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188 relations: Acetyl-CoA, Action potential, Adenosine triphosphate, Agenesis of the corpus callosum, Alternative splicing, Amino acid, Amniocentesis, Amniotic fluid, Antioxidant, Apolipoprotein E, Attention deficit hyperactivity disorder, Autism, Autosome, Base pair, Bile acid, BioCyc database collection, Biomarker, Birth defect, Blood–brain barrier, British Isles, Catalysis, Cell growth, Cell membrane, Cell nucleus, Cellular differentiation, Central nervous system, Cerebral cortex, Cerebral hemisphere, Cholesterol, Chorionic villus sampling, Chromosome 11, Cleft lip and cleft palate, Colorimetry (chemical method), Corpus callosum, Covalent bond, Cranial nerves, Craniofacial, Cytochrome P450, Cytokine, David Weyhe Smith, Dendrite, Desmosterol, Developmental disability, Diagnostic and Statistical Manual of Mental Disorders, Dietary supplement, Dominance (genetics), Double bond, Drug resistance, Electrospray ionization, Embryonic stem cell, ..., Endoplasmic reticulum, Enzyme, Enzyme inhibitor, Epicanthic fold, Ester, Estriol, Estrogen, Excretion, Exocytosis, Exon, Farnesyl pyrophosphate, Feedback, Frontal lobe, Gamma-Aminobutyric acid, Gas chromatography, Gene, Gene expression, Gene knockout, Genetic carrier, Genotype, Gestation, Glucocorticoid, Glutamic acid, Granule (cell biology), Hedgehog signaling pathway, Hemangioma, Hippocampus, HMG-CoA, HMG-CoA reductase, Holoprosencephaly, Homologous recombination, Human embryogenesis, Hypocholesterolemia, Hypoplasia, Immunoglobulin E, Inborn errors of metabolism, Incidence (epidemiology), Infection, Integral membrane protein, Intellectual disability, Intracellular, Ion channel, Irritability, Isoelectric point, Isopentenyl pyrophosphate, John M. Opitz, Lanosterol, Lathosterol, Liebermann–Burchard test, Ligand (biochemistry), Lipid, Lipid bilayer, Lipid peroxidation, Lipid raft, Mast cell, Membrane fluidity, Membrane transport, Messenger RNA, Mevalonate pathway, Mevalonic acid, Microcephaly, Micrognathism, Mineralocorticoid, Miscarriage, Missense mutation, Model organism, Molecular mass, Mouse, Mutation, Myelin, N-Methyl-D-aspartic acid, Nervous system, Neuroglia, Neuron, Neurosteroid, Neurotransmitter, Nicotinamide adenine dinucleotide phosphate, Nuclear envelope, Nuclear receptor, Nucleotide, Null allele, Organelle, Oxidative stress, Oxysterol, Particle beam, Peripheral nervous system, Phenotype, Photosensitivity, Photosensitivity in humans, Placenta, Polydactyly, Pregnadiene, Prenatal testing, Protein, Protein kinase C, Proteolysis, Ptosis (eyelid), Reactive oxygen species, Receptor (biochemistry), Regulation of gene expression, Self-harm, Sensory processing disorder, Sequence motif, Serotonergic, Serotonin, Sex steroid, Signal transduction, Simvastatin, Sonic hedgehog, Specificity constant, Sphingolipid, Squalene, Steroid, Sterol, Substrate (chemistry), Synaptic vesicle, Syndactyly, Teratology, Testosterone, Threonine, Time-of-flight mass spectrometry, Transcription (biology), Transcription factor, Translation (biology), Transmembrane domain, Tyrosine kinase, Ultraviolet, Ultraviolet–visible spectroscopy, Unified atomic mass unit, Ventricular system, Vesicle (biology and chemistry), Vitamin E, Zygosity, Zymosterol, 5-HT receptor, 7-Dehydrocholesterol, 7-Dehydrocholesterol reductase, 7-Dehydrodesmosterol. Expand index (138 more) »
Acetyl-CoA
Acetyl-CoA (acetyl coenzyme A) is a molecule that participates in many biochemical reactions in protein, carbohydrate and lipid metabolism.
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Action potential
In physiology, an action potential occurs when the membrane potential of a specific axon location rapidly rises and falls: this depolarisation then causes adjacent locations to similarly depolarise.
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Adenosine triphosphate
Adenosine triphosphate (ATP) is a complex organic chemical that participates in many processes.
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Agenesis of the corpus callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum.
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Alternative splicing
Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins.
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Amino acid
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
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Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
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Amniotic fluid
The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid Amniote.
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Antioxidant
Antioxidants are molecules that inhibit the oxidation of other molecules.
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Apolipoprotein E
Apolipoprotein E (ApoE) is a class of proteins involved in the metabolism of fats in the body.
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Attention deficit hyperactivity disorder
Attention-deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type.
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Autism
Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Base pair
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
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Bile acid
Bile acids are steroid acids found predominantly in the bile of mammals and other vertebrates.
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BioCyc database collection
The BioCyc database collection is an assortment of organism specific Pathway/ Genome Databases (PGDBs).
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Biomarker
A biomarker, or biological marker, generally refers to a measurable indicator of some biological state or condition.
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Birth defect
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
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Blood–brain barrier
The blood–brain barrier (BBB) is a highly selective semipermeable membrane barrier that separates the circulating blood from the brain and extracellular fluid in the central nervous system (CNS).
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British Isles
The British Isles are a group of islands off the north-western coast of continental Europe that consist of the islands of Great Britain, Ireland, the Isle of Man and over six thousand smaller isles.
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Catalysis
Catalysis is the increase in the rate of a chemical reaction due to the participation of an additional substance called a catalysthttp://goldbook.iupac.org/C00876.html, which is not consumed in the catalyzed reaction and can continue to act repeatedly.
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Cell growth
The term cell growth is used in the contexts of biological cell development and cell division (reproduction).
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Cell membrane
The cell membrane (also known as the plasma membrane or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates the interior of all cells from the outside environment (the extracellular space).
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Cell nucleus
In cell biology, the nucleus (pl. nuclei; from Latin nucleus or nuculeus, meaning kernel or seed) is a membrane-enclosed organelle found in eukaryotic cells.
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Cellular differentiation
In developmental biology, cellular differentiation is the process where a cell changes from one cell type to another.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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Cerebral cortex
The cerebral cortex is the largest region of the cerebrum in the mammalian brain and plays a key role in memory, attention, perception, cognition, awareness, thought, language, and consciousness.
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Cerebral hemisphere
The vertebrate cerebrum (brain) is formed by two cerebral hemispheres that are separated by a groove, the longitudinal fissure.
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Cholesterol
Cholesterol (from the Ancient Greek chole- (bile) and stereos (solid), followed by the chemical suffix -ol for an alcohol) is an organic molecule.
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Chorionic villus sampling
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
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Chromosome 11
Chromosome 11 is one of the 23 pairs of chromosomes in humans.
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Cleft lip and cleft palate
Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).
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Colorimetry (chemical method)
In physical and analytical chemistry, colorimetry or colourimetry is a technique "used to determine the concentration of colored compounds in solution." A colorimeter is a device used to test the concentration of a solution by measuring its absorbance of a specific wavelength of light (not to be confused with the tristimulus colorimeter used to measure colors in general).
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Corpus callosum
The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide commissure, a flat bundle of commissural fibers, about 10 cm long beneath the cerebral cortex in the brains of placental mammals.
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Covalent bond
A covalent bond, also called a molecular bond, is a chemical bond that involves the sharing of electron pairs between atoms.
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Cranial nerves
Cranial nerves are the nerves that emerge directly from the brain (including the brainstem), in contrast to spinal nerves (which emerge from segments of the spinal cord).
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Craniofacial
Craniofacial (cranio- combining form meaning head or skull + -facial combining form referring to the facial structures grossly) is an adjective referring to the parts of the head enclosing the brain and the face.
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Cytochrome P450
Cytochromes P450 (CYPs) are proteins of the superfamily containing heme as a cofactor and, therefore, are hemoproteins.
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Cytokine
Cytokines are a broad and loose category of small proteins (~5–20 kDa) that are important in cell signaling.
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David Weyhe Smith
David Weyhe Smith (September 24, 1926 – January 23, 1981) was an American pediatrician and dysmorphologist.
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Dendrite
Dendrites (from Greek δένδρον déndron, "tree"), also dendrons, are branched protoplasmic extensions of a nerve cell that propagate the electrochemical stimulation received from other neural cells to the cell body, or soma, of the neuron from which the dendrites project.
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Desmosterol
Desmosterol is a molecule similar to cholesterol.
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Developmental disability
Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.
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Diagnostic and Statistical Manual of Mental Disorders
The Diagnostic and Statistical Manual of Mental Disorders (DSM) is published by the American Psychiatric Association (APA) and offers a common language and standard criteria for the classification of mental disorders.
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Dietary supplement
A dietary supplement is a manufactured product intended to supplement the diet when taken by mouth as a pill, capsule, tablet, or liquid.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Double bond
A double bond in chemistry is a chemical bond between two chemical elements involving four bonding electrons instead of the usual two.
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Drug resistance
Drug resistance is the reduction in effectiveness of a medication such as an antimicrobial or an antineoplastic in curing a disease or condition.
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Electrospray ionization
Electrospray ionization (ESI) is a technique used in mass spectrometry to produce ions using an electrospray in which a high voltage is applied to a liquid to create an aerosol.
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Embryonic stem cell
Embryonic stem cells (ES cells or ESCs) are pluripotent stem cells derived from the inner cell mass of a blastocyst, an early-stage pre-implantation embryo.
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Endoplasmic reticulum
The endoplasmic reticulum (ER) is a type of organelle found in eukaryotic cells that forms an interconnected network of flattened, membrane-enclosed sacs or tube-like structures known as cisternae.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Enzyme inhibitor
4QI9) An enzyme inhibitor is a molecule that binds to an enzyme and decreases its activity.
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Epicanthic fold
The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye.
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Ester
In chemistry, an ester is a chemical compound derived from an acid (organic or inorganic) in which at least one –OH (hydroxyl) group is replaced by an –O–alkyl (alkoxy) group.
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Estriol
Estriol (E3), also spelled oestriol, is a steroid, a weak estrogen, and a minor female sex hormone.
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Estrogen
Estrogen, or oestrogen, is the primary female sex hormone.
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Excretion
Excretion is the process by which metabolic waste is eliminated from an organism.
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Exocytosis
Exocytosis is a form of active transport in which a cell transports molecules (e.g., neurotransmitters and proteins) out of the cell (exo- + cytosis) by expelling them through an energy-dependent process.
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Exon
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
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Farnesyl pyrophosphate
Farnesyl pyrophosphate (FPP), also known as farnesyl diphosphate (FDP), is an intermediate in both the mevalonate and non-mevalonate pathways used by organisms in the biosynthesis of terpenes, terpenoids, and sterols.
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Feedback
Feedback occurs when outputs of a system are routed back as inputs as part of a chain of cause-and-effect that forms a circuit or loop.
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Frontal lobe
The frontal lobe, located at the front of the brain, is the largest of the four major lobes of the cerebral cortex in the mammalian brain.
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Gamma-Aminobutyric acid
gamma-Aminobutyric acid, or γ-aminobutyric acid, or GABA, is the chief inhibitory neurotransmitter in the mammalian central nervous system.
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Gas chromatography
Gas chromatography (GC) is a common type of chromatography used in analytical chemistry for separating and analyzing compounds that can be vaporized without decomposition.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.
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Gene knockout
A gene knockout (abbreviation: KO) is a genetic technique in which one of an organism's genes is made inoperative ("knocked out" of the organism).
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Genetic carrier
A hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease.
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Genotype
The genotype is the part of the genetic makeup of a cell, and therefore of an organism or individual, which determines one of its characteristics (phenotype).
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Gestation
Gestation is the carrying of an embryo or fetus inside viviparous animals.
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Glucocorticoid
Glucocorticoids are a class of corticosteroids, which are a class of steroid hormones.
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Glutamic acid
Glutamic acid (symbol Glu or E) is an α-amino acid with formula.
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Granule (cell biology)
In cell biology, a granule is a small particle.
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Hedgehog signaling pathway
The Hedgehog signaling pathway is a signaling pathway that transmits information to embryonic cells required for proper cell differentiation.
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Hemangioma
Hemangioma is a benign tumor formed by a collection of excess blood vessels.
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Hippocampus
The hippocampus (named after its resemblance to the seahorse, from the Greek ἱππόκαμπος, "seahorse" from ἵππος hippos, "horse" and κάμπος kampos, "sea monster") is a major component of the brains of humans and other vertebrates.
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HMG-CoA
β-Hydroxy β-methylglutaryl-CoA (HMG-CoA), also known as 3-hydroxy-3-methylglutaryl-CoA, is an intermediate in the mevalonate and ketogenesis pathways.
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HMG-CoA reductase
HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, officially abbreviated HMGCR) is the rate-controlling enzyme (NADH-dependent,; NADPH-dependent) of the mevalonate pathway, the metabolic pathway that produces cholesterol and other isoprenoids.
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Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.
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Homologous recombination
Homologous recombination is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical molecules of DNA.
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Human embryogenesis
Human embryogenesis is the process of cell division and cellular differentiation of the embryo that occurs during the early stages of development.
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Hypocholesterolemia
Hypocholesterolemia is the presence of abnormally low (hypo-) levels of cholesterol in the blood (-emia).
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Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.
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Immunoglobulin E
Immunoglobulin E (IgE) is a type of antibody (or immunoglobulin (Ig) "isotype") that has only been found in mammals.
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Inborn errors of metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.
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Incidence (epidemiology)
Incidence in epidemiology is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time.
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Infection
Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.
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Integral membrane protein
An integral membrane protein (IMP) is a type of membrane protein that is permanently attached to the biological membrane.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Intracellular
In cell biology, molecular biology and related fields, the word intracellular means "inside the cell".
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Ion channel
Ion channels are pore-forming membrane proteins that allow ions to pass through the channel pore.
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Irritability
Irritability is the excitatory ability that living organisms have to respond to changes in their environment.
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Isoelectric point
The isoelectric point (pI, pH(I), IEP), is the pH at which a particular molecule carries no net electrical charge or is electrically neutral in the statistical mean.
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Isopentenyl pyrophosphate
Isopentenyl pyrophosphate (IPP, isopentenyl diphosphate, or IDP) is an isoprenoid precursor.
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John M. Opitz
John M. Opitz (born August 15, 1935) is a German-American medical geneticist and professor at the University of Utah School of Medicine.
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Lanosterol
Lanosterol is a tetracyclic triterpenoid and is the compound from which all animal and fungal steroids are derived.
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Lathosterol
Lathosterol is a cholesterol-like molecule.
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Liebermann–Burchard test
The Liebermann–Burchard or acetic anhydride test is used for the detection of cholesterol.
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Ligand (biochemistry)
In biochemistry and pharmacology, a ligand is a substance that forms a complex with a biomolecule to serve a biological purpose.
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Lipid
In biology and biochemistry, a lipid is a biomolecule that is soluble in nonpolar solvents.
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Lipid bilayer
The lipid bilayer (or phospholipid bilayer) is a thin polar membrane made of two layers of lipid molecules.
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Lipid peroxidation
Lipid peroxidation is the oxidative degradation of lipids.
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Lipid raft
The plasma membranes of cells contain combinations of glycosphingolipids and protein receptors organised in glycolipoprotein microdomains termed lipid rafts.
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Mast cell
A mast cell (also known as a mastocyte or a labrocyte) is a type of white blood cell.
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Membrane fluidity
In biology, membrane fluidity refers to the viscosity of the lipid bilayer of a cell membrane or a synthetic lipid membrane.
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Membrane transport
In cellular biology, membrane transport refers to the collection of mechanisms that regulate the passage of solutes such as ions and small molecules through biological membranes, which are lipid bilayers that contain proteins embedded in them.
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Messenger RNA
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
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Mevalonate pathway
The mevalonate pathway, also known as the isoprenoid pathway or HMG-CoA reductase pathway is an essential metabolic pathway present in eukaryotes, archaea, and some bacteria.
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Mevalonic acid
Mevalonic acid (MVA) is a key organic compound in biochemistry; the name is a contraction of dihydroxymethylvalerolactone.
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Microcephaly
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
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Micrognathism
Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.
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Mineralocorticoid
Mineralocorticoids are a class of corticosteroids, which in turn are a class of steroid hormones.
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Miscarriage
Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.
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Missense mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
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Model organism
A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms.
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Molecular mass
Relative Molecular mass or molecular weight is the mass of a molecule.
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Mouse
A mouse (Mus), plural mice, is a small rodent characteristically having a pointed snout, small rounded ears, a body-length scaly tail and a high breeding rate.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Myelin
Myelin is a lipid-rich substance that surrounds the axon of some nerve cells, forming an electrically insulating layer.
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N-Methyl-D-aspartic acid
N-Methyl-D-aspartic acid or N-Methyl-D-aspartate (NMDA) is an amino acid derivative that acts as a specific agonist at the NMDA receptor mimicking the action of glutamate, the neurotransmitter which normally acts at that receptor.
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Nervous system
The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.
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Neuroglia
Neuroglia, also called glial cells or simply glia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Neurosteroid
Neurosteroids, also known as neuroactive steroids, are endogenous or exogenous steroids that rapidly alter neuronal excitability through interaction with ligand-gated ion channels and other cell surface receptors.
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Neurotransmitter
Neurotransmitters are endogenous chemicals that enable neurotransmission.
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Nicotinamide adenine dinucleotide phosphate
Nicotinamide adenine dinucleotide phosphate, abbreviated NADP or, in older notation, TPN (triphosphopyridine nucleotide), is a cofactor used in anabolic reactions, such as lipid and nucleic acid synthesis, which require NADPH as a reducing agent.
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Nuclear envelope
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes which surrounds the nucleus, and in eukaryotic cells it encases the genetic material.
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Nuclear receptor
In the field of molecular biology, nuclear receptors are a class of proteins found within cells that are responsible for sensing steroid and thyroid hormones and certain other molecules.
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Nucleotide
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
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Null allele
A null allele is a nonfunctional copy of a gene caused by a genetic mutation.
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Organelle
In cell biology, an organelle is a specialized subunit within a cell that has a specific function, in which their function is vital for the cell to live.
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Oxidative stress
Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to repair the resulting damage.
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Oxysterol
Oxysterols are oxidized derivatives of cholesterol which may be important in many biological processes, including.
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Particle beam
A particle beam is a stream of charged or neutral particles, in many cases moving at near the speed of light.
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Peripheral nervous system
The peripheral nervous system (PNS) is one of the two components of the nervous system, the other part is the central nervous system (CNS).
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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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Photosensitivity
Photosensitivity is the amount to which an object reacts upon receiving photons, especially visible light.
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Photosensitivity in humans
Light sensitivity or photosensitivity refers to a notable or increased reactivity to light.
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Placenta
The placenta is an organ that connects the developing fetus to the uterine wall to allow nutrient uptake, thermo-regulation, waste elimination, and gas exchange via the mother's blood supply; to fight against internal infection; and to produce hormones which support pregnancy.
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Polydactyly
Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes.
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Pregnadiene
A pregnadiene is a diene derivative of a pregnane.
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Prenatal testing
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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Protein kinase C
Protein kinase C, commonly abbreviated to PKC (EC 2.7.11.13), is a family of protein kinase enzymes that are involved in controlling the function of other proteins through the phosphorylation of hydroxyl groups of serine and threonine amino acid residues on these proteins, or a member of this family.
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Proteolysis
Proteolysis is the breakdown of proteins into smaller polypeptides or amino acids.
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Ptosis (eyelid)
Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.
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Reactive oxygen species
Reactive oxygen species (ROS) are chemically reactive chemical species containing oxygen.
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Receptor (biochemistry)
In biochemistry and pharmacology, a receptor is a protein molecule that receives chemical signals from outside a cell.
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Regulation of gene expression
Regulation of gene expression includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA), and is informally termed gene regulation.
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Self-harm
Self-harm, also known as self-injury, is defined as the intentional, direct injuring of body tissue, done without suicidal intentions.
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Sensory processing disorder
Sensory processing disorder (SPD; also known as '''sensory integration dysfunction''') is a condition that exists when multisensory integration is not adequately processed in order to provide appropriate responses to the demands of the environment. The senses provide information from various modalities—vision, audition, tactile, olfactory, taste, proprioception, interoception and vestibular system—that humans need to function. Sensory processing disorder is characterized by significant problems in organizing sensation coming from the body and the environment and is manifested by difficulties in the performance in one or more of the main areas of life: productivity, leisure and play or activities of daily living. Different people experience a wide range of difficulties when processing input coming from a variety of senses, particularly tactile (e.g., finding fabrics itchy and hard to wear while others do not), vestibular (e.g., experiencing motion sickness while riding a car) and proprioceptive (having difficulty grading the force to hold a pen in order to write). Sensory integration was defined by occupational therapist Anna Jean Ayres in 1972 as "the neurological process that organizes sensation from one's own body and from the environment and makes it possible to use the body effectively within the environment". Sensory processing disorder is gaining recognition, although it is still not recognized by the Diagnostic and Statistical Manual. Despite its proponents, it is still debated as to whether SPD is actually an independent disorder or the observed symptoms of various other, more well-established, disorders.
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Sequence motif
In genetics, a sequence motif is a nucleotide or amino-acid sequence pattern that is widespread and has, or is conjectured to have, a biological significance.
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Serotonergic
Serotonergic or serotoninergic means "pertaining to or affecting serotonin".
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Serotonin
Serotonin or 5-hydroxytryptamine (5-HT) is a monoamine neurotransmitter.
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Sex steroid
Sex steroids, also known as gonadocorticoids and gonadal steroids, are steroid hormones that interact with vertebrate androgen or estrogen receptors.
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Signal transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellular response.
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Simvastatin
Simvastatin, marketed under the trade name Zocor among others, is a lipid-lowering medication.
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Sonic hedgehog
Sonic hedgehog is a protein that in humans is encoded by the SHH ("sonic hedgehog") gene.
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Specificity constant
In the field of biochemistry, the specificity constant (also called kinetic efficiency or k_/K_), is a measure of how efficiently an enzyme converts substrates into products.
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Sphingolipid
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine.
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Squalene
Squalene is a natural 30-carbon organic compound originally obtained for commercial purposes primarily from shark liver oil (hence its name, as Squalus is a genus of sharks), although plant sources (primarily vegetable oils) are now used as well, including amaranth seed, rice bran, wheat germ, and olives.
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Steroid
A steroid is a biologically active organic compound with four rings arranged in a specific molecular configuration.
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Sterol
Sterols, also known as steroid alcohols, are a subgroup of the steroids and an important class of organic molecules.
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Substrate (chemistry)
In chemistry, a substrate is typically the chemical species being observed in a chemical reaction, which reacts with a reagent to generate a product.
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Synaptic vesicle
In a neuron, synaptic vesicles (or neurotransmitter vesicles) store various neurotransmitters that are released at the synapse.
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Syndactyly
Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.
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Teratology
Teratology is the study of abnormalities of physiological development.
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Testosterone
Testosterone is the primary male sex hormone and an anabolic steroid.
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Threonine
Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins.
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Time-of-flight mass spectrometry
Time-of-flight mass spectrometry (TOFMS) is a method of mass spectrometry in which an ion's mass-to-charge ratio is determined via a time of flight measurement.
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Transcription (biology)
Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.
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Transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence.
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Translation (biology)
In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.
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Transmembrane domain
Transmembrane domain usually denotes a transmembrane segment of single alpha helix of a transmembrane protein.
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Tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to a protein in a cell.
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Ultraviolet
Ultraviolet (UV) is electromagnetic radiation with a wavelength from 10 nm to 400 nm, shorter than that of visible light but longer than X-rays.
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Ultraviolet–visible spectroscopy
Ultraviolet–visible spectroscopy or ultraviolet–visible spectrophotometry (UV–Vis or UV/Vis) refers to absorption spectroscopy or reflectance spectroscopy in the ultraviolet-visible spectral region.
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Unified atomic mass unit
The unified atomic mass unit or dalton (symbol: u, or Da) is a standard unit of mass that quantifies mass on an atomic or molecular scale (atomic mass).
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Ventricular system
The ventricular system is a set of four interconnected cavities (ventricles) in the brain, where the cerebrospinal fluid (CSF) is produced.
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Vesicle (biology and chemistry)
In cell biology, a vesicle is a small structure within a cell, or extracellular, consisting of fluid enclosed by a lipid bilayer.
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Vitamin E
Vitamin E is a group of eight compounds that include four tocopherols and four tocotrienols.
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Zygosity
Zygosity is the degree of similarity of the alleles for a trait in an organism.
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Zymosterol
Zymosterol is an intermediate in cholesterol biosynthesis.
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5-HT receptor
5-hydroxytryptamine receptors or 5-HT receptors, or serotonin receptors, are a group of G protein-coupled receptor and ligand-gated ion channels found in the central and peripheral nervous systems.
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7-Dehydrocholesterol
7-Dehydrocholesterol (7-DHC) is a zoosterol that functions in the serum as a cholesterol precursor, and is converted to vitamin D3 in the skin, therefore functioning as provitamin-D3.
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7-Dehydrocholesterol reductase
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
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7-Dehydrodesmosterol
7-Dehydrodesmosterol (or cholesta-5,7,24-trien-3-beta-ol) is a cholesterol intermediate.
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Redirects here:
7-dehydrocholesterol reductase deficiency, SLOS, Smith Lemli Opitz Syndrome, Smith-Lemli-Opitz Syndrome, Smith-Lemli-Opitz syndrome, Smith-lemli-opitz syndrome.
References
[1] https://en.wikipedia.org/wiki/Smith–Lemli–Opitz_syndrome
