or pleasure. The act is usually a small, circumscribed behavior, almost ritualistic, yet not pathologically disturbing. Examples of compulsive behavior include twirling of hair, checking something constantly, not wanting pennies in change, straightening tilted pictures, etc.

A complex involuntary response to an unexpected strong stimulus usually auditory in nature.

The process of making a selective intellectual judgment when presented with several complex alternatives consisting of several variables, and usually defining a course of action or an idea.

Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

Brief closing of the eyelids by involuntary normal periodic closing, as a protective measure, or by voluntary action.

The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus.

The feeling-tone accompaniment of an idea or mental representation. It is the most direct psychic derivative of instinct and the psychic representative of the various bodily changes by means of which instincts manifest themselves.

Elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain.

Neural tracts connecting one part of the nervous system with another.

Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA).

Learned expectation that one's responses are independent of reward and, hence, do not predict or control the occurrence of rewards. Learned helplessness derives from a history, experimentally induced or naturally occurring, of having received punishment/aversive stimulation regardless of responses made. Such circumstances result in an impaired ability to learn. Used for human or animal populations. (APA, Thesaurus of Psychological Index Terms, 1994)

Moving or bringing something from a lower level to a higher one. The concept encompasses biomechanic stresses resulting from work done in transferring objects from one plane to another as well as the effects of varying techniques of patient handling and transfer.

Biological mechanism that controls CIRCADIAN RHYTHM. Circadian clocks exist in the simplest form in cyanobacteria and as more complex systems in fungi, plants, and animals. In humans the system includes photoresponsive RETINAL GANGLION CELLS and the SUPRACHIASMATIC NUCLEUS that acts as the central oscillator.

A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.

The time period of daily exposure that an organism receives from daylight or artificial light. It is believed that photoperiodic responses may affect the control of energy balance and thermoregulation.

Brain waves characterized by a relatively high voltage or amplitude and a frequency of 8-13 Hz. They constitute the majority of waves recorded by EEG registering the activity of the parietal and occipital lobes when the individual is awake, but relaxed with the eyes closed.

Collection of pleomorphic cells in the caudal part of the anterior horn of the LATERAL VENTRICLE, in the region of the OLFACTORY TUBERCLE, lying between the head of the CAUDATE NUCLEUS and the ANTERIOR PERFORATED SUBSTANCE. It is part of the so-called VENTRAL STRIATUM, a composite structure considered part of the BASAL GANGLIA.

The act of making a selection among two or more alternatives, usually after a period of deliberation.

The detailed examination of observable activity or behavior associated with the execution or completion of a required function or unit of work.

A mechanism of information stimulus and response that may control subsequent behavior, cognition, perception, or performance. (From APA Thesaurus of Psychological Index Terms, 8th ed.)

Almond-shaped group of basal nuclei anterior to the INFERIOR HORN OF THE LATERAL VENTRICLE of the TEMPORAL LOBE. The amygdala is part of the limbic system.

Intellectual or mental process whereby an organism obtains knowledge.

The affective response to an actual current external danger which subsides with the elimination of the threatening condition.

Feeling or emotion of dread, apprehension, and impending disaster but not disabling as with ANXIETY DISORDERS.

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.

Conceptual functions or thinking in all its forms.

Those psychological characteristics which differentiate individuals from one another.

The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.

Voluntary activity without external compulsion.

The observable response an animal makes to any situation.

The internal individual struggle resulting from incompatible or opposing needs, drives, or external and internal demands. In group interactions, competitive or opposing action of incompatibles: antagonistic state or action (as of divergent ideas, interests, or persons). (from Merriam-Webster's Collegiate Dictionary, 10th ed)

The physiological mechanisms that govern the rhythmic occurrence of certain biochemical, physiological, and behavioral phenomena.

Striped GRAY MATTER and WHITE MATTER consisting of the NEOSTRIATUM and paleostriatum (GLOBUS PALLIDUS). It is located in front of and lateral to the THALAMUS in each cerebral hemisphere. The gray substance is made up of the CAUDATE NUCLEUS and the lentiform nucleus (the latter consisting of the GLOBUS PALLIDUS and PUTAMEN). The WHITE MATTER is the INTERNAL CAPSULE.

Recording of the changes in electric potential of muscle by means of surface or needle electrodes.

Male parents, human or animal.

Age of the biological father.

The observable response of a man or animal to a situation.

Elements of limited time intervals, contributing to particular results or situations.

Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.

An effect usually, but not necessarily, beneficial that is attributable to an expectation that the regimen will have an effect, i.e., the effect is due to the power of suggestion.

A response to a cue that is instrumental in avoiding a noxious experience.

Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.

Force exerted when gripping or grasping.

A set of forebrain structures common to all mammals that is defined functionally and anatomically. It is implicated in the higher integration of visceral, olfactory, and somatic information as well as homeostatic responses including fundamental survival behaviors (feeding, mating, emotion). For most authors, it includes the AMYGDALA; EPITHALAMUS; GYRUS CINGULI; hippocampal formation (see HIPPOCAMPUS); HYPOTHALAMUS; PARAHIPPOCAMPAL GYRUS; SEPTAL NUCLEI; anterior nuclear group of thalamus, and portions of the basal ganglia. (Parent, Carpenter's Human Neuroanatomy, 9th ed, p744; NeuroNames, http://rprcsgi.rprc.washington.edu/neuronames/index.html (September 2, 1998)).

Relatively permanent change in behavior that is the result of past experience or practice. The concept includes the acquisition of knowledge.

Usually refers to the use of mathematical models in the prediction of learning to perform tasks based on the theory of probability applied to responses; it may also refer to the frequency of occurrence of the responses observed in the particular study.

Use of sound to elicit a response in the nervous system.

Electrical responses recorded from nerve, muscle, SENSORY RECEPTOR, or area of the CENTRAL NERVOUS SYSTEM following stimulation. They range from less than a microvolt to several microvolts. The evoked potential can be auditory (EVOKED POTENTIALS, AUDITORY), somatosensory (EVOKED POTENTIALS, SOMATOSENSORY), visual (EVOKED POTENTIALS, VISUAL), or motor (EVOKED POTENTIALS, MOTOR), or other modalities that have been reported.

The physical activity of a human or an animal as a behavioral phenomenon.

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.

The principle that items experienced together enter into a connection, so that one tends to reinstate the other.

A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)

The largest and most lateral of the BASAL GANGLIA lying between the lateral medullary lamina of the GLOBUS PALLIDUS and the EXTERNAL CAPSULE. It is part of the neostriatum and forms part of the LENTIFORM NUCLEUS along with the GLOBUS PALLIDUS.

The ability to estimate periods of time lapsed or duration of time.

Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.

An act performed without delay, reflection, voluntary direction or obvious control in response to a stimulus.

Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.

Act of eliciting a response from a person or organism through physical contact.

The selecting and organizing of visual stimuli based on the individual's past experience.

The process of discovering or asserting an objective or intrinsic relation between two objects or concepts; a faculty or power that enables a person to make judgments; the process of bringing to light and asserting the implicit meaning of a concept; a critical evaluation of a person or situation.

Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.

Central gray matter surrounding the CEREBRAL AQUEDUCT in the MESENCEPHALON. Physiologically it is probably involved in RAGE reactions, the LORDOSIS REFLEX; FEEDING responses, bladder tonus, and pain.

An outbred strain of rats developed in 1915 by crossing several Wistar Institute white females with a wild gray male. Inbred strains have been derived from this original outbred strain, including Long-Evans cinnamon rats (RATS, INBRED LEC) and Otsuka-Long-Evans-Tokushima Fatty rats (RATS, INBRED OLETF), which are models for Wilson's disease and non-insulin dependent diabetes mellitus, respectively.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Upper central part of the cerebral hemisphere. It is located posterior to central sulcus, anterior to the OCCIPITAL LOBE, and superior to the TEMPORAL LOBES.

Learning that takes place when a conditioned stimulus is paired with an unconditioned stimulus.

Paired bodies containing mostly GRAY MATTER and forming part of the lateral wall of the THIRD VENTRICLE of the brain.

Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)

Communication through a system of conventional vocal symbols.

A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.

Eye movements that are slow, continuous, and conjugate and occur when a fixed object is moved slowly.

A DNA repair pathway involved in correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. Excinucleases recognize the BASE PAIR MISMATCH and cause a segment of polynucleotide chain to be excised from the daughter strand, thereby removing the mismatched base. (from Oxford Dictionary of Biochemistry and Molecular Biology, 2001)

Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.

Stress wherein emotional factors predominate.

The consumption of edible substances.

A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.

The withholding of food in a structured experimental situation.

Voluntary or reflex-controlled movements of the eye.

The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.

The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.

The ability to detect chemicals through gustatory receptors in the mouth, including those on the TONGUE; the PALATE; the PHARYNX; and the EPIGLOTTIS.

The process whereby auditory stimuli are selected, organized, and interpreted by the organism.

An individual having different alleles at one or more loci regarding a specific character.

Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory.

One of the catecholamine NEUROTRANSMITTERS in the brain. It is derived from TYROSINE and is the precursor to NOREPINEPHRINE and EPINEPHRINE. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of receptors (RECEPTORS, DOPAMINE) mediate its action.

Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.

Study of mental processes and behavior of schizophrenics.

Amount of stimulation required before the sensation of pain is experienced.

The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.

The strengthening of a conditioned response.

A general term referring to the learning of some particular response.

Learning situations in which the sequence responses of the subject are instrumental in producing reinforcement. When the correct response occurs, which involves the selection from among a repertoire of responses, the subject is immediately reinforced.

The awareness of the spatial properties of objects; includes physical space.

Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.

Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.

The real or apparent movement of objects through the visual field.

Theoretical representations that simulate the behavior or activity of the neurological system, processes or phenomena; includes the use of mathematical equations, computers, and other electronic equipment.

Motion of an object in which either one or more points on a line are fixed. It is also the motion of a particle about a fixed point. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)

An abrupt voluntary shift in ocular fixation from one point to another, as occurs in reading.

Female parents, human or animal.

Any deviation of results or inferences from the truth, or processes leading to such deviation. Bias can result from several sources: one-sided or systematic variations in measurement from the true value (systematic error); flaws in study design; deviation of inferences, interpretations, or analyses based on flawed data or data collection; etc. There is no sense of prejudice or subjectivity implied in the assessment of bias under these conditions.

Application of statistical procedures to analyze specific observed or assumed facts from a particular study.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The prediction or projection of the nature of future problems or existing conditions based upon the extrapolation or interpretation of existing scientific data or by the application of scientific methodology.

The clear, viscous fluid secreted by the SALIVARY GLANDS and mucous glands of the mouth. It contains MUCINS, water, organic salts, and ptylin.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

The science dealing with the correlation of the physical characteristics of a stimulus, e.g., frequency or intensity, with the response to the stimulus, in order to assess the psychologic factors involved in the relationship.

Mental processing of chromatic signals (COLOR VISION) from the eye by the VISUAL CORTEX where they are converted into symbolic representations. Color perception involves numerous neurons, and is influenced not only by the distribution of wavelengths from the viewed object, but also by its background color and brightness contrast at its boundary.

Mental process to visually perceive a critical number of facts (the pattern), such as characters, shapes, displays, or designs.

The main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

A species of the genus MACACA inhabiting India, China, and other parts of Asia. The species is used extensively in biomedical research and adapts very well to living with humans.

Undertaking a task involving a challenge for achievement or a desirable goal in which there is a lack of certainty or a fear of failure. It may also include the exhibiting of certain behaviors whose outcomes may present a risk to the individual or to those associated with him or her.

A social group consisting of parents or parent substitutes and children.

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. (1/46)

Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too. We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length. Genotyping for APOE was performed blind to clinical information. In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females. Such a sex difference in AO was not apparent for any of the other APOE genotypes. Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO. (+info)

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (2/46)

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat. (+info)

Why children with inflammatory bowel disease are diagnosed at a younger age than their affected parent. (3/46)

BACKGROUND: Genetic anticipation has been proposed to explain observed age differences at diagnosis of Crohn's disease in affected parents and offspring. AIMS: To compare affected parent-child pairs with Crohn's disease and ulcerative colitis with a control group of non-familial patients with inflammatory bowel disease (IBD) in order to quantify whether ascertainment bias could account for this effect. METHODS: 137 affected parent-child pairs from 96 families and 214 patients with sporadic IBD were studied. Age at onset of symptoms and diagnosis were ascertained by interview and disease confirmed from clinical records. RESULTS: Of the 137 affected parent-child pairs, 50 had Crohn's disease only, 51 had ulcerative colitis only, and in 36, one had Crohn's disease and the other ulcerative colitis. The median age of parents at diagnosis was 17.5 years older, 16 years older, and 18 years older in the Crohn's disease, ulcerative colitis, and mixed disease families respectively (p<0.001 in each case). These observed age differences were compatible with those predicted from the regression lines of years of birth against age at diagnosis for the non-familial IBD patients. No evidence was found for an effect of parental sex on age at diagnosis or disease extent in offspring. CONCLUSIONS: There was no evidence of genetic anticipation or genomic imprinting of age at diagnosis in this sample of IBD families. Ascertainment bias is responsible for the age differences at diagnosis between affected parents and children. (+info)

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (4/46)

Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative syndrome that is associated with a variety of movement disorders and neurobehavioral and cognitive manifestations. Despite numerous clinical, pathological, and biochemical investigations, its etiology remains unknown. We have identified a multigenerational family with dominantly inherited IBGC and, in 24 members of this family, performed a whole-genome scan using polymorphic microsatellite markers to identify the first chromosomal locus for this disorder (IBGC1). A maximum two-point LOD score of 3.37 was obtained at marker D14S1014, and a maximum multipoint LOD score of 4.95 was obtained between D14S75 and D14S306. The minimal haplotype shared by affected patients extended over a 17.1-cM region bounded by D14S70 and D14S66, which is potentially further narrowed to a 13.3-cM region by a recombination observed in a patient with probable affected status. The age at onset appeared to be decreasing by an average of >20 years with each transmission, which is consistent with genetic anticipation. (+info)

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (5/46)

Genetic anticipation, i.e. increasing disease severity and decreasing age of onset from one generation to the next, is observed in a number of diseases, including myotonic dystrophy type 1, Huntington's disease and several of the spinocerebellar ataxias. All of these disorders are associated with the expansion of a trinucleotide repeat and array length is positively correlated with disease severity and inversely correlated with the age of onset. The expanded repeat is highly unstable and continues to expand from one generation to the next, providing a molecular explanation for anticipation. Spinocerebellar ataxia type 7 (SCA7) is one of the latest additions to the list of triplet repeat diseases and is distinct from the other SCAs in that it is accompanied by retinal degeneration. Pedigree analyses have previously revealed that the SCA7 repeat is highly unstable and liable to expand, in particular when transmitted by a male. Surprisingly, though, an under-representation of male transmission has also been reported. We now demonstrate directly by single molecule analyses that the expanded repeat is extraordinarily unstable in the male germline and biased toward massive increases. Nearly all of the mutant sperm of two SCA7 males contain alleles that are so large that most of the affected offspring would at best have a severe infantile form of the disease. Indeed, the gross under-representation of such very large expanded alleles in patients suggests that a significant proportion of such alleles might be associated with embryonic lethality or dysfunctional sperm. (+info)

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. (6/46)

Major advances have been made in the understanding of autosomal dominant cerebellar ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine genes, six of which have been identified, involved in this clinically diverse group of disorders highlighted their great genetic heterogeneity. Evidence is now accumulating that, except for SCA8, the same molecular and physiopathological processes underlie these diseases and other neurodegenerative disorders sharing the same mutational basis, the expansion of a (CAG)n-polyglutamine coding sequence. The clinical overlap among the different genetic entities makes prediction of the molecular origin impossible in a single patient so that molecular characterisation is necessary. However, extended clinical and neuropathological comparisons have shown that each genetic entity has a characteristic constellation of signs and symptoms that are related to CAG repeat size and disease duration. The combined genetic and clinical information form the basis of a new classification that will aid better understanding of disease evolution, assure follow up and permit genetic counselling by the clinician. (+info)

Structural basis for triplet repeat disorders: a computational analysis. (7/46)

MOTIVATION: Over a dozen major degenerative disorders, including myotonic distrophy, Huntington's disease and fragile X syndrome, result from unstable expansions of particular trinucleotides. Remarkably, only some of all the possible triplets, namely CAG/CTG, CGG/CCG and GAA/TTC, have been associated with the known pathological expansions. This raises some basic questions at the DNA level. Why do particular triplets seem to be singled out? What is the mechanism for their expansion and how does it depend on the triplet itself? Could other triplets or longer repeats be involved in other diseases? RESULTS: Using several different computational models of DNA structure, we show that the triplets involved in the pathological repeats generally fall into extreme classes. Thus, CAG/CTG repeats are particularly flexible, whereas GCC, CGG and GAA repeats appear to display both flexible and rigid (but curved) characteristics depending on the method of analysis. The fact that (1) trinucleotide repeats often become increasingly unstable when they exceed a length of approximately 50 repeats, and (2) repeated 12-mers display a similar increase in instability above 13 repeats, together suggest that approximately 150 bp is a general threshold length for repeat instability. Since this is about the length of DNA wrapped up in a single nucleosome core particle, we speculate that chromatin structure may play an important role in the expansion mechanism. We furthermore suggest that expansion of a dodecamer repeat, which we predict to have very high flexibility, may play a role in the pathogenesis of the neurodegenerative disorder multiple system atrophy (MSA). CONTACT: [email protected], [email protected], [email protected], [email protected] (+info)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. (8/46)

The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK. Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have also been cases with intergenerational contractions of the repeat length, accompanied by apparent anticipation. In order to gain a better understanding of this intergenerational behaviour, we have obtained semen samples from six DM males and used single molecule analyses to compare the allele distributions present in their sperm and blood with those of their offspring. We have confirmed that the male germline mutational pathway is distinct from that of the soma, but the extent of variation is highly variable from one individual to another and not obviously correlated with progenitor allele length. Nonetheless, in all cases the alleles present in the father's sperm overlap with those observed in their offspring. These data also provide further indications that the interpretation of intergenerational transmissions by standard analyses is frequently compromised by the masking of germline differences by age-dependent somatic expansion in the parent. (+info)

Prior to the understanding of the genetic mechanism for anticipation, it was debated whether anticipation was a true biological ... anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic ... Genetic+anticipation at the US National Library of Medicine Medical Subject Headings (MeSH) (CS1 maint: multiple names: authors ... Fresko, I; M Soy; V Hamuryudan; S Yurdakul; Ş Yavuz; Z Tümerd; H Yazici (1998). "Genetic anticipation in Behçet's syndrome". ...

https://en.wikipedia.org/wiki/Anticipation_(genetics)

Referrals are made via genetic counsellors, GPs, other consultants or directly via email. The research team based in Liverpool ... doi:10.1016/S1542-3565(04)00013-8. McFaul, C D (2006-02-01). "Anticipation in familial pancreatic cancer". Gut. 55 (2): 252-258 ... It enabled discovery of several genetic characteristics causative for hereditary pancreatitis and familial pancreatic cancer. ... "Clinical and genetic characteristics of hereditary pancreatitis in Europe". Clinical Gastroenterology and Hepatology. 2 (3): ...

https://en.wikipedia.org/wiki/European_Registry_of_Hereditary_Pancreatitis_and_Pancreatic_Cancer

This falls under the category of genetic anticipation. Several types of SCA are characterized by repeat expansion of the ... In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. However, ... "The Orphan Genetic Disease Company: Bioblast Pharma Ltd. June 2016" (PDF). Bioblast Pharma Ltd. Retrieved 14 October 2017. ... Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait ...

https://en.wikipedia.org/wiki/Spinocerebellar_ataxia

It is stipulated that the phenotypic variation is a result of unlinked genetic modifiers. Anticipation Pleiotropy Mendelian ... Neurofibromatosis (NF1), also known as Von Recklinghausen disease, is a genetic disorder that is caused by a mutation in the ... 2000). "Penetrance and expressivity". An Introduction to Genetic Analysi (7th ed.). New York: W. H. Freeman. ISBN 978-0-7167- ... Marian AJ, Roberts R (April 2001). "The molecular genetic basis for hypertrophic cardiomyopathy". Journal of Molecular and ...

https://en.wikipedia.org/wiki/Expressivity_(genetics)

It is possible that genetic anticipation may exist for this mutation. However, only 1 in 4 families exhibited significant ... Genetic counseling is recommended for the patients before a genetic test is ordered. C9ORF72 is predicted to be a full-length ... No genetic evidence for this has yet been demonstrated for this mutation. There is also a demographic factor that should be ... The mutations in C9orf72 are significant because it is the first pathogenic mechanism identified to be a genetic link between ...

https://en.wikipedia.org/wiki/C9orf72

The first documentation of anticipation in genetic disorders was in the 1800s. However, from the eyes of geneticists, this ... have provided an explanation as to why certain genetic diseases caused by repeats in the code are "genetic time-bombs" whose ... Warren, S.T. Oostra, B.A. Nelson, D.L. Caskey, C.T. Variation of the CGG repeat at the fragile X site results in genetic ... Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995; 57 ...

https://en.wikipedia.org/wiki/Trinucleotide_repeat_expansion

This work led to the discovery of underlying molecular mechanism for genetic anticipation. Following this work, she cloned the ... Together, these discoveries characterized the molecular basis of genetic "anticipation," the phenomenon of worsening severity ... 1991). "Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox". ... gene responsible for Myotonic dystrophy based on the hypothesis that genetic anticipation in Myotonic dystrophy is also caused ...

https://en.wikipedia.org/wiki/Ying-Hui_Fu

Demographic and genetic research of the appropriate population structure in Bosnia and Herzegovina have a relatively long ... anticipation, transmission". Neurol. Croat. 42 (1): 39-45.{{cite journal}}: CS1 maint: uses authors parameter (link) Šalamon T ... After the successful realization of the first strategic goal of ANUBiH in the development of genetic and biotechnological ... Thanks to mostly individual, and less often organized institutional research, the genetic structure of B&H local populations ...

https://en.wikipedia.org/wiki/Center_for_Demographic_Genetics_of_Academy_of_Sciences_and_Arts_of_Bosnia_and_Herzegovina

Cal's genes reflect an anticipation of the future: the disclosure of his actual sex identity. Cal mimics this "genetic ... That's genetic, too." This is an allusion to the poet Homer, who was also captivated with the nature versus nurture debate. In ... The puzzle of Cal's genetic identity is akin to the creature's labyrinth, and the thread that leads out of the maze is held ... Addressing how genetic determinism may have renewed the antediluvian beliefs about destiny, Eugenides refutes the post-Freudian ...

https://en.wikipedia.org/wiki/Middlesex_(novel)

... s generally show genetic anticipation: their severity increases with each successive generation ... "Fragile XE syndrome". Genetic and Rare Diseases Information Center (GARD). Retrieved 14 September 2012. Laskaratos, Achilleas; ... Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused ... potential implications for genetic instability". Nucleic Acids Research. 39 (17): 7444-54. doi:10.1093/nar/gkr429. PMC 3177194 ...

https://en.wikipedia.org/wiki/Trinucleotide_repeat_disorder

Tombs on Oronsay Oronsay Priory was improved in anticipation of Queen Elizabeth's visit. The Strand looking west with Oronsay ... genetic analysis has shown Australian and New Zealand A. m. ligustica introgression. The summit of Beinn Orasaigh with Beinn ...

https://en.wikipedia.org/wiki/Oronsay,_Colonsay

Genetic variability may influence hedonic hyperphagia. Variation in hedonic hunger levels from person to person may be key in ... The presence of desirable (or "hedonic") food, or the mere anticipation of it, makes one hungry. The psychological effects of ... To assess this, a Power of Food Scale (PFS) has been developed that quantifies a person's appetitive anticipation (not ...

https://en.wikipedia.org/wiki/Hedonic_hunger

These patients also exhibited an increased rate of telomere-shortening, and genetic anticipation (i.e., the DC phenotype ... Griffiths AJ, Wesslet SR, Carroll SB, Doebley J (2008). Introduction to Genetic Analysis. W. H. Freeman. ISBN 978-0-7167-6887-6 ... Marrone A, Walne A, Dokal I (June 2005). "Dyskeratosis congenita: telomerase, telomeres and anticipation". Current Opinion in ... "Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians". Proc. Natl. Acad. Sci. U.S ...

https://en.wikipedia.org/wiki/Telomerase

2018-07-06). "Both rare and common genetic variants contribute to autism in the Faroe Islands". npj Genomic Medicine. 4: 1. ... have been associated with addiction and were found to alter the function of brain regions responsible for reward anticipation. ... Perhaps the most compelling genetic links are between kalirin and schizophrenia. Numerous missense mutations in KALRN have been ... 2016-04-07). "Mouse and Human Genetic Analyses Associate Kalirin with Ventral Striatal Activation during Impulsivity and with ...

https://en.wikipedia.org/wiki/Kalirin

While reward anticipation is associated with ventral striatum activation, negative outcome anticipation engages the amygdala. ... Individual differences in loss aversion are related to variables such as age, gender, and genetic factors affecting thalamic ... Consistent with gain anticipation, the slope of the activation for increasing losses was significantly greater than the slope ... Biased anticipation of negative outcomes leading to loss aversion involves specific somatosensory and limbic structures. fMRI ...

https://en.wikipedia.org/wiki/Loss_aversion

SCA1 is known to exhibit genetic anticipation, where one generation with the disease may exhibit earlier onset and faster ... Genetic testing can be administered at various stages of disease progression. When genetic testing is administered after the ... before initiating diagnostic genetic testing. Because no preventative or curative treatments are known for SCAs, genetic ... However, genetic testing is high in cost and has a low diagnostic yield, with positive diagnoses being found in only 24% of ...

https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type_1

... genetic and lifestyle. Preventive healthcare relies on the anticipation of the diseases, before they take occur. Among these ...

https://en.wikipedia.org/wiki/Preventive_action

... severity of disease in successive generations due to increases in the number of repeats is known as genetic anticipation. ... Genetic testing for Huntington's disease has raised several ethical issues. The issues for genetic testing include defining how ... Counseling and guidelines on the use of genetic testing for HD have become models for other genetic disorders, such as ... Borry P, Goffin T, Nys H, Dierickx K (2008). "Predictive genetic testing in minors for adult-onset genetic diseases". The Mount ...

https://en.wikipedia.org/wiki/Huntington's_disease

Her interest in genetic engineering began in 2009 when she read an article in The New Yorker about synthetic biology and the ... They wrote that "some chapters are short yet powerful, which leave the reader in complete suspense and anticipation". In ... It is a twisted and sometimes terrifying exploration of the incredible possibilities of genetic manipulation and life extension ...

https://en.wikipedia.org/wiki/Arwen_Elys_Dayton

The story follows Henry DeTamble (Bana), a Chicago librarian with a paranormal genetic disorder that causes him to randomly ... Filming began in September 2007, originally in anticipation of an autumn 2008 release. The film's release was postponed with ...

https://en.wikipedia.org/wiki/The_Time_Traveler's_Wife_(film)

... the concept of an agent making decisions Anticipation (genetics), where the severity of a genetic disorder increases with each ... Anticipation may also refer to: Anticipation (video game), a 1988 game for the Nintendo Entertainment System Anticipation ( ... 2004 Anticipation, a 2009 mixtape by Trey Songz Anticipation, a type of nonchord tone "Anticipation", a song by Blonde Redhead ... Anticipation (Carly Simon album), 1971 "Anticipation" (song), the title track of this album Anticipation (Lewis Black album), ...

https://en.wikipedia.org/wiki/Anticipation_(disambiguation)

Casement, M. D.; Shestyuk, A. Y.; Best, J. L.; Casas, B. R.; Glezer, A.; Segundo, M. A.; Deldin, P. J. (2008). "Anticipation of ... There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and ... However, there are some indications that there is a genetic predisposition to dysthymia: "The rate of depression in the ... Biologically these groups are also differentiated in that healthy individuals showed greater neurological anticipation for all ...

https://en.wikipedia.org/wiki/Dysthymia

Genetic engineering has led to the generation of humanized and chimeric antibodies, by exchanging the murine constant and ... Although this has reduced the sometimes extreme immunogenicity associated with murine mAbs, the anticipation that all fully ... Several innovations in genetic engineering has resulted in the decrease in immunogenicity, (also known as deimmunization), of ... the genetic backgrounds of most humans worldwide. By calculating the density of high-scoring frames within a protein, it is ...

https://en.wikipedia.org/wiki/Immunogenicity

... as genetic anticipation (earlier disease onset with each generation) is associated with some mutations. Classically, the ... Genetic status has been shown to greatly impact response to CVD. A team of researchers from the National Institutes of Health ... Determining the genetic status of a pheochromocytoma patient is crucial - each gene is inherited in a different pattern, ... Of all the genetic variants, succinate dehydrogenase subunit B (SDHB) mutations have the highest rates of developing metastatic ...

https://en.wikipedia.org/wiki/Pheochromocytoma

Filmmaker and actress Marianna Palka, 33 years old, is joined by friends in anticipation of the genetic testing results she ... It follows actress and filmmaker Marianna Palka as she pursues testing to learn whether she inherited the genetic mutation that ...

https://en.wikipedia.org/wiki/The_Lion's_Mouth_Opens

... time the trauma and relationship to the victims typically evolve in a similar but more complicated way to genetic anticipation ... Social, cultural, economic, and genetic mechanisms are intertwined in a complex manner. This results in significant hurdles in ... DNA methylation allows creation of epigenotype maps and the study of epiallele inheritance patterns in the absence of genetic ... helped determine that any individual who undergoes extreme stress is susceptible to pass on these epigenetics to genetic ...

https://en.wikipedia.org/wiki/Transgenerational_trauma

... genetic predisposition to disease MeSH C23.550.291.687.500.500 - anticipation, genetic MeSH C23.550.291.750 - diseases in twins ... genetic MeSH C23.550.210.645.890 - uniparental disomy MeSH C23.550.210.760 - ring chromosomes MeSH C23.550.210.815 - sex ... chromosome aberrations MeSH C23.550.210.815.970 - xyy karyotype MeSH C23.550.210.870 - translocation, genetic MeSH C23.550. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C23)

anticipation A phenomenon by which the symptoms of a genetic disorder become apparent (and often more severe) at an earlier age ... Genetic counseling integrates genetic testing, genetic genealogy, and genetic epidemiology. genetic disorder genetic distance A ... Genetic variability is similar to, though distinct from, genetic diversity. genetic variation The genetic differences both ... genetic diversity The total number of genetic traits or characteristics in the genetic make-up of a population, species, or ...

https://en.wikipedia.org/wiki/Glossary_of_genetics_(0–L)

Molecular genetic studies have identified transduction and transcription factors that act in neurocircuitry associated with the ... The craving and deficits in executive function in the so-called preoccupation/anticipation stage involve the dysregulation of ...

https://en.wikipedia.org/wiki/Desire

However, due to genetic anticipation and X-inactivation in females, the inheritance of Fragile X syndrome does not follow the ... with their grandchildren affected by the condition at a higher rate than their siblings suggesting that genetic anticipation ... Diagnosis requires genetic testing to determine the number of CGG repeats in the FMR1 gene. Normally, there are between 5 and ... Genetic mouse models of FXS have also been shown to have autistic-like behaviors. FXS is characterized by social anxiety, ...

https://en.wikipedia.org/wiki/Fragile_X_syndrome

Which would you rather be: idiot or convict? Conrad wrote H.G. Wells that the latter's 1901 book, Anticipations, an ambitious ... claim superiority on the part of Europeans on the grounds of alleged genetic or biological difference." If Conrad or his novel ... In a second edition of Anticipations (1902), Wells included a note at the end of chapter 1 acknowledging a suggestion regarding ...

https://en.wikipedia.org/wiki/Joseph_Conrad

de Belle, J.S.; Hiliker, A.J.; Sokolowski, M.B. (1 September 1989). "Genetic localization of foraging (for): a major gene for ... and arrived to those locations up to thirty minutes before the feeding event in anticipation of the food reward. Foraging ...

https://en.wikipedia.org/wiki/Foraging

2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk". Thorax. 59 (3): 259 ... higher doses do not provided additional benefit although they can be used in anticipation of an interruption of weekly ... a new paradigm for hepatocellular carcinoma in genetic liver disease". Hepatology. 42 (3): 514-21. doi:10.1002/hep.20815. PMID ...

https://en.wikipedia.org/wiki/Alpha-1_antitrypsin

Intentional participation is "keen observation and listening in anticipation of, or in the process of engaging in endeavors". ... delineating the difference between cultural and genetic acquisition. Strong evidence already exists for mate choice, bird song ...

https://en.wikipedia.org/wiki/Observational_learning

This behavior may be in response to a surge of adrenaline or may be caused by the anticipation of a pending hunt. Cats rely ... Some species of cats cannot be socialized towards humans because of factors like genetic influence and in some cases specific ... ISBN 0-85198-715-X. Alder, H.E. (1955). "Some Factors of Observational Learning". The Journal of Genetic Psychology. 86 (1): ...

https://en.wikipedia.org/wiki/Cat_behavior

"The genetic and environmental aetiology of spatial, mathematics and general anxiety". Scientific Reports. 7 (1): 42218. Bibcode ... Spatial anxiety is also linked to the feeling of stress regarding the anticipation of a spatial-content related performance ...

https://en.wikipedia.org/wiki/Spatial_anxiety

Ecology: Leila Satari, Alba Guillén, Àngela Vidal-Verdú, and Manuel Porcar, for using genetic analysis to identify the ... Murakami, Hisashi; Feliciani, Claudio; Nishiyama, Yuta; Nishinari, Katsuhiro (March 2021). "Mutual anticipation can contribute ... for conducting experiments to learn how mutual anticipation can contribute to self-organization in crowds. Entomology: John ...

https://en.wikipedia.org/wiki/List_of_Ig_Nobel_Prize_winners

In July 1967, lead single "Heroes and Villains" was issued, arriving after months of public anticipation, and reached number 12 ... of tone and genetic proximity that smoothed their voices was almost creepy, pseudo-castrato, [and] a 'barbershop' sound." Jimmy ...

https://en.wikipedia.org/wiki/The_Beach_Boys

It was shown that genetic changes in D. subobscura at these sites can be used as a possible tool to track global climate ... During this time, involved parties knew that D. subobscura was simply a manuscript name, thus creating anticipation that Collin ... A genetic dissection of the X chromosome for speciation gene". Hereditas. 114 (2): 189-95. doi:10.1111/j.1601-5223.1991.tb00323 ... Dolgova, O.; Rego, C.; Calabria, G.; Balanyà, J.; Pascual, M.; Rezende, E. L.; Santos, M. (2010). "Genetic constraints for ...

https://en.wikipedia.org/wiki/Drosophila_subobscura

Many more genetic components of the biological clock are now known. Their interactions result in an interlocked feedback loop ... Anticipation of changes in the environment allows appropriate changes in a plant's physiological state, conferring an adaptive ... It is possible that genetic and/or environmental disturbances to the normal sleep and wake cycle can increase the ... which have a genetic defect in their circadian clock mechanism. When maintained in a 24-hour light-dark cycle that was "out of ...

https://en.wikipedia.org/wiki/Circadian_rhythm

The anticipation was apparently more aversive than the shock, which would not have been predicted by traditional behavioral ... Hobart Mowrer was an advocate of the idea that mental illness has a substantial biological and genetic basis. He held this ...

https://en.wikipedia.org/wiki/Orval_Hobart_Mowrer

A study conducted in 2019 on the Habsburg jaw concluded a genetic link was highly likely, specifically as a recessive trait; ... the 1697 Treaty of Ryswick was the result of mutual exhaustion and Louis's search for allies in anticipation of a contest over ... however, this is based on an analysis of portraits and in the absence of genetic material such claims remain speculative. ...

https://en.wikipedia.org/wiki/Charles_II_of_Spain

... and anticipation of a painful caesarean birth-and he is expected to like it, as women in many cultures have been expected to ... The Evening and the Morning and the Night explores a world where a genetic disease has caused the appearance of a new social ... a dangerous genetic disorder that causes "drift", a dissociative state characterized by violent psychosis and self-harm. The ...

https://en.wikipedia.org/wiki/Bloodchild_and_Other_Stories

The disorder is called "dystrophy" instead of "degradation" to distinguish its genetic origin from other causes, such as age. ... While the mutation is dominant, OMD may manifest more strongly and earlier in children than in the parent (anticipation). ... July 2013). "Clinical and genetic characteristics of Korean occult macular dystrophy patients". Investigative Ophthalmology & ...

https://en.wikipedia.org/wiki/Occult_macular_dystrophy

Arnon J, Meirow D, Lewis-Roness H, Ornoy A (2001). "Genetic and teratogenic effects of cancer treatments on gametes and embryos ... As with any distressing treatment, some patients vomit immediately during radiotherapy, or even in anticipation of it, but this ... In males previously having undergone radiotherapy, there appears to be no increase in genetic defects or congenital ... and can lead to dramatic chromosomal abnormalities and genetic deletions. Targeting double-stranded breaks increases the ...

https://en.wikipedia.org/wiki/Radiation_therapy

The disease can recur in future pregnancies, with a calculated genetic chance of 25%; the actual rate is lower, however. ... but aggressive treatment by stabilizing the mother with intravenous fluids and blood products in anticipation of early delivery ...

https://en.wikipedia.org/wiki/Acute_fatty_liver_of_pregnancy

Molecular genetic testing by linkage analysis or direct mutation screening is clinically available; however, genetic ... Geberth S, Ritz E, Zeier M, Stier E (1995). "Anticipation of age at renal death in autosomal dominant polycystic kidney disease ... in patients requesting genetic counseling, especially in couples wishing a pre-implantation genetic diagnosis. The findings of ... which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the ...

https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

Unlike DM1, anticipation does not result, as the degree of repeat expansion beyond 75 repeats does not affect the age of onset ... In addition, genetic counseling should be made available to all people because of the high risk of transmission. Potentially ... Anticipation tends to be less severe than in cases of maternal inheritance.[citation needed] The RNA from the expanded ... Genetic tests, including prenatal testing, are available for both confirmed forms. Molecular testing is considered the gold ...

https://en.wikipedia.org/wiki/Myotonic_dystrophy

This lack of genetic diversity threatens the current stability of populations and long-term survival because of the increased ... Frozen moor frogs also have greater concentrations of antioxidants; which are presumably made in anticipation of the oxidative ... It is known that existing populations in Europe are small in number which indicates a significant loss of genetic diversity. ... Moor frogs can adapt to the various effects of acidification through long-term selection causing genetic change or spontaneous ...

https://en.wikipedia.org/wiki/Moor_frog

... and the team won two CCAA championships before the sport was discontinued because of low attendance and in anticipation of the ... Cornerstone of the California Citrus Genetic Resources Conservation and Utilization System". International Citrus Congress. ...

https://en.wikipedia.org/wiki/University_of_California,_Riverside

There is a body of evidence which suggests the phobia has genetic underpinnings, though many phobics also cite a traumatic life ... or in anticipation of an injection, injury, or exposure to blood. Blood-like stimuli (paint, ketchup) may also cause a reaction ... It is believed that this evidences the phobia's genetic underpinnings. One study estimated actual heritability of the phobia at ... Various studies indicate an underlying genetic cause, wherein certain genes make an individual more vulnerable to developing ...

https://en.wikipedia.org/wiki/Blood-injection-injury_type_phobia

Genetic sequencing revealed that this outbreak was caused by the Zaire Ebola species, which is native to the DRC; there have ... "Anticipation Grows as Sierra Leone Readies to be Declared Ebola-free". VOA. Retrieved 8 November 2015. Ebola Situation Report ( ... "Genetic mutations in deadly Ebola virus appear to block antibody-based treatments". News-Medical.net. 14 September 2015. ... Another study published in October 2014 suggested that a person's genetic makeup may play a major role in determining how an ...

https://en.wikipedia.org/wiki/Western_African_Ebola_virus_epidemic

Fear, discomfort or anxiety may be triggered both by the presence and the anticipation of the specific object or situation. The ... Loken EK, Hettema JM, Aggen SH, Kendler KS (August 2014). "The structure of genetic and environmental risk factors for fears ... The mechanisms for development of specific phobias can be distinguished between innate (genetic and neurobiological) factors, ... There is also evidence for the validity of a genetic component contributing to blood-injection-injury phobias and animal ...

https://en.wikipedia.org/wiki/Specific_phobia

The KOR antagonist significantly increased fMRI ventral striatum activation during reward anticipation while accompanied by ... Not only are genetic differences in dynorphin receptor expression a marker for alcohol dependence but a single dose of a KOR ...

https://en.wikipedia.org/wiki/Κ-opioid_receptor

FSHD can be presumptively diagnosed in many cases based on signs, symptoms, and/or non-genetic medical tests. Genetic testing ... As of 2019, more detailed studies are needed to definitively show whether or not anticipation plays a role. If anticipation ... FSHD and the myotonic dystrophies have unique genetic mechanisms that differ substantially from the rest of genetic myopathies ... Genetic testing is the gold standard for FSHD diagnosis, as it is the most sensitive and specific test available. Commonly, ...

https://en.wikipedia.org/wiki/Facioscapulohumeral_muscular_dystrophy

When certain genetic disorders are passed from one generation to the next, the signs and symptoms may become more severe. This ... This phenomenon is called anticipation. Anticipation is most often seen with certain genetic disorders of the nervous system, ... Not all of these differences can be explained by anticipation. A combination of genetic, environmental, and lifestyle factors ... What are the different ways a genetic condition can be inherited?. *If a genetic disorder runs in my family, what are the ...

https://medlineplus.gov/genetics/understanding/inheritance/anticipation/

Genetic anticipation in Behcets syndrome. Ann Rheum Dis. 1998 Jan. 57(1):45-8. [QxMD MEDLINE Link]. ...

https://www.medscape.com/answers/1006358-115743/which-activity-modifications-are-used-in-the-treatment-of-behcet-syndrome

Genetic Diseases, Inborn / genetics* * Genetics, Population* * Humans * Predictive Value of Tests * Trinucleotide Repeats / ... Trinucleotide repeats not the only cause of anticipation Lancet. 1997 Aug 16;350(9076):459-60. doi: 10.1016/S0140-6736(05)63077 ...

https://pubmed.ncbi.nlm.nih.gov/9274580/?dopt=Abstract

ANTICIPATION, GENETIC. ANTICIPACION GENETICA. APHYLLOPHORALES. APHYLLOPHORALES. APHYLLOPHORALES. AQUAPORINAS. AQUAPORINS. ...

https://decs.bvs.br/P/decswebpage2p.htm

Genetic counselling. Anticipation. MD1 follows an autosomal dominant inheritance pattern. Therefore, the likelihood of the ... Genetic diagnosis. Diagnostic confirmation of MD1 requires detection of the genetic alteration responsible for the disease. The ... this phenomenon is known as genetic anticipation. Expansions of between 50 and 80 CTG repeats may be transmitted for several ... Genetic counselling must be offered to patients and relatives.. Conclusion. MD1 is a multisystemic disease that requires ...

https://www.elsevier.es/en-revista-neurologia-english-edition--495-articulo-clinical-guide-for-diagnosis-follow-up-S2173580820300535

Does genetic anticipation occur in familial Alexander disease?. Hunt, C. K., Al Khleifat, A., burchill, E., Ederle, J., Al- ... Amyotrophic lateral sclerosis: recent genetic highlights. Research output: Contribution to journal › Article › peer-review ...

https://kclpure.kcl.ac.uk/portal/en/persons/jemeen-sreedharan

2009) Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates ... neural reward anticipation signals in the human brain is compatible with animal studies that show neural reward anticipation ... Reward anticipation was represented in the ERFs and theta (5-8 Hz) and beta (20-30 Hz) oscillatory power with an onset latency ... Contextual Novelty Modulates the Neural Dynamics of Reward Anticipation. Nico Bunzeck, Marc Guitart-Masip, Ray J. Dolan and ...

https://www.jneurosci.org/content/31/36/12816

The genetic basis of HD is the expansion of a cysteine-adenosine-guanine (CAG) repeat encoding a polyglutamine tract in the N- ... Inheritance through the father can lead to earlier onset through succeeding generations, a phenomenon termed anticipation. This ... Both genetic and environmental components account for this variability. The US-Venezuela Collaborative Research Project studied ... With the increasing amount of genetic/hereditary information available in HD, the question of whether patients and/or family ...

http://emedicine.medscape.com/article/1150165-overview

Another interesting aspect is related to the phenomenon of genetic anticipation. Since the first descriptions by Kanner, ... genetic or not. Someone could say that if the cause is not genetic, the patient certainly will not go to a genetic counseling ... But, genetic counseling for families of ASD individuals is a difficult procedure. The most important aspect is that genetic ... 3. Genetic counseling in autism of unknown etiology On taking into account all technologies, an underlying genetic diagnosis is ...

https://www.intechopen.com/chapters/17283

Genetic engineering, appropriation of genomes and industrial biomimicry fit perfectly within this anticipation. ... Marxs anticipations. Anticipations of the way the human-nature relationship would evolve under capitalism are numerous and ... conclusions from his genius anticipations. I could give many illustrations of this assertion. Suffice it to mention a few. ...

https://internationalviewpoint.org/spip.php?article2815

Newborn screening is in development for SMA, with the anticipation of a treatment. And for Duchenne, there are treatments on ... Genetic testing (all types). Genetic tests are now available for many of the diseases in MDAs program. Prices range from a low ... PGD is almost always done because a couple has a history of a genetic disease. An embryo carrying a disease-causing genetic ... Any genetic test that can be performed on an embryo also can be performed on these cells, with the option to terminate the ...

https://www.mda.org/quest/article/do-you-really-want-know

... as well as the genetic factors that determine test specificity and sensitivity, and hence offer different values for users. ... Drug response is highly variable and some of this variation is due to inherited genetic variants. Genetic variants are ... In pre-emptive testing, drug response genes are tested in anticipation of future prescription events, providing a lifetime ... This approach is exemplified by warfarin-dosing algorithms that use both genetic and non-genetic factors to individualize ...

https://www.nature.com/articles/s41525-018-0065-4?error=cookies_not_supported&code=0bc72051-a519-4140-9da9-e15974065fa0

The individual is the genetic source of human diversity. The entrepreneur, inventor, social reformer, revolutionary leader, ... Anticipation in Law and Social Science by Winston Nagan. *Anticipation, Transdisciplinary Social Theory and Integrated Thinking ... Anticipation is a widespread phenomenon present in and characterizing all types of systems, forcing a re-evaluation of the very ... Values and Anticipation for the Elderly and Migrants by Saulo Jose Casali Bahia ...

http://www.worldacademy.org/conferences/anticipation-2017?amp%3Bqt-courses_menu=2&qt-officers_menu=0&qt-courses_menu=1&qt-events_menu=2&qt-about_waas=5&qt-publications=5&qt-programs_menu=9

Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J ... anticipation, whereby a genetic disorder passed to the next generation manifests at an earlier age and in a more severe form, ... Other genetic causes of PAH include mutations in ACVRL1, SMAD9, ENG, CAV1, and KCNK3 genes.13 The prevalence of these mutations ... Targeting genetic and epigenomic factors such as microRNA has been postulated as a possible future treatment.29 Another ...

https://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/pulmonary/pulmonary-arterial-hypertension/

Genetic anticipation is often seen in this condition with the number of repeats increasing by up to 200 when transmitted from ... genetic anticipation does not appear to occur in this population (Thornton, 2014). Treatment:. Bracing can be helpful as a ... The genetic defect that leads to DM1 is a CTG trinucleotide repeat of the myotonic dystrophy protein kinase gene on chromosome ... Meola G, Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. ...

https://posna.org/Physician-Education/Study-Guide/Myotonic-Dystrophy

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families ... Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human ... A number of different rearrangements have been reported that clearly document the involvement of this mutation type in genetic ... The information aimed to improve our understanding of the nature and frequency of these genetic events in Egypt. ...

http://www.emro.who.int/fr/emhj-vol-19-2013/volume-19-numero-3/screening-for-brca1-large-genomic-rearrangements-in-female-egyptian-hereditary-breast-cancer-patients.html

Other genetic and/or environmental variables are thought to be at play. Anticipation, incomplete penetrance, and clinically ... This feature is referred to as anticipation. Anticipation in some neurologic disorders is caused by expansion of trinucleotide ... Genetic conditions and hereditary forms of transthyretin amyloidosis should be discussed with the patient in regard to familial ... Genetic aspects of amyloidosis. Adv Hum Genet. 1991. 20:69-123, 309-11. [QxMD MEDLINE Link]. ...

https://emedicine.medscape.com/article/335301-overview

Pavi observed her with a shiver of anticipation. She would surely be waving her customer out the door in five minutes, then ... Movies » Repo! The Genetic Opera Rated: M, English, Angst & Drama, Blind Mag, Pavi, Words: 18k+, Favs: 15, Follows: 5, ...

https://m.fanfiction.net/s/6058291/1/

Ah yes, a genetic test for Type I hereditary hemochromatosis falls into the public domain because someone filed a patent before ... Anticipation of Later Patent. At the same time that Billups was conducting its research, another group of scientists isolated ... The patents-in-suit relate to a genetic test for Type I hereditary hemochromatosis that involves the detection of specific ... Abstract Idea Administrative Law Affirmed Without Opinion AIA Trials anticipation Broadest Reasonable Interpretation Business ...

https://patentlyo.com/patent/2011/05/billups-rothenberg-v-arup-dont-file-too-earlyor-too-late.html

It will then be possible for parents to "choose the allelic combinations of their future children in anticipation of their ... "Its sheer nastiness effectively spurs and punishes the living vehicles of genetic replicators." ... genetic engineering, or other forms of brain manipulation, it is often in passing, in a footnote, and with apparent ... thanks to genetic engineering and nanotechnology, and "ethically mandatory" on utilitarian grounds. ...

https://philosophynow.org/issues/56/The_End_of_Suffering

It is important that laboratories conducting genomic testing establish internal guidelines in anticipation of detection. ... While there may be considerable benefit to return of incidental genetic findings, these findings can be burdensome to providers ... Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation ... Table 2 Incidental genetic findings and outcomes identified across four study sites conducting genomic testing for pediatric ...

https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01139-2

... the reception of genetic qualities by transmission from parent to offspring; the acquisition of a possession, condition, or ... A new phase of ministry began with great anticipation.. Inheritance continues to share the gospel on concert stages, churches, ...

https://www.sgnscoops.com/inheritance-and-classic-artists-music-group-announce-music-partnership/

Second, the emotional and psychological stress that goes with the anticipation then the knowing of the results is significant. ... The genetic testing is not done in a vacuum either; part of the procedure is extensive discussions with a qualified genetic ... My mom called last night and wants to know if I want to go to see a genetic counselor and possibly get the BRCA testing done if ... My mom called last night and wants to know if I want to go to see a genetic counselor and possibly get the BRCA testing done if ...

https://forum.slowtwitch.com/forum/?post=1706406

... behind-the-scenes story of the first person with a genetic disorder to be treated in the United States with the revolutionary ... Other genetic therapies are also showing promise for sickle cell. So researchers have already started to try to make such ... All of us are watching with great anticipation." This is the story of Grays journey through the landmark attempt to use the ... Doctors hope it will give them a powerful new way to fight cancer, AIDS, heart disease and a long list of genetic afflictions. ...

https://www.kmuw.org/2019-12-25/a-young-mississippi-womans-journey-through-a-pioneering-gene-editing-experiment

Such consequences extend to both the person, in the short term and, in the case of inheritable genetic traits, for our species ... In its Germline Engineering Report, the AAAS advocated for a cool-headed assessment of the situation in anticipation of ... In the United States, the task of regulating human genetic research is given over to the Department of Health and Human ... First, biotechnology is fast approaching a point at which our genetic makeup can be electively modified to improve our wellness ...

https://pittsburghquarterly.com/articles/transhumanism-technology-for-the-spirit/

Contextual novelty enhanced the reward anticipation responses in both ERFs and in beta oscillations starting at ∼100 ms after cue onset. (jneurosci.org)
demonstrate a close relationship between different features of reward outcome and specific neural processes at ∼200-300 ms, the neural timing of reward anticipation in healthy humans remains unexplored. (jneurosci.org)
According to this possibility, the contextually modulated version of reward anticipation responses would replace the neural responses that represent the originally learned cue-outcome contingencies. (jneurosci.org)
Alternatively, contextual effects may be incorporated into reward prediction responses at a later point in time, hence modifying reward anticipation after the initially learned cue-outcome contingencies have been signaled. (jneurosci.org)
The study dealt with issues of anticipation as they relate to reward and punishment. (nadin.ws)
Several validated paradigms (e.g., fear conditioning, reward anticipation, imaging stress test, social reward learning task) are applied to stimulate a response in a basic system of human functioning (e.g., acute threat response, reward processing, stress response or social reward learning) that plays a key role in the development of affective, anxiety and stress-related mental disorders. (biomedcentral.com)
Here, we show with genetic analyses that three independent dopaminergic mechanisms contribute to reward and avoidance learning in humans. (dericbownds.net)
Mapping adolescent reward anticipation, receipt, and prediction error during the monetary incentive delay task. (knowledgetransferireland.com)

The Merck Manual Professional Version provides a brief explanation of anticipation as part of its chapter on nontraditional inheritance . (medlineplus.gov)
A complete family history is of great value for genetic inheritance patterns. (medscape.com)
X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. (rarerheumatologynews.com)
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors. (rarerheumatologynews.com)

Functional magnetic resonance imaging in healthy humans was applied to dissociate neural activation patterns associated with acute pain and its anticipation. (nadin.ws)
What are the genetic and neural components that support adaptive learning from positive and negative outcomes? (dericbownds.net)

Nov. 15, 2012-An inherited lung disease does not appear to have earlier onset and increased severity - a phenomenon called genetic anticipation - in successive generations. (vumc.org)
The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. (who.int)

This phenomenon is called anticipation. (medlineplus.gov)

The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. (medlineplus.gov)
Most genetic disorders have signs and symptoms that differ among affected individuals, including affected people in the same family. (medlineplus.gov)

Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease , myotonic dystrophy , and fragile X syndrome . (medlineplus.gov)
Anticipation typically occurs with disorders that are caused by an unusual type of variant (mutation) called a trinucleotide repeat expansion. (medlineplus.gov)
These disorders are idiopathic, occur in otherwise healthy children, and have (with rare exceptions) a strong genetic component. (medscape.com)
The VIB researchers are further testing this technology to treat specific diseases including cancer and genetic disorders, in anticipation of moving forward and treat patients suffering from these diseases. (genetherapynet.com)
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. (rarerheumatologynews.com)
She has a passion for working with the early childhood population, children with autism spectrum disorders, childhood apraxia of speech and rare genetic syndromes. (communicationstationspeech.com)

In pre-emptive testing, drug response genes are tested in anticipation of future prescription events, providing a lifetime value for the test. (nature.com)
The patents-in-suit relate to a genetic test for Type I hereditary hemochromatosis that involves the detection of specific mutations in genes involved in regulating iron absorption. (patentlyo.com)
Patients supply blood samples that can be used to either analyze the complete patient's genetic code or a gene or genes connected to a particular illness. (healthcareguys.com)

Predictive genetic testing in pediatric patients has traditionally been discouraged, especially for cases where prevention, management, or treatment options are unavailable (not "clinically actionable") or are related to adult-onset conditions about which the child should be allowed to, when they reach adulthood, make their own decisions. (biomedcentral.com)
The repeat expansion was seen in 11 of 12 patients examined and showed an inverse correlation with the age of onset confirming the phenomenon of anticipation. (who.int)

who show that three genetic variants of the dopamine systems that influence our reactions to positive and negative outcomes (and anticipations) have different effects on human reinforcement learning. (dericbownds.net)
This strategy is based on three principles described in this document, namely, anticipation , reinforcement and cure . (who.int)

Does genetic anticipation occur in familial Alexander disease? (kcl.ac.uk)
PGD is almost always done because a couple has a history of a genetic disease. (mda.org)
An embryo carrying a disease-causing genetic mutation, identified when the sample cell is removed for analysis, won't be implanted. (mda.org)
Victoria Gray, who has sickle cell disease, volunteered for one of the most anticipated medical experiments in decades: the first attempt to use the gene-editing technique CRISPR to treat a genetic disorder in the United States. (kmuw.org)
These episodes are one of the worst things about sickle cell disease , a common and often devastating genetic blood disorder. (kmuw.org)
Gray is now 34 and lives in Forest, Miss. She volunteered to become the first patient in the United States with a genetic disease to get treated with the revolutionary gene-editing technique known as CRISPR . (kmuw.org)
The disease is caused by a genetic defect that turns healthy, plump and pliable red blood cells into deformed, sickle-shaped cells. (kmuw.org)
If you are aware that you have a genetic illness, you may be able to receive appropriate treatment or take steps to lessen the likelihood that the disease may manifest. (healthcareguys.com)
History of genetic disease: the molecular genetics of Huntington disease - a history. (medlineplus.gov)

Nonetheless, such molecular genetic analyses may have immense value as a screening procedure to identify premutations as well as in prenatal diagnoses. (who.int)

L'amplification multiplex de sonde nucléique dépendant des ligatures nous a permis de mettre en évidence des réarrangements sur le gène BRCA1 dans 4 cas sur 22 (18,2 %) de cancer du sein familial. (who.int)

Despite high intakes of antioxidant micronutrients, no adaptive mechanism to enhance anticipation (able to counteract the increased oxidative stress in ageing) was found in exercising subjects. (nadin.ws)
So what is the genetic mechanism? (psyfitec.com)
Seeds carry the full genetic complement of the crop and serve as the genetic delivery mechanism for a crop production system. (arizona.edu)

Physical examination findings in patients with ATTR depend on the organ involved, which is affected by the presence and genetic identity of a TTR variant. (medscape.com)
While there may be considerable benefit to return of incidental genetic findings, these findings can be burdensome to providers and present risk to patients. (biomedcentral.com)
Anticipation of pain can in its own right cause mood changes and behavioural adaptations that exacerbate the suffering experienced by chronic pain patients. (nadin.ws)

Dec. 10, 2012-A rare genetic syndrome provides new clues to lung scarring (pulmonary fibrosis), a potentially deadly consequence of many lung diseases. (vumc.org)

Drug response is highly variable and some of this variation is due to inherited genetic variants. (nature.com)
This is believed to be caused by genetic risk variants leading to an excessive elimination of nerve cell connections by the immune cells of the brain. (medicalxpress.com)

With the planting of every crop there is a time of anticipation as we wait and watch for germination, seedling emergence, and the development of a good stand of plants to start the crop season. (arizona.edu)

Drought tolerant breed can be developed through genetic modification. (blogspot.com)
It is expected that it will be possible to realize the expected adverse environment in the future such as drought and crop development in anticipation of the future global environment by utilizing this system. (go.jp)

In preparation for the First International Conference on Anticipation, co-organized by the UNESCO Chair of Anticipatory Systems and WAAS, a webinar on "Anticipation and Complexity: Foreseeing a New Paradigm of Human Development" was conducted on April 13, 2015. (worldacademy.org)
This forum intended to explore the Anticipation topics of the conference and build on the WAAS programing on Complexity and New Paradigm. (worldacademy.org)

If preimplantation genetic diagnosis has its desired effect - reducing the number of children born with disabling conditions - "it could change the way society views the disabled," says a 2004 report by the Genetics and Public Policy Center at Johns Hopkins University in Baltimore. (mda.org)
An updated nonpathogenic H5N1 the public health response to the outbreak: 1) What is the reference virus, lacking the polybasic cleavage site in the hemagglutinin gene, was produced by reverse genetics in genetic diversity of H5N1 viruses involved in human infec- anticipation of the possible need to vaccinate humans. (cdc.gov)
Postdoc Sarah Earle continues research into pathogen genetic risk factors for diseases including tuberculosis and meningococcal meningitis, while Steven Lin has continued to pursue work on hepatitis C virus genetics and epidemiology. (me.uk)

The traditional, bureaucratic structure adopted by organizations and institutions (e.g. governments) derives from an understanding of systems that precedes the discovery of both complexity and anticipation. (worldacademy.org)

Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. (tremorjournal.org)
FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. (tremorjournal.org)
This was further established in the two pedigrees studied, clearly demonstrating both clinical and genetic anticipation. (who.int)

Toutefois, après une étude plus approfondie des cas ayant des parentes au premier et second degré touchées, nous avons observé une différence significative entre le pourcentage de patientes positives pour les grands réarrangements génomiques sur le gène BRCA1 et celui des patientes dont les analyses étaient négatives en la matière. (who.int)
Along with groups at McGill and the Broad Institute , I have contributed analyses of UK Biobank to investigate genetic risk factors for COVID-19. (me.uk)

Distinct phenotypic traits might reflect different genetic mutations. (tremorjournal.org)

The '130 patent reports the genetic sequence of the S65C mutation, among with others that the inventors believed relevant to hemochromatosis, and describes techniques for conducting genetic assays that it states can be used to design a diagnostic device and method for screening the mutations. (patentlyo.com)

Gene therapy is the introduction of genetic material into a patient's cells resulting in a cure or a therapeutic effect. (genetherapynet.com)

In September, K.M., who asked not to be identified, gave birth to healthy twins, a girl and a boy, conceived using in vitro fertilization and preimplantation genetic diagnosis. (mda.org)
Preimplantation genetic diagnosis (PGD), available since the mid-1990s, requires IVF, followed by removal for analysis of one of the embryo's cells two or three days after fertilization. (mda.org)

The Myotonic Dystrophy Foundation describes anticipation in the context of myotonic dystrophy . (medlineplus.gov)
On the contrary, Pearce argues that we should strive to "eradicate suffering in all sentient life" - a project which he describes as "technically feasible" thanks to genetic engineering and nanotechnology, and "ethically mandatory" on utilitarian grounds. (philosophynow.org)
IV describes the provisional convergence of these motifs in the Wake's chapter II.3, which stages the murder of the Father and the destruction of his Name, before moving on to the genetic and textual evidence for Joyce's incorporation of the Freudian primal scene into that tableau and its narrative anticipations. (cornell.edu)

Not all of these differences can be explained by anticipation. (medlineplus.gov)
One line of thought suggests that the participation puzzle of why more people don't invest in stocks may be explained by genetic differences in brain function. (psyfitec.com)

Additionally, genetic anticipation does not appear to occur in this population (Thornton, 2014). (posna.org)

The hyper-IgE syndromes have multiple genetic bases. (medscape.com)

This corresponds to variations in anticipation. (nadin.ws)

The genetic defect that leads to DM1 is a CTG trinucleotide repeat of the myotonic dystrophy protein kinase gene on chromosome 19 which codes for myosin kinase expressed on skeletal muscle (Meola, 2014). (posna.org)
However, just knowing that there's a significant genetic component in stock market participation is really only half the story because we can be pretty sure that there's no gene that directly causes people to go out and start risking their capital on stocks. (psyfitec.com)
Using the principles of evolution and natural selection, that were initially conceived by Charles Darwin, they have now developped an efficient and safe gene delivery approach based on non-viral genetic elements, called transposons. (genetherapynet.com)
The circadian clock drives ~24hr rhythms in a variety of processes, from gene expression through to behaviour, facilitating anticipation of daily changes in the external environment and temporal separation of internal processes. (bl.uk)

Pharmacogenomics (PGx) is the study of inherited genetic information that influences drug response and determines drug behavior. (nature.com)
Nonetheless, twin studies are one of the best ways we have of trying to detect genetic influences and have helped identify a wide range of areas in which nature is a significant factor in behaviour. (psyfitec.com)

Human performance being anticipation driven, this study is informative in respect to conceptual issues regarding the definition of variability. (nadin.ws)
I do not believe in soulless 'genetic' driven feelings. (fourwhitepaws.net)

Researchers study multiple generations of affected family members and consider the genetic cause of a disorder before determining that it shows anticipation. (medlineplus.gov)

It is important that laboratories conducting genomic testing establish internal guidelines in anticipation of detection. (biomedcentral.com)

Both genetic variations and environmental factors partake synergistically in the development of MS. The effect size of genetic risk factors ranges from small to modest. (biomedcentral.com)

A new phase of ministry began with great anticipation. (sgnscoops.com)
All of us are watching with great anticipation. (kmuw.org)
We entered the sacred space reverently, with great anticipation. (dna-explained.com)
With great anticipation our online store is now active! (1steroids.net)

As the epidemic grows, so does the probability that this virulent virus will acquire genetic traits for increased person-to-person transmissibility, potentially setting the stage for the next global influenza pandemic ( 1 ). (cdc.gov)

Anticipations of the way the human-nature relationship would evolve under capitalism are numerous and remarkable in Marx's work. (internationalviewpoint.org)
1999. Dissociating pain from its anticipation in the human brain. (nadin.ws)
Still, if we give this research the benefit of the doubt it's widely believed that human IQ has a genetic component. (psyfitec.com)
Genetic Engineering has been one of the biggest thunderbolts of modern science that has shaken the roots of human DNA and hereditary. (healthcareguys.com)
While these bird flu outbreaks are largely an animal health issue, CDC is working closely with USDA to monitor for potential human infections and taking other routine preparedness and prevention measures in anticipation of possible human infections. (cdc.gov)

We had a lineup of presenters from diverse disciplines and had a vibrant discussion about the concept, study field, and implementation of Anticipation. (worldacademy.org)

Genetic anticipation is often seen in this condition with the number of repeats increasing by up to 200 when transmitted from mother to child (Thornton, 2014). (posna.org)

As important are the implications for the genetic resource within Britain, and the fauna and flora comprising the woodland ecosystem. (forestresearch.gov.uk)

Novavax stated that the delay stemmed primarily from difficulty in obtaining, growing, and maintaining genetic stability for the wild-type viruses needed to evaluate the immunogenicity of NanoFlu with currently circulating flu strains. (fool.com)
USDA has publicly posted genetic sequencing for several of the recently detected U.S. HPAI A(H5N1) viruses. (cdc.gov)

Following up on the pioneering, highly successful First International Conference on Anticipation co-organized by University of Trento, UNESCO, the World Academy of Art and Science and World University Consortium at Trento in November 2015, WAAS and WUC collaborated with the Department of Sociology and Social Research of the University of Trento, and the UNESCO Chairs in Anticipatory Systems to organize this important workshop. (worldacademy.org)
Research in anticipation is the need. (blogspot.com)
The anticipation principle intends to foster research areas that may lead to improve our capacity to predict future outbreaks and detect them as early as possible, these research strategies should also enforce the rapid sharing of surveillance data, in particular across endemic countries in which filovirus outbreaks have occurred in the past. (who.int)

Some argue that no fertilized egg should ever be discarded, no matter what its genetic makeup or stage of development. (mda.org)
First, biotechnology is fast approaching a point at which our genetic makeup can be electively modified to improve our wellness, prowess and genius to levels beyond the limitations of our evolutionary heritage. (pittsburghquarterly.com)

IFs are genetic findings that have medical relevance but that are not related to the indication for testing and not intentionally sought during analysis [ 1 , 2 ]. (biomedcentral.com)

So a simple twin study will look at whether identical twins are more similar on a certain trait than fraternal twins and then assume that any statistically significant difference has a genetic basis. (psyfitec.com)

For example, I recently upgraded my desktop to its maximum capacity of 8GB in anticipation of installing the 64 bit version of Windows 7. (askleo.com)

Involving specialists in CF care and infection control, genetic counseling, and communication can minimize these potential harms. (cdc.gov)

A combination of genetic, environmental, and lifestyle factors is probably responsible for the variability, although many of these factors have not been identified. (medlineplus.gov)

When someone in your family is informed that they may develop a genetic illness, it can strain relationships and raise worry levels. (healthcareguys.com)

Anatomy20

Organisms2

Diseases9

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment20

Psychiatry and Psychology71

Phenomena and Processes41

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena4

Humanities1

Information Science6

Named Groups2

Health Care9

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. (1/46)

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (2/46)

Why children with inflammatory bowel disease are diagnosed at a younger age than their affected parent. (3/46)

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (4/46)

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (5/46)

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. (6/46)

Structural basis for triplet repeat disorders: a computational analysis. (7/46)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. (8/46)

Anticipation, Genetic

Anticipation, Psychological

Reward

Archives

Intuition

Cues

Performance Anxiety

Magnetic Resonance Imaging

Set (Psychology)

Brain Mapping

Age of Onset

Motivation

Pain Perception

Reaction Time

Psychomotor Performance

Image Processing, Computer-Assisted

Gyrus Cinguli

Pedigree

Psychophysiology

Spinocerebellar Degenerations

Arousal

Emotions

Trinucleotide Repeats

Photic Stimulation

Feeding Behavior

Telomere Shortening

Weight Perception

Galvanic Skin Response

Functional Neuroimaging

Attention

Contingent Negative Variation

Cerebral Cortex

Gambling

Brain

Prefrontal Cortex

Circadian Rhythm

Oxygen

Myotonic Dystrophy

Basal Ganglia

Nerve Net

Compulsive Behavior

Startle Reaction

Decision Making

Amyloid Neuropathies

Genes, Dominant

Blinking

Frontal Lobe

Affect

Caudate Nucleus

Neural Pathways

Anhedonia

Helplessness, Learned

Lifting

Circadian Clocks

Analysis of Variance

Photoperiod

Alpha Rhythm

Nucleus Accumbens

Choice Behavior

Task Performance and Analysis

Feedback, Psychological

Amygdala

Cognition

Fear

Anxiety

Pain

Mental Processes

Individuality

Movement

Volition

Behavior, Animal

Conflict (Psychology)

Biological Clocks

Corpus Striatum

Electromyography

Fathers

Paternal Age

Behavior

Time Factors

Electroencephalography