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Advanced Sleep Phase Disorder
Advanced Sleep Phase Disorder (ASPD), also known as the advanced sleep-phase type (ASPT) of circadian rhythm sleep disorder, is a condition that is characterized by a recurrent pattern of early evening (e.g. 7-9 PM) sleepiness and very early morning awakening (e.g. 2-4 AM). This sleep phase advancement can interfere with daily social and work schedules, and results in shortened sleep duration and excessive daytime sleepiness. The timing of sleep and melatonin levels are regulated by the body's central circadian clock, which is located in the suprachiasmatic nucleus in the hypothalamus. Symptoms Individuals with ASPD report being unable to stay awake until conventional bedtime, falling asleep too quickly and/or early in the evening, and being unable to stay asleep until their desired waking time, experiencing early morning insomnia. When someone has advanced sleep phase disorder their melatonin levels and core body temperature cycle hours earlier than an average person. These sympt ...
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Chronobiology
Chronobiology is a field of biology that examines timing processes, including periodic (cyclic) phenomena in living organisms, such as their adaptation to solar- and lunar-related rhythms. These cycles are known as biological rhythms. Chronobiology comes from the ancient Greek χρόνος (''chrónos'', meaning "time"), and biology, which pertains to the study, or science, of life. The related terms ''chronomics'' and ''chronome'' have been used in some cases to describe either the molecular mechanisms involved in chronobiological phenomena or the more quantitative aspects of chronobiology, particularly where comparison of cycles between organisms is required. Chronobiological studies include but are not limited to comparative anatomy, physiology, genetics, molecular biology and behavior of organisms related to their biological rhythms. Other aspects include epigenetics, development, reproduction, ecology and evolution. The subject Chronobiology studies variations of t ...
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Familial Sleep Traits
Familial sleep traits are heritable variations in sleep patterns, resulting in abnormal sleep-wake times and/or abnormal sleep length. Circadian rhythms are coordinated physiological and biological changes that oscillate on an approximately 24-hour cycle. Disruptions to these rhythms in humans may affect the duration, onset, and/or quality of sleep during this cycle, resulting in familial sleep traits. These traits are not necessarily syndromes because they do not always cause distress among individuals. Instead of being disorders, familial sleep traits are variations in an individual's biological tendencies of sleep-wake times, and are only considered syndromes if affected individuals complain about life interference, in which case they may fall under the category of Circadian Rhythm Sleep Disorders (CRSD) that affect sleep timing and circadian rhythms. Some of these circadian disorders include Advanced Sleep Phase Disorder (ASPD) and Delayed Sleep Phase Disorder (DSPD). Familial ...
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PER2
PER2 is a protein in mammals encoded by the ''PER2'' gene. ''PER2'' is noted for its major role in circadian rhythms. Discovery The ''per ''gene'' ''was first discovered using forward genetics in '' Drosophilla melanogaster'' in 1971. Mammalian Per2 was discovered by in 1997 through a search for homologous cDNA sequences to PER1. It is more similar to Drosophila '' per'' than its paralogs. Later experiments in also identified ''Per2 ''in humans. Function ''PER2'' is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian clock, which regulates the daily rhythms of locomotor activity, metabolism, and behavior. Circadian expression of these genes and their encoded proteins in the suprachiasmatic nucleus. Human PER2 is involved in human sleep disorders and cancer formation. Lowered ''PER2'' expression is common ...
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Casein Kinase 1
The Casein kinase 1 family () of protein kinases are serine/threonine-selective enzymes that function as regulators of signal transduction pathways in most eukaryotic cell types. CK1 isoforms are involved in Wnt signaling pathway, Wnt signaling, circadian rhythms, nucleo-cytoplasmic shuttling of transcription factors, DNA repair, and DNA transcription. Discovery By the early 1950s it was known from metabolic labeling studies using radioactive phosphate that phosphate groups attached to phosphoproteins inside cells can sometimes undergo rapid exchange of new phosphate for old. In order to perform experiments that would allow isolation and characterization of the enzymes involved in attaching and removing phosphate from proteins, there was a need for convenient Substrate (biochemistry), substrates for protein kinases and phosphatase, protein phosphatases. Casein has been used as a substrate since the earliest days of research on protein phosphorylation. By the late 1960s, CAMP-depende ...
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Ying-Hui Fu
Ying-Hui Fu () is a Taiwanese-American biologist and human geneticist who has made important contributions to understanding the genetics of many neurological disorders. Her chief discoveries include describing Mendelian sleep phenotypes, identifying causative genes and mutations for circadian rhythm disorders, and characterizing genetic forms of demyelinating degenerative disorders. Fu is currently a professor of neurology at the University of California, San Francisco. She was elected to the US National Academy of Sciences in 2018. Background and education Early career In 1980, Fu received a degree in food science from National Chung Hsing University in Taiwan. In her study of food sciences, she was introduced to biochemistry and microbiology, which led her to study DNA manipulation. She then received her Ph.D. in biochemistry and molecular biology from Ohio State University in 1986. She continued to work at OSU for three more years in a post-doctoral position studying gene ...
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Neuroscience Of Sleep
The neuroscience of sleep is the study of the neuroscience, neuroscientific and Physiology, physiological basis of the nature of sleep and its functions. Traditionally, sleep has been studied as part of psychology and medicine. The study of sleep from a neuroscience perspective grew to prominence with advances in technology and the proliferation of neuroscience research from the second half of the twentieth century. The importance of sleep is demonstrated by the fact that organisms daily spend hours of their time in sleep, and that sleep deprivation can have disastrous effects ultimately leading to death in animals. For a phenomenon so important, the purposes and mechanisms of sleep are only partially understood, so much so that as recently as the late 1990s it was quipped: "The only known function of sleep is to cure sleepiness". However, the development of improved imaging techniques like EEG, Positron emission tomography, PET and fMRI, along with Moore's law, faster computers h ...
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Phyllis C
Phyllis or Phillis is a feminine given name of Greek origin meaning ''foliage''. Phyllis is a minor figure in Greek mythology who killed herself in despair when Demophon of Athens did not return to her and who was transformed into an almond tree by the gods. Phillida, Phyllicia, and Phyllida are all variants of the name. Usage The name has been in use since the 1600s when, often spelled Phillis, it was used by English poets John Wilmot, Earl of Rochester and Matthew Prior. African-born American poet Phillis Wheatley (1753–1784), who was captured and enslaved in the United States and was later freed, was named Phillis by her enslavers after the slave ship on which she arrived. Phillis was a popular name for women among the population of enslaved women in the United States. In the spelling Phyllis, the name was popularized in the late 1800s after it was used by bestselling popular Irish novelist Margaret Wolfe Hungerford for the heroine of her 1877 romantic novel Phyllis, ...
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Pedigree Chart
A pedigree chart is a diagram that shows the occurrence of certain traits through different generations of a family, most commonly for humans, show dogs, and race horses. Definition The word pedigree is a corruption of the Anglo-Norman French ''pé de grue'' or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a Crane (bird), crane or because such a mark was used to denote succession in pedigree charts. A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown, a diamond is used. Someone with the phenotype (trait) in question is repre ...
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Morningness–eveningness Questionnaire
The morningness–eveningness questionnaire (MEQ) is a self-assessment questionnaire developed by researchers James A. Horne and Olov Östberg in 1976. Its main purpose is to measure whether a person's circadian rhythm (biological clock) produces peak alertness in the morning, in the evening, or in between. The original study showed that the subjective time of peak alertness correlates with the time of peak body temperature; morning types ( early birds) have an earlier temperature peak than evening types ( night owls), with intermediate types having temperature peaks between the morning and evening chronotype groups. The MEQ is widely used in psychological and medical research and has been professionally cited more than 4,000 times. MEQ questions The standard MEQ consists of 19 multiple-choice questions, each having four or five response options. Some example questions are: Responses to the questions are combined to form a composite score that indicates the degree to which the ...
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Actigraphy
Actigraphy is a non-invasive method of monitoring human rest/activity cycles. A small actigraph unit, also called an actimetry sensor, is worn for a week or more to measure gross motor activity. The unit is usually in a wristwatch-like package worn on the wrist. The movements the actigraph unit undergoes are continually recorded and some units also measure light exposure. The data can be later read to a computer and analysed offline; in some brands of sensors the data are transmitted and analysed in real time. Purpose Sleep Sleep actigraphs are generally watch-shaped and worn on the wrist of the non-dominant arm for adults and usually on the ankle for children. They are useful for determining sleep patterns and circadian rhythms and may be worn for several weeks at a time. In the medical setting, traditional polysomnography has long been cited as "the 'gold standard' for sleep assessment." Since the 1990s, however, actigraphy has increasingly been used to assess sleep/wake ...
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Louis Ptáček
Louis Ptáček is an American neurologist and professor of Czech origin. He contributed to the field of genetics and neuroscience. He was also an HHMI investigator from 1997 to 2018. His chief areas of research include the understanding of inherited Mendelian disorders and circadian rhythm genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics in University of California, San Francisco, School of Medicine. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations. Background and education In 1982, Louis Ptáček earned his Bachelor of Science degree in mathematics from the University of Wisconsin-Madison. In 1986, he received his Doctor of Medicine degree from the University of Wisconsin-Madison Medical School. During his neurology residency at University of Utah, he met a 28-year-old fem ...
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Phase Response Curve
A phase response curve (PRC) illustrates the transient change (phase response) in the cycle period of an oscillation induced by a perturbation as a function of the phase at which it is received. PRCs are used in various fields; examples of biological oscillations are the heartbeat, circadian rhythms, and the regular, repetitive firing observed in some neurons in the absence of noise. In circadian rhythms In humans and animals, there is a regulatory system that governs the phase relationship of an organism's internal circadian clock to a regular periodicity in the external environment (usually governed by the solar day). In most organisms, a stable phase relationship is desired, though in some cases the desired phase will vary by season, especially among mammals with seasonal mating habits. In circadian rhythm research, a PRC illustrates the relationship between a chronobiotic's time of administration (relative to the internal circadian clock) and the magnitude of the treatment' ...
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