mutations

DEFINITION:

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

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

X-linked nephrogenic diabetes insipidus

DEFINITION:

A form of diabetes insipidus, inherited as an X-linked trait, caused by failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutations

DEFINITION:

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

mutations

DEFINITION:

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

residues

DEFINITION:

1. That which remains after the removal of other substances.
2. In biochemistry, the portion of a molecule that remains after it has lost some of its components, as an amino acid residue, which loses a water molecule when it is joined to another amino acid.

pharmacologic

DEFINITION:

Pertaining to pharmacology or to the properties and reactions of drugs.

properties

DEFINITION:

Properties are characteristic qualities, abilities, capabilities, or functions.

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.

residue

DEFINITION:

1. A remainder; that which remains after the removal of other substances.
2. In biochemistry, the portion of a molecule that remains after it has lost some of its components, as an amino acid residue, which loses a water molecule when it is joined to another amino acid.

aspartic acid

DEFINITION:

A nonessential amino acid, aminosuccinic acid, occurring in proteins; it is also an excitatory neurotransmitter in the central nervous system. Symbol Asp.

conserved

DEFINITION:

Kept from loss, decay, waste, or injury; preserved.

G protein-coupled receptors

DEFINITION:

G protein-linked (or coupled) receptors mediate the cellular responses to an enormous diversity of signaling molecules, including hormones, neurotransmitters, and local mediators, which are as varied in structure as they are in function: the list includes proteins and small peptides, as well as amino acid and fatty acid derivatives.

Despite the chemical and functional diversity of the signaling molecules that bind to them, all of the G protein-linked receptors whose amino acid sequences are known from DNA sequencing studies have a similar structure and are almost certainly evolutionarily related. They consist of a single polypeptide chain that threads back and forth across the lipid bilayer seven times.

The members of this receptor family have conserved not only their amino acid sequence but also their functional relationship to G proteins by means of which they broadcast into the interior of the cell the message that an extracellular ligand is present.

isomerization

DEFINITION:

The process whereby any isomer, whether structural or stereochemical, is converted into another, usually requiring special conditions of temperature, pressure, or catalysts.

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.

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.

intracellular

DEFINITION:

Situated or occurring within a cell or cells.

binding

DEFINITION:

1. Wrapping with a binder or bandage.

2. Forming a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

coupling

DEFINITION:

1. The joining together of two things.

2. In genetics, the occurrence on the same chromosome in a double heterozygote of the two mutant alleles of interest.

3. In cardiology, the serial occurrence of a normal heart beat followed closely by a premature beat.

properties

DEFINITION:

Properties are characteristic qualities, abilities, capabilities, or functions.

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.

tryptophan

DEFINITION:

An essential amino acid, a-amino-3-indolepropionic acid, existing in proteins, from which it is set free by tryptic digestion; necessary for optimal growth in infants and for nitrogen equilibrium in human adults. It is a precursor of serotonin. Adequate levels of tryptophan in the diet may compensate for deficiencies of niacin and thus mitigate pellagra.

binding

DEFINITION:

1. Wrapping with a binder or bandage.

2. Forming a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

properties

DEFINITION:

Properties are characteristic qualities, abilities, capabilities, or functions.

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.

intracellular

DEFINITION:

Situated or occurring within a cell or cells.

routing

DEFINITION:

1. A course or way.

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

molecular analysis

DEFINITION:

The act of determining the component parts of a molecule.

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.

residue

DEFINITION:

1. A remainder; that which remains after the removal of other substances.
2. In biochemistry, the portion of a molecule that remains after it has lost some of its components, as an amino acid residue, which loses a water molecule when it is joined to another amino acid.

V2 receptor

DEFINITION:

See under receptor .

permission

DEFINITION:

Formal consent; authorization.