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)

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

The specific genetic mutations present within the cancer cells may guide therapy, as well as determine how long that person is ... ISBN 978-0-7216-5381-5. Horwitz M, Goode EL, Jarvik GP (November 1996). "Anticipation in familial leukemia". American Journal ... Genetic studies may also be performed to look for specific mutations in genes such as FLT3, nucleophosmin, and KIT, which may ... The specific genetic abnormalities causing AML usually vary between those who develop the disease as a child versus an adult. ...

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

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

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

Tombs on Oronsay Oronsay Priory was recently 'improved' in anticipation of Queen Elizabeth's visit. The Strand looking west ... 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

For me, the key significance of the 'autism spectrum' lies in its call for and anticipation of a politics of neurological ... "The Geneticization of Autism: From New Reproductive Technologies to the Conception of Genetic Normalcy." Signs 34.4 (2009): 875 ... portal Medicine portal Autistic art Autistic Pride Day Anti-psychiatry Disability rights movement Functional diversity Genetic ...

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

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

... in successive generations is known as genetic anticipation. Instability is greater in spermatogenesis than oogenesis; ... Genetic testing for Huntington's disease, has raised several ethical issues. The issues for genetic testing include defining ... 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

Genetic, environmental, and psychological factors[2]. Risk factors. Family history, major life changes, certain medications, ... Biologically these groups are also differentiated in that healthy individuals showed greater neurological anticipation for all ... There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and ... there are some indications that there is a genetic predisposition to dysthymia: "The rate of depression in the families of ...

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

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

There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and ... Biologically these groups are also differentiated in that healthy individuals showed greater neurological anticipation for all ... However, there are some indications that there is a genetic predisposition to dysthymia: "The rate of depression in the ... "Anticipation of Affect in Dysthymia: Behavioral and Neurophysiological Indicators". Biological Psychiatry. 77 (2): 197-204. doi ...

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

... 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

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)

... 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

... 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)

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 ... Moreover, there is increasing evidence that, despite a range of genetic risks for addiction across the population, exposure to ... ΔFosB is the most significant gene transcription factor involved in addiction, since its viral or genetic overexpression in the ...

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

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

By the same token, he recognized that ascertainment was responsible for a phenomenon known as anticipation, the tendency for a ... Before 1943, the concepts in genetic equilibrium that are known today as the Hardy-Weinberg principle had been known as " ... Weinberg developed the principle of genetic equilibrium independently of British mathematician G.H. Hardy. He delivered an ... Weinberg observed that proportions of homozygotes in familial studies of classic autosomal recessive genetic diseases generally ...

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

... anticipation, genetic MeSH G13.420.275 - extrachromosomal inheritance MeSH G13.420.275.500 - genes, mitochondrial MeSH G13.420. ... genetic MeSH G13.920.795 - polymorphism, genetic MeSH G13.920.795.595 - polymorphism, restriction fragment length MeSH G13.920. ... MeSH G13.330.159 - gene flow MeSH G13.330.320 - genetic drift MeSH G13.370.180 - chromosome instability MeSH G13.370.180.180 - ... genetic heterogeneity MeSH G13.920.590 - mutation MeSH G13.920.590.029 - allelic imbalance MeSH G13.920.590.029.530 - loss of ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(G13)

... in addition to the genetic memory contained in DNA and the individual memory of the nervous system), and thus a new form of ... anticipation, or programming. Anthropogenesis corresponds to technogenesis. The French philosopher Jacques Derrida discusses ...

https://en.wikipedia.org/wiki/André_Leroi-Gourhan

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.[43] Strong evidence already exists for mate choice, bird ...

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

"Genetic and Cultural Evolution of Cooperation, Chapter 11". Berlin: Dahlem Workshop Reports. 2003. ISBN 0-262-08326-4.. ... Koenig, L. B.; McGue, M.; Krueger, R. F.; Bouchard (2007). "Religiousness, antisocial behavior, and altruism: Genetic and ... which is a mathematical equation used to study genetic evolution. An interesting example of altruism is found in the cellular ...

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

While reward anticipation is associated with ventral striatum activation,[35][36] negative outcome anticipation engages the ... Individual differences in loss aversion are related to variables such as age,[42] gender, and genetic factors[43] affecting ... 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.m.wikipedia.org/wiki/Loss_aversion

I agree with tkorrovi about all the advantages of anticipation, just not that it is necessary. That it is necessary has not ... Almost all "potential" AC systems (neural networks, genetic algorithms etc) are trainable, ie the abilities are not necessarily ... I thought that perhaps it meant anticipation in the short term, i.e. immediate cogent reaction to imagined possible events ( ... This hinges on the word "necessary". Anticipation is a very useful, desirable attribute for a conscious being to have. But that ...

https://en.wikipedia.org/wiki/Talk:Artificial_consciousness/NPOV_Version/discuss

March 2012). "Isolation, characterization, and genetic profiling of subpopulations of olfactory ensheathing cells from the ... in anticipation of an improved outcome.[11] As a result, the combination prevents alloimmunization, up-regulates Regulatory T ... genetic engineering, and therapeutic potential". Journal of Neurotrauma. 23 (3-4): 468-78. doi:10.1089/neu.2006.23.468. PMID ...

https://en.m.wikipedia.org/wiki/Olfactory_ensheathing_cells

The cause of anxiety disorders is a combination of genetic and environmental factors.[45] Risk factors include a history of ... state anxiety in the anticipation of threatening situations (whether they are actually deemed threatening or not).[39] A meta- ... Genetic differences account for about 43% of variance in panic disorder and 28% in generalized anxiety disorder.[55] Although ... Anxiety disorders are partly genetic but may also be due to drug use, including alcohol, caffeine, and benzodiazepines (which ...

https://en.m.wikipedia.org/wiki/Anxiety

Anticipations: Essays on Early Science Fiction and its Precursors. Syracuse University Press. pp. 47-49. ISBN 978-0815626404. ... 2003: Reading Frankenstein,[74] a new media performance work in which Mary Shelley is a genetic engineer and artificial life ... "Frankenstein and the Origins of Science Fiction". Anticipations: Essays on Early Science Fiction and Its Precursors. Ed. David ...

https://en.m.wikipedia.org/wiki/Frankenstein

The world price of vitamin C rose sharply in 2008 partly as a result of rises in basic food prices but also in anticipation of ... One explanation for the repeated loss of the ability to synthesize vitamin C is that it was the result of genetic drift; ... "Genetic Control of Ascorbic Acid Biosynthesis and Recycling in Horticultural Crops". Frontiers in Chemistry. 5: 50. Bibcode ...

https://en.wikipedia.org/wiki/L-ascorbic_acid

Arnon J, Meirow D, Lewis-Roness H, Ornoy A (2001). "Genetic and teratogenic effects of cancer treatments on gametes and embryos ... or even in anticipation of it, but this is considered a psychological response. Nausea for any reason can be treated with ... 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

A genetic mutation on chromosome 22 has also been associated with another genetic form of the disorder.[1] ... are particularly important for higher mental functions that control various aspects of human personality including anticipation ... The main genetic cause of frontal lobe epilepsy is an autosomal dominant disease called Autosomal Dominant Nocturnal Frontal ...

https://en.m.wikipedia.org/wiki/Frontal_lobe_epilepsy

If a person lived to an advanced age, it was due to genetic factors and/or a relatively easy lifestyle, since diseases of old ... This theory proposes that in old age a mutual disengagement between people and their society occurs in anticipation of death. ...

https://en.m.wikipedia.org/wiki/Elderly

All causes in this category are genetic, and generally very rare. These include mutations to the SF1 transcription factor, ... In anticipation of stressful situations, such as staying in a boarding kennel, dogs require an increased dose of prednisone.[43 ... "Autoimmune polyglandular syndrome type 1 , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... "Autoimmune polyglandular syndrome type 2 , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ...

https://en.m.wikipedia.org/wiki/Addison's_disease

Even in cases where the leaves are not yet brown, the pupa appear to turn that color in anticipation of the changing colors.[5] ... "Hot summer temperatures may stop movement of Papilio Canadensis butterflies and genetic introgression south of the hybrid zone ...

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

... lowering the blood sugar level in anticipation of a large influx into the blood of glucose resulting from the digestion of ...

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

Genetic components[edit]. L.J. and J.P. Chapman were the first to discuss the possibility that social anhedonia may stem from a ... More consistent reductions are observed with regard to emotional response during reward anticipation, which is reflected in a ... There is no validated treatment for social anhedonia.[44] Future research should focus on genetic and environmental risk ... Continued study of social anhedonia and its genetic components will help researchers and clinicians learn more about the cause ...

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

Borry P, Goffin T, Nys H, Dierickx K (2008). "Predictive genetic testing in minors for adult-onset genetic diseases". Mt. Sinai ... "Anticipation in Huntington's disease is inherited through the male line but may originate in the female". Journal of Medical ... Burson CM, Markey KR (2001). "Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic ... Huntington's and the Making of a Genetic Disease. Yale University Press. p. 288. ISBN 9780300105025.. ...

https://kn.wikipedia.org/wiki/ಹಂಟಿಂಗ್ಟನ್‌‌ನ_ಕಾಯಿಲೆ

Genetic cuesEdit. One possible method of kin selection is based on genetic cues that can be recognized phenotypically.[9] ... The males were experimentally observed to home in on the sites with the best food in anticipation of females settling in these ... In this way, the degree that a male expresses his sexual display indicates to the female his genetic quality.[9] Zuk and ... In particular, organisms are hypothesized to act in favor of kin depending on their genetic relatedness.[95][96] So, ...

https://en.m.wikipedia.org/wiki/Behavioural_ecology

... evidence that positive experiences to early cannabis use are a significant predictor of late dependence and that genetic ... and preoccupation/anticipation.[45] ...

https://en.m.wikipedia.org/wiki/Cannabis_dependence

"Genetic Welfare Problems of Companion Animals. ufaw.org.uk: Universities Federation for Animal Welfare. Archived from the ... A line of naturally short-tailed (bobtail) Boxers was developed in the United Kingdom in anticipation of a tail docking ban ... "Genetic and Suspect Diseases in the Boxer". Archived from the original on 2006-09-15. Retrieved 2006-09-05.. ... "Genetic Welfare Problems of Companion Animals. ufaw.org.uk: Universities Federation for Animal Welfare. Archived from the ...

https://en.m.wikipedia.org/wiki/Boxer_dog

Genetic polymorphism. Faber & Faber, London. *^ Kenrick, D.T.; Sadalla, E.K.; Groth, G.; Trost, M.R. (1990). "Evolution, traits ... we begin to act in anticipation of a similar stimulus.[49] Thus, we are likely to experience anxiety in an environment with ... Genetic basis of personality[edit]. Ever since the Human Genome Project allowed for a much more in depth understanding of ... genetic influence on personality. The human genome is known to play a role in the development of personality.. Previously, ...

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

In males previously having undergone radiotherapy, there appears to be no increase in genetic defects or congenital ... or even in anticipation of it, but this is considered a psychological response. Nausea for any reason can be treated with ... and can lead to dramatic chromosomal abnormalities and genetic deletions. Targeting double-stranded breaks increases the ... "Genetic and teratogenic effects of cancer treatments on gametes and embryos". Human Reproduction Update. 7 (4): 394-403. doi ...

https://en.m.wikipedia.org/wiki/Radiotherapy

The anticipation of rewards and punishments, as well as the satisfaction of behaving prosocially, account for why agents ... Genetic predisposition: People take on roles that come naturally to them. Those with athletic ability generally take on roles ... Role development can be influenced by a number of additional factors, including social, genetic predisposition, cultural or ...

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

Another key finding was that this is even true for the anticipation of such changes.. ... individual differences in vulnerability arise due to both genetic and psychological factors. In addition, the age at which the ... Other adaptive coping mechanisms include anticipation, altruism, and self-observation. ...

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

For instance, in human beings, the frontal lobes are responsible for foresight and anticipation, and the occipital lobes are ... Distinct genetic, neurochemical and neuroanatomical correlates responsible for each temperamental trait have been observed, ... "Genetic and environmental continuity in personality development: A meta-analysis". Psychological Bulletin. 140 (5): 1303-1331 ...

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

... the study of changes in genetic expression in response to environmental factors which do not alter the underlying DNA, is also ... while others state that it was wrong for them to take their own lives in anticipation of martyrdom.[235] ...

https://en.m.wikipedia.org/wiki/Suicide

However, the United States Mint, in anticipation of this practice, implemented new interim rules on December 14, 2006, subject ... "Helicobacter pylori Virulence and Genetic Geography". Science. 284 (5418): 1328-1333. Bibcode:1999Sci...284.1328C. doi:10.1126/ ...

https://en.m.wikipedia.org/wiki/Nickel

Hypercoagulability or thrombophilia, is caused by, for example, genetic deficiencies or autoimmune disorders. Recent studies ... in anticipation of formal guidelines.[27] ...

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

Genetic studies[edit]. Heritability[edit]. Heritability compares differences in genetic factors in individuals to the total ... 2001). "Neural activity in the human brain relating to uncertainty and arousal during anticipation". Neuron. 29 (2): 537-545. ... Genetic factors accounted for 53% of the variance of an overall score. However, self-identification as Republican and Democrat ... Genetic factors account for at least some of the variation of political views. From the perspective of evolutionary psychology ...

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

Within the context of massive international sequencing efforts, and in anticipation of the new era of precision medicine, The ... Ogilvie, Megan (2008-04-29). "Toronto-based consortium to seek cancer's genetic origins". Toronto Star. Retrieved 2008-04-29. ...

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

anticipation of no win but also, included information from anticipation of small win vs. anticipation of no win when necessary ... Genetic determinants of reward anticipation. Tianye Jia, Christine Macare, Sylvane Desrivières, Dante A. Gonzalez, Chenyang Tao ... Genetic determinants of reward anticipation. Tianye Jia, Christine Macare, Sylvane Desrivières, Dante A. Gonzalez, Chenyang Tao ... Neural basis of reward anticipation and its genetic determinants. Tianye Jia, Christine Macare, Sylvane Desrivières, Dante A. ...

https://www.pnas.org/content/113/14/3879

Anticipation in familial Crohns disease B Grandbastien, M Peeters, D Franchimont, C Gower-Rousseau, D Speckel, P Rutgeerts, J ...

https://gut.bmj.com/keyword/genetic-anticipation

Recent evidence suggests that vHL may exhibit genetic anticipation (GA). The aim of this study was to determine if GA occurs in ... 7 Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada ...

https://jmg.bmj.com/content/55/6/395?fbclid=IwAR1aj4rhB39U2nj7DBj7rg-RGAIJBCqV-zjcS0RW42-h8BW_BQ09dNT7Fjw

Evidence for genetic anticipation in vonHippel-Lindau syndrome Message subject: (Your Name) has forwarded a page to you from ...

https://jmg.bmj.com/content/55/6/395.share

Adjusted analyses led to the same results.These results suggest the presence of genetic anticipation. However, due to a risk of ... of MEN1 manifestations could provide clues for more personalized screening programs.To investigate whether genetic anticipation ...

https://www.onmedica.com/posts/clues-for-genetic-anticipation-in-multiple-endocrine-neoplasia-type-1

... ... In contrast, 21% of early-onset parkinsonism patients without anticipation had parkin mutations. Conclusion: Anticipation is ... 20 years of anticipation. We also studied 28 early-onset parkinsonism cases without anticipation. Patients were diagnosed by ... A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if ...

https://digital.lib.washington.edu/researchworks/handle/1773/15821

Neural basis of reward anticipation and its genetic determinants. Proceedings of the National Academy of Sciences, 113 (14). pp ... including brain activity during reward anticipation. We examined brain nodes engaged by reward anticipation in 1,544 ...

http://eprints.nottingham.ac.uk/42632/

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/

Increased Genetic Privacy in Florida. Florida Politics reports Floridas law barring life, long-term care, and disability ... Home » Research & Discovery » Proteomics & Protein Research » Adarza Shifts Focus to SARS-CoV-2 in Anticipation of Protein ... Adarza Shifts Focus to SARS-CoV-2 in Anticipation of Protein Biosensor Launch. Jun 24, 2020 ... insurers from using genetic information in coverage decisions went into effect at the beginning of July. ...

https://www.genomeweb.com/infectious-disease/adarza-shifts-focus-sars-cov-2-anticipation-protein-biosensor-launch

Pending Supreme Court Eligibility Cases: Patenting Genetic Discovery September 6, 2016. PatentAbstract Idea, anticipation, ... Summary Judgment on Anticipation August 19, 2016. PatentanticipationDennis Crouch Semcon Tech v. Micron (Fed. Cir. 2016) (non- ... Tag Archives: anticipation. Chicken?: Test your Patent Test Taking Skills 2017 December 20, 2016. Patentanticipation, ... Anticipation: The courts review on anticipation of the 605 patent is also interesting as an example of a jury verdict of no ...

https://patentlyo.com/tag/anticipation/page/2

The common polymorphic codon 129 of PRNP also plays an important and complex role in risk and phenotype of sporadic and genetic ... This review will focus on the clinical and histopathologic features of the genetic prion diseases. Selected mutations will be ... make up the known sequence alterations of PRNP associated with genetic prion disease. ... Anticipation. Genetic anticipation has not been demonstrated.. Nomenclature. Spastic pseudosclerosis is an older term used to ...

https://www.nature.com/articles/gim201032?error=cookies_not_supported&code=9dc2d446-1c82-4704-9fbe-542096026269

Genetic anticipation in Swedish Lynch syndrome families.. von Salomé J1, Boonstra PS2, Karimi M3, Silander G4, Stenmark-Askmalm ... However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in ... Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in ... The purpose of this study is to determine whether anticipation can be shown in a nationwide cohort of Swedish LS families ...

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=phg&id=14407

Pingback: 2014 Top Genetic Genealogy Happenings - A Bakers Dozen +1 , DNAeXplained - Genetic Genealogy ... DNAeXplained - Genetic Genealogy. Discovering Your Ancestors - One Gene at a Time. Search. Main menu. Skip to primary content ... 45 thoughts on "In Anticipation of Ancestrys Better Mousetrap" * Margaret Hurley on November 18, 2014 at 6:08 pm. said: ... In Anticipation of Ancestrys Better Mousetrap. Posted on November 18, 2014. by Roberta Estes ...

https://dna-explained.com/2014/11/18/in-anticipation-of-ancestrys-better-mousetrap/?replytocom=51432

The anterior insula has been implicated in both the experience and the anticipation of negative outcomes. Although individual ... Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy ... The anterior insula has been implicated in both the experience and the anticipation of negative outcomes. Although individual ... Individual Differences in Insular Sensitivity During Loss Anticipation Predict Avoidance Learning. Psychological Science, Vol. ...

https://papers.ssrn.com/sol3/papers.cfm?abstract_id=1679508

Genetic anticipation. In this cohort, there were nine families (four with TERT, two with RTEL1 and three with PARN mutations) ... a) Evidence of genetic anticipation with an earlier age of ILD diagnosis for patients in subsequent generations of nine ... We found evidence for genetic anticipation in carriers of TERT and RTEL1 mutations (p=0.003 and p=0.018, respectively), but not ... Genetic mutations in TERT, TERC, RTEL1 and PARN are associated with development of a short telomere syndrome, or "telomeropathy ...

https://erj.ersjournals.com/content/48/6/1710?ijkey=be72e5ff33976a6f7733ea07044a6d0ecf0b3317&keytype2=tf_ipsecsha

https://erj.ersjournals.com/content/48/6/1710

Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a ... A study earlier this year showed that there is evidence of genetic anticipation in the genetic kidney cancer syndrome ... as telomere shortening has been found to cause genetic anticipation in other genetic diseases (Martinez-Delgado et al., 2011). ... Telomere shortening may cause genetic anticipation in VHL syndrome. Posted on 26 Sep 2014. 19 Sep 2014. by Lizzie Perdeaux ...

https://www.bhdsyndrome.org/forum/bhd-research-blog/telomere-shortening-may-cause-genetic-anticipation-in-vhl-syndrome/

We investigate a genetic model of a large population of sexual organisms in a changing environment. The organisms are subject ... We investigate a genetic model of a large population of sexual organisms in a changing environment. The organisms are subject ... Adaptation to slow environmental change, with apparent anticipation of selection J Theor Biol. 2008 May 7;252(1):166-72. doi: ... thereby exhibiting an apparent anticipation of selection. The mechanism underlying this phenomenon is determined from ...

https://pubmed.ncbi.nlm.nih.gov/18289559/?dopt=Abstract

Clues for genetic anticipation in Multiple Endocrine Neoplasia type 1.. Multiple Endocrine Neoplasia type 1 (MEN1) is a rare ... of MEN1 manifestations could provide clues for more personalized screening programs.To investigate whether genetic anticipation ...

https://osumolgen.org/clues-for-genetic-anticipation-in-multiple-endocrine-neoplasia-type-1/

Genetic Anticipation. Genetic anticipation is the observation of earlier age of onset or more severe clinical features in ... Genetic anticipation is associated with telomere shortening in hereditary breast cancer. PLoS Genet. 2011;7(7):e1002182. ... Genetic counselors/experts. Both the NCCN and USPSTF recommend referral to a geneticist or genetic counselor before testing for ... Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force ...

https://www.naturalmedicinejournal.com/journal/2016-07/brca12-involvement-cancer

FAMILIAL ANTICIPATION. The younger age of appearance of a late onset trait in successive generations. A typical effect in ... GENETIC HETEROGENEITY. Process by which a phenotype can be caused by different loci. A complex example is epilepsy, which may ... GENETIC) POLYMORPHISM. Genome segment (locus), within or outside a gene, in which alternate forms (alleles) are present. In ... The genetic constitution of an organism, which is modulated by the environment before being expressed as a phenotype. ...

http://jech.bmj.com/content/57/7/480

Genetic anticipation. MedGen UID: 109454. •Concept ID: C0600498. •. Organism Attribute. Source: HPO ... Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

https://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_bookshelf_cited&from_uid=9618065

Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.. Guindalini RS1,2,3, ... Genetic anticipation, the earlier onset of disease in successive generations, has been reported in hereditary breast and ... Likewise, cohort effect, which may be caused by environmental factors, can be misinterpreted as genetic anticipation. ... ascertainment bias; breast cancer genes 1 and 2 (BRCA1/BRCA2); cohort effect; genetic anticipation; hereditary breast and ...

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=phg&id=11653

We conclude that genetic anticipation might occur in type 2 diabetes.. AB - Background: The term "anticipation" in genetic ... indicating strong evidence of anticipation. We conclude that genetic anticipation might occur in type 2 diabetes. ... "Preliminary evidence of genetic anticipation in type 2 diabetes mellitus",. abstract = "Background: The term {"}anticipation ... indicating strong evidence of anticipation. We conclude that genetic anticipation might occur in type 2 diabetes.", ...

https://uthsc.pure.elsevier.com/en/publications/preliminary-evidence-of-genetic-anticipation-in-type-2-diabetes-m

Anticipation results from two genetic events; a premutation (e.g., insertion of increasing number of the trinucleotide repeat ... Patient discussion about anticipation. Q. Can anyone help us by giving some dietary information to reduce on her stress? Thank ... anticipation. [antis′ipā′shən] an appearance before the expected time of a periodic sign or symptom. Examples are a malarial ... anticipation. (redirected from Dynamic mutation). Also found in: Dictionary, Thesaurus, Legal, Financial, Encyclopedia, ...

https://medical-dictionary.thefreedictionary.com/Dynamic+mutation

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). ... "Genetic anticipation in Behçets syndrome". Ann Rheum Dis. 57: 45-48. doi:10.1136/ard.57.1.45. PMC 1752455. PMID 9536823. ...

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

Mismatch Repair Gene Deficiency and Genetic Anticipation in Lynch Syndrome: Myth or Reality?. Ponti, Giovanni; Ruini, Cristel; ...

https://journals.lww.com/dcrjournal/toc/2015/01000

A genetic study of Hodgkins lymphoma: An estimate of heritability and anticipation based on the familial cancer database in ... T1 - A genetic study of Hodgkins lymphoma. T2 - An estimate of heritability and anticipation based on the familial cancer ... A genetic study of Hodgkins lymphoma: An estimate of heritability and anticipation based on the familial cancer database in ... A genetic study of Hodgkins lymphoma : An estimate of heritability and anticipation based on the familial cancer database in ...

https://miami.pure.elsevier.com/en/publications/a-genetic-study-of-hodgkins-lymphoma-an-estimate-of-heritability-

Important in genetic counseling of people with trinucleotide repeat mutations. Anticipation. Earlier pattern of disease per ...

https://www.brainscape.com/flashcards/patho-genetic-disorders-3771134/packs/4628046

Neural basis of reward anticipation and its genetic determinants.. Jia T, Macare C, Desrivières S, Gonzalez DA, Tao C, Ji X, ... Ventral Striatum Connectivity During Reward Anticipation in Adolescent Smokers.. Jollans L, Zhipeng C, Icke I, Greene C, Kelly ... Genetic Influence on the Sulcal Pits: On the Origin of the First Cortical Folds. ... Impact of a Common Genetic Variation Associated With Putamen Volume on Neural Mechanisms of Attention-Deficit/Hyperactivity ...

https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Frouin+V%5Bau%5D&dispmax=50

The purpose of this study is to determine whether anticipation can be shown in a nationwide cohort of Swedish LS families referred to the regional departments of clinical genetics in Lund, Stockholm, Linköping, Uppsala and Umeå between the years 1990-2013. (cdc.gov)
Hence, we encourage the interested reader to further "explore" the classic bibliography on genetics and genetic epidemiology 2- 5 to complete their knowledge on this topic. (bmj.com)
Clinical aspects of genetic disease and current issues in medical genetics. (redlands.edu)
In genetics, anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation. (wikipedia.org)
The much-hyped genetics startup 23andMe, for instance, will analyze nearly 600,000 genetic markers for just $399. (cnn.com)
Principles were sought primarily in Polymerase chain reaction (PCR), a basic molecular genetics technique, but the search was open to all molecular genetics techniques, used for diagnosis of the presence of genetic mutation(s). (triz-journal.com)
The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene map and the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context. (oup.com)

In contrast, 21% of early-onset parkinsonism patients without anticipation had parkin mutations. (washington.edu)
Genetic mutations in telomere related genes lead to a variety of interstitial lung disease (ILD) diagnoses that are universally progressive. (ersjournals.com)
Important in genetic counseling of people with trinucleotide repeat mutations. (brainscape.com)
Mutations in several different genes can result in a similar phenotype of HSP and this phenomenon is known as genetic heterogeneity. (encyclopedia.com)
the key genetic parameters are the mutation rate Θ and the variance of the effects of new mutations, ω. (genetics.org)

Such impairments might involve different components of the reward process, including brain activity during reward anticipation. (nottingham.ac.uk)
We examined brain nodes engaged by reward anticipation in 1,544 adolescents and identified a network containing a core striatal node and cortical nodes facilitating outcome prediction and response preparation. (nottingham.ac.uk)
Previous research has been limited to very selected brain structures, whereas this study is the largest and most comprehensive analysis to date of brain activity during reward anticipation. (kcl.ac.uk)
Using data collected by IMAGEN, a large European research project led by King's College London, the researchers examined brain regions engaged by reward anticipation in 1,544 adolescents. (kcl.ac.uk)
Reward anticipation was assessed through brain scans of adolescents during a task where cues indicate that either no reward, a small reward or a large reward might be won during the trial. (kcl.ac.uk)

The aim of this study was to determine if anticipation was due to parkin mutation dosage. (washington.edu)
Anticipation typically occurs with disorders that are caused by an unusual type of mutation called a trinucleotide repeat expansion. (medlineplus.gov)
A prion protein gene ( PRNP ) disease-causing mutation (see molecular genetic testing, Fig. 1 and Table 3 ). (nature.com)
Anticipation is common in trinucleotide repeat disorders, such as Huntington's disease and myotonic dystrophy, where a dynamic mutation in DNA occurs. (wikipedia.org)
In 1993, the genetic mutation causing HD was discovered. (utmb.edu)
Furthermore, the genetic mutation of HD was experimentally introduced into animals. (utmb.edu)
Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. (bireme.br)
Then, when a 43-year-old colleague was diagnosed with breast cancer, she had genetic testing and learned that she did not have the gene mutation. (momentmag.com)
Researchers reported that it explains from 20 to 67 percent of familial amyotrophic lateral sclerosis (ALS), depending on the population studied, making it the most prevalent genetic mutation in the disease. (alzforum.org)

Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in heritable cancer. (cdc.gov)
This review will focus on the clinical and histopathologic features of the genetic prion diseases. (nature.com)
Genetic prion diseases constitute a continuum of clinical and pathologic manifestations broadly segregated into three principal phenotypes designated as familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and familial fatal insomnia (FFI). (nature.com)
Background: The term "anticipation" in genetic diseases refers to earlier age at onset and/or increased severity in successive generations. (elsevier.com)
Several diseases with genetic anticipation include rheumatoid arthritis, Crohn's disease, Schizophrenia, Graves' disease and several other neuropsychiatric disorders. (elsevier.com)
How can genetic diseases be described? (brainscape.com)
A simple blood draw could unveil a treasure trove of genetic data, including all the possible diseases we carry. (theatlantic.com)
Diseases showing anticipation include: Autosomal dominant Several spinocerebellar ataxias Huntington's disease - CAG Myotonic dystrophy - CTG Dyskeratosis congenita - TTAGGG (telomere repeat sequence) Autosomal recessive Friedreich ataxia - GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal recessive disorder. (wikipedia.org)
In our last issue, we wrote about genetic diseases that affect those of Jewish ancestry. (momentmag.com)
These polyglutamine diseases share similar features, including expanded CAG repeats within translated exons, anticipation, and regionally specific CNS pathology. (jneurosci.org)
His genetic research identified the genetic basis of 25 major inheritable diseases and clarified the understanding of "anticipation" in triplet repeat diseases. (sc.edu)
CTG trinucleotide repeat sequences has been identified as the genetic cause of several human diseases, including myotonic dystrophy type 1, Huntington disease, and an ever-increasing number of spinocerebellar ataxias. (gla.ac.uk)
Genetic Predispositions to Diseases Genes are bits of chemical information that determine our characteristics, by carrying hereditary traits from one generation to the next, including everything from eye color to diseases. (howstuffworks.com)
Genetic Diseases The risk of a genetic disease increases if both parents carry the dysfunctional, abnormal gene, even if they are nonsymptomatic carriers. (howstuffworks.com)

The results also suggest an onset and progression pattern of the disease that is compatible with the phenomenon of anticipation. (diabetesjournals.org)
This underlies the phenomenon of anticipation, whereby the disease becomes progressively earlier in onset in successive generations due to expansion of the repeat. (genetics.org)

More insight into factors influencing the age-related penetrance of MEN1 manifestations could provide clues for more personalized screening programs.To investigate whether genetic anticipation plays a role in the largest known MEN1 families in the Netherlands.All Dutch MEN1 families with ≥ ten affected members in ≥ two successive generations were identified. (onmedica.com)
Researchers study multiple generations of affected family members and consider the genetic cause of a disorder before determining that it shows anticipation. (medlineplus.gov)
However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, has been suggested in LS. (cdc.gov)
Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. (bhdsyndrome.org)
As telomere length lies on a spectrum, it could be that telomere length must fall below a certain threshold before genetic anticipation between generations becomes evident. (bhdsyndrome.org)
Genetic anticipation, the earlier onset of disease in successive generations, has been reported in hereditary breast and ovarian cancer syndrome (HBOC), but little is known about its underlying mechanisms. (cdc.gov)
The phenomenon of an expanding trinucleotide repeat in successive generations is called anticipation. (encyclopedia.com)
The tendency of the disease to become more severe with successive generations, called anticipation, was recognized by Fleischer in 1918. (yale.edu)

A subset of familial PD exhibits anticipation, the cause of which is unknown. (washington.edu)
Previous studies have implicated a genetic etiology responsible for familial HL. (elsevier.com)
CONCLUSIONS -Our data indicate that both familial (possibly genetic) and metabolic factors affect the age of onset of type 2 diabetes in the Chinese population. (diabetesjournals.org)

The first glossary, on basic molecular genetic terms, 1 provided the basis to understand the concepts presented here. (bmj.com)
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. (nature.com)
One common scheme is based on genetic features, including mode of inheritance and molecular genetic data. (medscape.com)

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)
The Myotonic Dystrophy Foundation describes anticipation in the context of myotonic dystrophy . (medlineplus.gov)

LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years/generation for NREM and hazard ratio of 1.33 for COX-R) and PMS2 (7.3 years/generation and hazard ratio of 1.86). (cdc.gov)
We then consider the evidence from genetic studies, including investigations of gene by environment (GxE) interactions and epigenetic effects in humans and animals, relating these to possible mechanisms associated with vulnerability and resilience. (frontiersin.org)
With public safety, gene patents, and the future of genetic research at stake, a wide range of interest groups competed for control over this powerful new technology. (uchicago.edu)
Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR. (elsevier.es)
Each genetic trait has two genes, which might be identical or might include one gene that is dominant and one that is recessive. (howstuffworks.com)
By combining studies of tissue-specific gene expression, male courtship song, low-dose fungal infections and immune gene knockdowns assays, the authors hope to identify the genetic links between brain, behaviour and immunity. (phys.org)

To test the hypothesis of anticipation, the usual T-test procedure was used to test whether there was a difference in cancer age-of-onset between parents and children who were affected with HL. (elsevier.com)

The common polymorphic codon 129 of PRNP also plays an important and complex role in risk and phenotype of sporadic and genetic prion disease. (nature.com)
The genetic constitution of an organism, which is modulated by the environment before being expressed as a phenotype. (bmj.com)
Since substantial variation in the phenotype is observed for different populations, epigenetic/genetic and/or environmental factors must exert a significant impact on the penetrance of the disease. (diva-portal.org)

Several murine genetic models of Huntington's disease (HD) have been developed. (jneurosci.org)

Most genetic disorders have signs and symptoms that differ among affected individuals, including affected people in the same family. (medlineplus.gov)
Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. (nih.gov)
Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. (wikipedia.org)
There are numerous types of autosomal-dominant cerebellar ataxias There are five typical autosomal recessive disorders in which ataxia is a prominent feature A few SCAs remain unspecified and can not be precisely diagnosed, but in the last decade genetic testing has allowed precise identification of dozens of different SCAs and more tests are being added each year. (wikipedia.org)
This genetic mechanism may explain how dopamine levels increase when people anticipate a reward and why problems with reward processing are found in people with various mental disorders, including attention deficit hyperactivity disorder (ADHD) and addictions such as alcohol abuse. (kcl.ac.uk)
Professor Gunter Schumann , senior author of the paper from the MRC Social, Genetic and Developmental Psychiatry (SGDP) Centre at the Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King's College London, and Coordinator of the IMAGEN project, said: 'We already know that reward-related disorders, such as ADHD and alcohol abuse, often occur simultaneously. (kcl.ac.uk)
The better known genetic disorders include sickle cell anemia, Tay-Sachs disease, and cystic fibrosis, which are more prevalent among certain demographic groups. (howstuffworks.com)
First are classic descriptions of important genetic disorders, often from the pre-mendelian era. (oup.com)
An unconventional approach has successfully reversed deficits in social behaviors associated with autism spectrum disorders (ASD) in genetic, environmental and idiopathic mouse models of the condition. (neurosciencenews.com)

Genetic anticipation is associated with telomere shortening in hereditary breast cancer. (bhdsyndrome.org)

Indeed, The Cancer in our Genes International Databank for hereditary kidney cancers may be able to identify families showing genetic anticipation, allowing further research into this phenomenon. (bhdsyndrome.org)
Thus, for every genetic trait, there are two genes. (howstuffworks.com)
By analysing the genetic make-up and immunity of over 100,000 fruit flies the scientists were able to understand how genes are switched on and off in order to prevent infections. (phys.org)

These findings contribute to the emerging literature on the genetic determinants of economic behavior. (ssrn.com)

Therefore, reliance on these studies for the diagnosis of genetic prion disease is cautioned. (nature.com)
Prior to the understanding of the genetic mechanism for anticipation, it was debated whether anticipation was a true biological phenomenon or whether the earlier age of diagnosis was related to heightened awareness of disease symptoms within a family. (wikipedia.org)
The purpose of this work was to revise and clarify consensus criteria for the diagnosis of RTT in anticipation of treatment trials. (rettsyndrome.org)

The Merck Manual Professional Version provides a brief explanation of anticipation as part of its chapter on nontraditional inheritance . (medlineplus.gov)

Thus more data are required in order to determine how common genetic anticipation is in VHL, HLRCC and other related syndromes like BHD, and what the underlying mechanism is. (bhdsyndrome.org)
A tendency of a disease to cluster in families, which is generally taken as evidence for the existence of a genetic aetiological mechanism, or environmental factors common to family members, or a combination of both. (bmj.com)

If no telomere shortening was seen in these families, this would strengthen the hypothesis that telomere shortening causes genetic anticipation in families with VHL. (bhdsyndrome.org)
We have estimated the heritability of HL and tested the hypothesis of genetic anticipation by using a high quality cancer database of the Swedish population. (elsevier.com)

Herein, we briefly summarize clinical and genetic aspects of this aggressive cancer predisposition syndrome. (aacrjournals.org)
Some commercial tests for moderate/low cancer risk genetic predisposition are not verified/supported by independent experts or scientific evidence. (wordpress.com)

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)
All of these families showed earlier age of disease onset in the younger generation, suggesting that shortened telomere length is associated with genetic anticipation in VHL. (bhdsyndrome.org)
Conclusions: Patients in the second affected generation seem to acquire the disease at an earlier time in life, indicating strong evidence of anticipation. (elsevier.com)
Some families show a pattern of disease called anticipation, with symptoms developing earlier in each new generation. (encyclopedia.com)
As we said in an earlier discussion, genetic diversity is important because it allows plants to adapt to changing environments. (garden.org)
Interestingly, the different populations all display a maternal anticipation, where an earlier onset is observed for those individuals who inherit the trait from their mother. (diva-portal.org)

citation needed] Many types of autosomal dominant cerebellar ataxias for which specific genetic information is available are now known. (wikipedia.org)

Clinical and genetic characteristics of hereditary pancreatitis in Europe," Clinical Gastroenterology and Hepatology , vol. 2, no. 3, pp. 252-261, 2004. (hindawi.com)
We conclude by exploring the extent to which the growing evidence base in relation to neurobiological and genetic research may be relevant to clinical practice and intervention. (frontiersin.org)
With sub-specialties in glaucoma, cataract, paediatric and genetic ophthalmology and clinical electrophysiology, Prof. Grigg completed his training at Sydney Eye Hospital and undertook fellowships in Australia and the UK.His research interests are genetic eye disease, glaucoma management and electrophysiology of the visual system. (edu.au)

In 2017, Dr. Gregg was invited before Congress to give expert briefing on advances in prenatal genetic screening on behalf of ACMG. (sc.edu)

The aim of the present study was to investigate whether genetic anticipation may occur in diabetes. (elsevier.com)
We investigate a genetic model of a large population of sexual organisms in a changing environment. (nih.gov)

Conclusion: Anticipation is not linked to parkin, and may signify a distinct disease entity. (washington.edu)
Single base pair changes, or the insertion of one or more multiples of a 24 base pair repeat segment, make up the known sequence alterations of PRNP associated with genetic prion disease. (nature.com)
In addition, a Huntington disease phenocopy known as Huntington disease like-1 (HDL-1) has been described in a family with genetic prion disease ( Tables 1 and 2 ). (nature.com)
Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families. (bhdsyndrome.org)
We propose that short telomeres in mice that have normal telomerase levels can cause an occult form of genetic disease. (nih.gov)
If genetic testing could diagnose the disease why couldn't it prevent it altogether? (theatlantic.com)
They also could find out the probability of passing along a genetic disease like cystic fibrosis to their children, or uncover interesting details about their ancestry. (cnn.com)
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. (wikipedia.org)
Some degree of genetic anticipation in regards to the age of onset and disease severity has been noted in DYT1. (medscape.com)
The mitochondrial DNA is a non-nuclear DNA, which is entirely maternally inherited, and therefore could be related to the observed maternal anticipation of the disease. (diva-portal.org)
The genetic basis for the disease was elicited in 1992. (yale.edu)

Located at position 21 of the long arm of chromosome 17 (17q21), BRCA1 was the first genetic aberration to be implicated in HBOC. (naturalmedicinejournal.com)
Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect. (cdc.gov)

What do geneticists mean by anticipation? (medlineplus.gov)
When the genetic portion came back with her testing positive for a scary sounding condition, the Embark geneticists sent a personalized email before releasing the results, letting me know things weren't as bad as it sounded, and explaining further about the condition (including the breed of dog that it typically cause the most issues with) Had I just opened my results and seen this condition I would have PANICKED! (amzn.com)

Flatley envisions the app as a handy way to access genetic information when visiting a physician or genetic counselor. (cnn.com)
Given my family history and my Ashkenazic background, my doctor referred me to a genetic counselor for screening for the test. (momentmag.com)
USC School of Medicine, Arnold School of Public Health and College of Arts & Sciences hosts annual lectures and learning opportunities that complement genetic counselor education. (sc.edu)

Methods: We studied 19 kindreds that had early-onset parkinsonism in the offspring generation, late-onset parkinsonism in the parent generation, and = 20 years of anticipation. (washington.edu)
We also studied 28 early-onset parkinsonism cases without anticipation. (washington.edu)
Combined dystonias, accompanied by parkinsonism with known genetic loci include TAF1/DYT3, GCH1/DYT5a, TH/DYT5b, and ATP1A3/DYT12. (medscape.com)

Genetic anticipation in Swedish Lynch syndrome families. (cdc.gov)
Before genetic screening, babies with the disorder usually died, often misdiagnosed as Reye's syndrome or SIDS. (theatlantic.com)
As well as potential genetic causes, other antibiotics can work in conjunction with vancomycin and increase the risk of Redman syndrome. (wisegeek.com)

By combining methods from political science and the history of science, Wright advances a provocative interpretation of the evolution of genetic engineering policy and makes a major contribution to science and public policy studies. (uchicago.edu)

Adjusted analyses led to the same results.These results suggest the presence of genetic anticipation. (onmedica.com)

Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis- acting elements or trans- acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. (nature.com)
This reluctance was soon dispelled as the logic underlying genetic investigations became increasingly evident. (nobelprize.org)

What are genetic modifiers? (brainscape.com)
We further performed an unbiased genetic screen for novel modifiers of instability. (genetics.org)

Likewise, cohort effect, which may be caused by environmental factors, can be misinterpreted as genetic anticipation. (cdc.gov)
The analyses were further controlled for ascertainment bias by excluding probands and adjusting for birth-cohort effect in the anticipation models. (cdc.gov)

Recent evidence suggests that vHL may exhibit genetic anticipation (GA). The aim of this study was to determine if GA occurs in vHL, and if telomere shortening may be a factor in GA. (bmj.com)
This dosage pattern suggests that some parkin families should exhibit intergenerational variation in age at onset resembling anticipation. (washington.edu)
In this way, the trait generally tracks the moving optimum, but in such a case, the population may exhibit periods of time where the mean trait value overshoots the moving optimal trait value, thereby exhibiting an apparent anticipation of selection. (nih.gov)

Case in point… just very recently , when dealing with this exact same Miller line, I discovered that I did match one of my cousins at Family Tree DNA on the Miller line, but that we also have a second unknown genetic link on the X chromosome that could not have come from that Miller couple. (dna-explained.com)

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)
Fig. 6: Interaction between environmental and genetic factors and its impact on genomic imprinting. (nature.com)
Anticipation of acclimatization seems to require a sense of time by which the coming environmental conditions can be predicted. (britannica.com)
Metal(loid)s role in the pathogenesis of amyotrophic lateral sclerosis: Environmental, epidemiological, and genetic data. (medworm.com)
The causes of ASD could be of genetic, environmental or idiopathic origin, Costa-Mattioli explains, and there are mouse models mimicking each of these condition. (neurosciencenews.com)

Doctors may actually give patients antihistamines before vancomycin treatment in anticipation of this immune system activation. (wisegeek.com)
The key next step in this research is to identify the genetic pathways which underlie immune anticipation. (phys.org)

In order to conclusively define the role of telomere shortening in VHL, it would be interesting to measure telomere length in those VHL families that do not show genetic anticipation. (bhdsyndrome.org)
However, this would not explain why some VHL families get telomere shortening and subsequently show genetic anticipation, and other families do not. (bhdsyndrome.org)

We conclude that genetic anticipation might occur in type 2 diabetes. (elsevier.com)
Does genetic anticipation occur? (semanticscholar.org)

Morriss found herself pondering the genetic nature of the disorder. (theatlantic.com)
I was looking at several tests (both more and less expensive than this one) and decided on Embark because of the genetic disorder portion of the text. (amzn.com)

In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. (wikipedia.org)

Genetic or Genomic Counseling? (sc.edu)

These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (encyclopedia.com)
It would involve chromosomes and their genetic content and expressions, in short, cytogenetics. (nobelprize.org)

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