A membrane-bound glycosylated enzyme, the function of which remains unknown, but which has been linked directly to hypophosphatasia.
One of two or more alternate forms of a gene that resides on a specific site (also known as a locus) on a chromosome.
The specialized bone structure that contains the alveoli, or sockets, of the teeth.
Also known as immunoglobulins, these molecules are found in blood or other bodily fluids and are used by the immune system to identify and neutralize foreign substances, such as bacteria and viruses.
Cells or tissues that are reimplanted in the same individual from which they came.
A mode of genetic inheritance in which the presence of only one copy of a gene that resides on an autosomal (non-sex determining) chromosome will result in phenotypic expression of that gene.
A mode of genetic inheritance in which the phenotypic expression of a gene of interest requires its presence on both paired autosomal (non-sex determining) chromosomes.
The degree to which a drug becomes available to the target tissue after administration.
A hormone, enzyme, antibody, or other biochemical substance that is detected in bodily fluids or tissues that may serve as a sign of disease or abnormality.
A class of drugs used to treat osteoporosis and similar diseases that prevent the loss of bone mass by inhibiting the digestion of bones by osteoclasts.
The extraction of bone marrow containing normal stem cells from a healthy donor and the subsequent transfer to a recipient whose body cannot manufacture adequate quantities of normal blood cells.
The process by which the body uses minerals to build bone structure.
A component of mineralized tissues such as bone, dentine, cementum, and calcified cartilage.
A hormone produced by the parafollicular cells of the thyroid that acts to reduce blood calcium (Ca2+).
A rheumatologic disorder caused by precipitation of calcium pyrophosphate dihydrate crystals in the connective tissues.
The cells that form cartilage.
The organized structure of DNA and proteins found in the cell nucleus. Chromosomes come in pairs, and a normal human cell contains 46 chromosomes.
A research study that uses consenting human subjects to test the safety and efficacy of new therapeutic interventions and diagnostic tests.
A genetic term for having two heterogeneous recessive alleles at a particular locus that can result in disease. Because the mutations involved are less deleterious than that in a homozygous individual, compound heterozygotes frequently become ill later in life and display less severe symptoms.
An improper development of bones with marked shortness of limbs that occurs early in fetal development.
A type of fibrous joint that resides between bones in the skull.
A condition in which some or all of the cranial sutures in a child close too early, which affects brain and skull growth.
The first set of teeth to develop in humans, which are lost and replaced by permanent teeth. Also known as “baby teeth.”
The natural teeth in position in the dental arches.
The removal of a phosphate group to a protein or other organic molecule.
The main section (shaft) of a long bone.
An enzyme that works outside of the cell that secretes it.
A subcutaneous enzyme replacement therapy with affinity for bone that is currently in clinical trials.
A molecule that catalyzes or triggers biochemical reactions.
A medical treatment that replaces an enzyme in patients who either lack or have a deficient form of the particular enzyme.
A chronic neurological disorder characterized by recurrent episodes of unprovoked seizures.
The biological unit of heredity that is made up of a DNA sequence, occupies a precise location (locus) on a chromosome, and contains instructions for the production of a particular protein.
An individual who inherits an allele without exhibiting its effects, which is usually recessive.
A health care professional who assists individuals or families who may be at risk for a variety of inherited conditions.
A variation in composition, quality, or structure.
The presence of identical alleles of a gene on both homologous chromosomes.
An elevation of calcium in the blood.
Relating to joints that stretch farther than normal. Also known as “double-jointed.”
Relating to a deficiency of minerals.
A rare, inherited, and sometimes fatal metabolic bone disease characterized by poor bone mineralization and profound skeletal defects.
Occuring in the uterus or fetus before birth.
Regulates certain intracellular functions and extracellular crystal formation.
Genetic mutation that results in a protein with little or no function.
A bone that forms directly within membranous connective tissue without previous cartilage formation. Examples include the clavicle and bones of the skull.
The intermediates and products of metabolism.
The wider portion of a long bone adjacent to the epiphyseal plate. This part of the bone grows during childhood.
The five long bones of the foot.
A mutation in which a single base change results in the insertion of a different amino acid, giving rise to an altered protein.
A form of gait abnormality. Also known as “waddling gait.”
The process of bone formation.
Cells responsible for bone formation.
A genetic bone disorder typically caused by a deficiency of Type-I collagen that results in fragile bones. Also known as brittle bone disease.
The adult form of rickets, which is a softening of the bones caused by defective bone mineralization.
A glycoprotein that is abundant in bone mineral matrix and has been implicated as an important factor in bone remodeling.
The most common type of malignant bone cancer.
A surgical procedure where a bone is shortened, lengthened, or re-aligned.
A chronic disorder resulting in enlarged and deformed bones.
A hormone secreted by the parathyroid glands that acts to increase the concentration of calcium in the blood.
The proportion of individuals with a genetic mutation who exhibit clinical symptoms.
A gum disease that destroys the structures supporting the teeth, including bone.
The study of the process by which a drug is absorbed, distributed, metabolized, and eliminated by the body.
The observable characteristics of an organism, as determined by genetic and environmental influences.
The fluid portion of blood, in which blood cells are suspended.
Research done prior to a clinical study.
Clinically evident acute inflammation of synovial joints that resembles gouty arthritis.
The active form of vitamin B6.
A softening of bones in children leading to fractures and deformity, which is predominantly caused by a vitamin D deficiency.
A genetically engineered mouse that has one or more genes turned off.
