molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

congenital nephrogenic diabetes insipidus

DEFINITION:

A condition involving the kidneys (see nephrogenic diabetes insipidus) which exists at, and usually before, birth. Congenital refers to conditions that are present at birth, regardless of their causation.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

characterized

DEFINITION:

Marked or distinguished as a characteristic.

antidiuretic

DEFINITION:

1. Suppressing the rate of urine formation.

2. An agent that suppresses urine formation.

arginine vasopressin

DEFINITION:

Vasopressin containing arginine, as that from most mammals, including man.

diuresis

DEFINITION:

Increased excretion of urine.

antidiuresis

DEFINITION:

Suppression of urinary excretion.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

X-linked

DEFINITION:

See under gene.

mutations

DEFINITION:

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

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).

receptor

DEFINITION:

1. A molecular structure within a cell or on the surface characterized by (1) selective binding of a specific substance and (2) a specific physiologic effect that accompanies the binding, e.g., membrane receptors for peptide hormones, neurotransmitters, antigens, complement fragments, and immunoglobulins and nuclear receptors for steroid hormones.

2. A sensory nerve terminal that responds to stimuli of various kinds; classified in various ways including by the type of stimulus and by the location in the body.

V2 receptor - The structure to which the antidiuretic hormone, arginine vasopressin binds.

V2R

DEFINITION:

Vasopressin-2 receptor.

gene

DEFINITION:

A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

mutations

DEFINITION:

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

aquaporin-2

DEFINITION:

Also called WCH-CD, this water channel makes the principal cells of the inner medullary collecting duct in the kidneys more permeable to water. Lack of functional aquaporin-2 gene leads to a rare form of nephrogenic diabetes insipidus.

AQP2

DEFINITION:

Aquaporin-2.

autosomal recessive

DEFINITION:

In genetics, pertaining to incapability of expression unless the responsible allele is carried by both members of a pair of homologous chromosomes.

dominant

DEFINITION:

1. Exerting a ruling or controlling influence.

2. In genetics, capable of expression when carried by only one of a pair of homologous chromosomes.

3. A dominant allele or trait.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

in vitro

DEFINITION:

Within a glass; observable in a test tube; in an artificial environment.

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).

V2R

DEFINITION:

Vasopressin-2 receptor.

mutants

DEFINITION:

1. Genes or organisms that have undergone genetic mutation.

recessive NDI

DEFINITION:

Recessive nephrogenic diabetes insipidus.

misfolded

DEFINITION:

Mistakenly or wrongly folded. See fold.

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.

functional analysis

DEFINITION:

Determining the function or characteristic behaviors of component parts of a substance.

mutations

DEFINITION:

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

dominant NDI

DEFINITION:

Dominant nephrogenic diabetes insipidus.

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

ER

DEFINITION:

Abbreviation for endoplasmic reticulum.

Golgi region

DEFINITION:

See Golgi complex.

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

mutants

DEFINITION:

1. Genes or organisms that have undergone genetic mutation.

recessive NDI

DEFINITION:

Recessive nephrogenic diabetes insipidus.

wild-type AQP2

DEFINITION:

1. Aquaporin-2 occurring in a natural environment and not in captivity or a laboratory.
2. Referring to a genetic strain used as a standard, usually presumed to be the type found in nature.

transport

DEFINITION:

The movement of materials in biological systems, particularly into and out of cells and across epithelial layers.

membrane

DEFINITION:

A thin layer of tissue which covers a surface, lines a cavity, or divides a space or organ.

apical membrane - Pertaining to or located at the apex.

basolateral membrane - Pertaining to the base and sides.

plasma membrane - 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.

postsynaptic membrane - The area of plasma membrane of a postsynaptic cell, either a muscle fiber or a neuron, that is within the synapse and has areas especially adapted for receiving neurotransmitters.

presynaptic membrane - Area of the plasma membrane of a presynaptic axon that is within the synapse and has sites (active zones) especially adapted for the release of neurotransmitters.

semipermeable membrane - A membrane that permits the passage of a solvent, such as water, but prevents the passage of the dissolved substance, or solute.

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.

methodologies

DEFINITION:

See methodology .

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

in vitro

DEFINITION:

Within a glass; observable in a test tube; in an artificial environment.

therapeutic

DEFINITION:

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