abstract

DEFINITION:

1. A summary or epitome of a book, paper, or case history.


2. Considered apart from a particular instance.


3. Expressing a quality apart from an object.


4. Having only intrinsic form with little or no pictorial representation.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

aquaporin-2 gene

DEFINITION:

The segment of a DNA molecule that contains all the information required for synthesis of aquaporin-2.

encodes

DEFINITION:

Converts (a message, information, etc.) into code.

renal water channel

DEFINITION:

In a kidney, a channel in a cell membrane that permits passage of water molecules; chemical substances such as vasopressin cause the opening of new channels and increase permeability.

autosomal nephrogenic diabetes insipidus

DEFINITION:

Nephrogenic diabetes insipidus involving an ordinary paired chromosome that is alike in males and females, as distinguished from sex chromosomes (i.e., as distinguished from X-linked nephrogenic diabetes insipidus).

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

kidney

DEFINITION:

One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in man are bean-shaped organs about 4-1/2 inches long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.

concentrate

DEFINITION:

1. To bring to a common center; to gather together at one point.

2. To increase the strength by diminishing the bulk of, as of a liquid; to condense.

3. A drug or other preparation that has been strengthened by the evaporation of its non-active parts.

urine

DEFINITION:

The fluid excreted by the kidneys, passed through the ureters, stored in the bladder, and discharged through the urethra. Urine, in health, has an amber color, a slight acid reaction, a peculiar odor, and a bitter, saline taste.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

AQP2

DEFINITION:

Aquaporin-2.

recessive NDI

DEFINITION:

Recessive nephrogenic diabetes insipidus.

endoplasmic reticulum

DEFINITION:

An ultramicroscopic organelle of nearly all cells of higher plants and animals, consisting of a more or less continuous system of membrane-bound cavities that ramify throughout the cytoplasm of a cell.

ER

DEFINITION:

Abbreviation for endoplasmic reticulum.

routing

DEFINITION:

1. A course or way.

2. The area of the body through which a curative is introduced.

plasma membrane

DEFINITION:

The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees.

novel

DEFINITION:

Of a new kind, or different from anything seen or known before.

AQP2 gene

DEFINITION:

Aquaporin-2 gene.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

cell

DEFINITION:

1. Any one of the minute protoplasmic masses that make up organized tissue, consisting of a nucleus which is surrounded by cytoplasm which contains the various organelles and is enclosed in the cell or plasma membrane. A cell is the fundamental, structural, and functional unit of living organisms.

2. A small, more or less closed space.

neuroglial cells - The cells of the supportive tissue of the central nervous system (neuroglia); these non-neural cells are of three kinds: astrocytes, oligodendrocytes (collectively termed macroglia) and microglia.

reticular cells - The cells forming the reticular fibers of connective tissue; those forming the framework of lymph nodes, bone marrow, and spleen are part of the reticuloendothelial system and under appropriate stimulation may differentiate into macrophages.

stem cell - 1. Any precursor cell.

2. A blood cell progenitor, or mother cell, having the capacity for both replication and differentiation, and giving rise to various morphologically recognizable precursors of different blood cell lines, such as the proerythrocyte and myeloblast, which cannot self-replicate and must differentiate into more mature daughter cells.

biologic

DEFINITION:

Pertaining to biology.

recessive NDI

DEFINITION:

Recessive nephrogenic diabetes insipidus.

homozygous

DEFINITION:

Possessing a pair of identical alleles at a given locus; called also homogenic.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

encoding

DEFINITION:

The process of converting (as a body of information) from one system of communication into another; esp.: to convert (a message) into code.

expression

DEFINITION:

1. The aspect or appearance of the face (or surface of a cell) as determined by the physical or emotional state.

2. The act of squeezing or evacuating by pressure; a term used in pharmacy, surgery, and obstetrics.

3. The detectable effect of a gene.

4. A representation of value, relation, or the like (e.g., ratio).

oocytes

DEFINITION:

Developing egg cells; eggs before maturation.

mutants

DEFINITION:

1. Genes or organisms that have undergone genetic mutation.

water permeability

DEFINITION:

The property or state of being permeable to water.

wt-AQP2

DEFINITION:

Wild-type AQP2.

allele

DEFINITION:

Any alternative form of a gene that can occupy a particular chromosomal lucus. In humans and other diploid organisms there are two alleles, one on each chromosome of a homologous pair.

allele

DEFINITION:

Any alternative form of a gene that can occupy a particular chromosomal lucus. In humans and other diploid organisms there are two alleles, one on each chromosome of a homologous pair.

missense

DEFINITION:

Genetic mutation involving alteration of one or more codons so that different amino acids are determined.

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

routing

DEFINITION:

1. A course or way.

2. The area of the body through which a curative is introduced.

oocytes

DEFINITION:

Developing egg cells; eggs before maturation.

wt-AQP2

DEFINITION:

Wild-type AQP2.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

allele

DEFINITION:

Any alternative form of a gene that can occupy a particular chromosomal lucus. In humans and other diploid organisms there are two alleles, one on each chromosome of a homologous pair.

ER

DEFINITION:

Abbreviation for endoplasmic reticulum.

retention

DEFINITION:

1. The act or process of keeping in possession, or of holding in place or position.
2. The persistent keeping within the body of matter normally excreted.
3. In cavity preparation, the prevention of displacement of a restoration.
4. In orthodontic therapy, the period during which the patient is wearing an appliance(s) to maintain and stabilize the teeth in the position into which they were moved.

retention of urine - Accumulation of urine within the bladder because of inability to urinate.

cell

DEFINITION:

1. Any one of the minute protoplasmic masses that make up organized tissue, consisting of a nucleus which is surrounded by cytoplasm which contains the various organelles and is enclosed in the cell or plasma membrane. A cell is the fundamental, structural, and functional unit of living organisms.

2. A small, more or less closed space.

neuroglial cells - The cells of the supportive tissue of the central nervous system (neuroglia); these non-neural cells are of three kinds: astrocytes, oligodendrocytes (collectively termed macroglia) and microglia.

reticular cells - The cells forming the reticular fibers of connective tissue; those forming the framework of lymph nodes, bone marrow, and spleen are part of the reticuloendothelial system and under appropriate stimulation may differentiate into macrophages.

stem cell - 1. Any precursor cell.

2. A blood cell progenitor, or mother cell, having the capacity for both replication and differentiation, and giving rise to various morphologically recognizable precursors of different blood cell lines, such as the proerythrocyte and myeloblast, which cannot self-replicate and must differentiate into more mature daughter cells.

biologic

DEFINITION:

Pertaining to biology.

recessive NDI

DEFINITION:

Recessive nephrogenic diabetes insipidus.

missense

DEFINITION:

Genetic mutation involving alteration of one or more codons so that different amino acids are determined.

AQP2

DEFINITION:

Aquaporin-2.

proteins

DEFINITION:

Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen, and which are widely distributed in plants and animals. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function. They serve as enzymes, structural elements, hormones, immunoglobulins, etc., and are involved in oxygen transport, muscle contraction, electron transport, and other activities throughout the body, and in photosynthesis.

binding protein - any of a number of plasma proteins (See below) that bind to hormones of low solubility (chiefly the thyroid and steroid hormones), thus providing a transport system for them; some are specific for particular hormones, while others bind to any sparingly soluble hormones. Called also carrier protein or transport protein (See below).

carrier proteins - A binding protein (See above).

plasma proteins - The hundreds of different proteins present in blood plasma, including carrier proteins (such as albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotensin and bradykinin, and many other types of proteins.

transport protein - binding protein (See above).

water permeability

DEFINITION:

The property or state of being permeable to water.

therapeutic

DEFINITION:

A term meaning "related to treatment." The therapeutic dose of a drug is the amount required to have a beneficial effect.

value

DEFINITION:

1. A measure of worth or efficiency.

2. A quantitative measurement of the activity, concentration, or some other quality of a substance.

routing

DEFINITION:

1. A course or way.

2. The area of the body through which a curative is introduced.

plasma membrane

DEFINITION:

The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees.

permission

DEFINITION:

Formal consent; authorization.