C.H. McIlraith's paper describing families who experienced conditions of excessive thirst and frequent urination was published. This was the first reference to appear of what was probably an inheritedfactor in the disorder.
Bode and Crawford proposed under the term "The Hopewell Hypothesis" that most cases in America could be traced to descendants of Ulster Scots who arrived in Novia Scotia in 1761 on the ship Hopewell.
A newly recognized variant of familial nephrogenic diabetes insipidus distinguished by partial resistance to vasopressin. Gary Robertson and Scheidler, J.A.
Clinical Research 29: 555A, 1981.
The Nijmegan group of The Netherlands isolated the human cDNA for the AQP2 water channel gene and identified mutations of the AQP2 gene as a cause of the recessive form of NDI.
Mulders, et al., provided the first evidence that autosomal dominant NDI is also caused by a mutation in the AQP2 gene and that this form of NDI is also caused by an impaired transport of the mutant AQP2 protein to the plasma membrane (retained in the Golgi Complex).
That which has been acquired by transmission from parent to offspring.
factor
DEFINITION:
1. Any of several substances or activities that are necessary to produce a result, e.g., a coagulation factor (see below). Often, use of the term "factor" indicates that the chemical nature of the substance or its mechanism of action is unknown, as in endocrinology, where "factors" are renamed as "hormones" when their chemical nature is determined.
2. One of two or more quantities that multiplied together form a product.
3. A gene (hereditary factor).
Antihemophilic Factor (AHF) -
1. See Factor VIII under coagulation factor (below).
2. [USP] A sterile freeze-dried powder containing the Factor VIII fraction prepared from units of human venous plasma obtained from suitable whole-blood donors; it may contain heparin sodium or sodium citrate. Used to arrest hemorrhage or to prevent hemorrhage during surgery or other procedures in patients with hemophilia A; administered intravenously.
Coagulation Factors - Substances in the blood that are essential to the clotting process and hence, to the maintenance of normal hemostasis. They are designated by Roman numerals, to which the notation "a" is added to indicate the activated state. Platelet factors (see below), designated by Arabic numerals, also play a role in coagulation.
Coagulation Factor II, prothrombin - A plasma protein that is converted to the active form thrombin (factor IIa) by cleavage by activated factor X (Xa) in the common pathway of blood coagulation; thrombin then cleaves fibrinogen to its active form fibrin. Deficiency of the factor leads to hypoprothrombinemia.
Coagulation Factor III, tissue thromboplastin - A lipoprotein functioning in the extrinsic pathway of blood coagulation, activating factor X (see below).
Coagulation Factor V, proaccelerin - A heat- and storage-labile material, present in plasma but not in serum, functioning in both the intrinsic and extrinsic pathways of blood coagulation. Deficiency of this factor, an autosomal recessive trait, leads to a rare hemorrhagic tendency, known as Owren's disease or parahemophilia, which varies greatly in severity.
Coagulation Factor VIII, antihemophilic factor (AHF) - A relatively storage-labile factor (see below) participating only in the intrinsic pathway of blood coagulation. Deficiency of this factor, when transmitted as a sex-linked recessive trait, causes classical hemophilia (hemophilia A). (See also antihemophilic factor above.)
Coagulation Factor IX, plasma thromboplastin component (PTC) - A relatively storage-stable substance involved in the intrinsic pathway of blood coagulation; upon activation, it activates factor X (see below). Deficiency results in a hemorrhagic syndrome called hemophilia B, resembling hemophilia A. Called also autoprothrombin II, Christmas factor, and antihemophilic factor B.
Coagulation Factor X, Stuart factor - A storage-stable factor that participates in both the intrinsic and extrinsic pathways of blood coagulation, uniting them to begin the common pathway of coagulation. Once activated, it forms a complex with calcium, phospholipid, and factor V (see above); the complex (prothrombinase) can cleave and activate prothrombin to thrombin. Deficiency of this factor may cause a systemic coagulation disorder.
Coagulation Factor XI, plasma thromboplastin antecedent (PTA) - A stable factor involved in the intrinsic pathway of blood coagulation; once activated, it activates factor IX. Deficiency of this factor results in a systemic blood-clotting defect called hemophilia C, which may resemble hemophilia A. Called also antihemophilic factor C.
Coagulation Factor XII, Hageman factor - A stable factor activated by contact with glass or other foreign surfaces, which initiates the intrinsic process of blood coagulation by activating factor XI and participates in activation of the kinin and fibrinolytic pathways. Deficiency of this factor results in a tendency toward thrombotic disorders, due to lack of activation of the fibrinolytic pathway. Called also glass factor, contact factor, or activation factor.
Heat-labile Factor - See Factor V under Coagulation Factors (above).
Platelet Factor - Factors important in hemostasis which are contained in or attached to the platelets.
Storage-labile Factor - A factor which shows chemically-unstable attributes during storage.
von Willebrand Factor (vWF) - The attribute of factor VIII (see above) necessary for the adhesion of platelets to vascular elements. Deficiency of this factor results in the prolonged bleeding time seen in von Willebrand's disease.
renal diabetes
DEFINITION:
Renal glycosuria.
nephrogenic diabetes insipidus
DEFINITION:
A syndrome of polyuria and hyposthenuria caused by the 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. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.
DI
DEFINITION:
Diabetes insipidus.
antidiuretic hormone
DEFINITION:
See vasopressin.
antidiuretic hormone
DEFINITION:
See vasopressin.
arginine vasopressin
DEFINITION:
Vasopressin containing arginine, as that from most mammals, including man.
AVP
DEFINITION:
Arginine vasopressin.
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.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
AVP
DEFINITION:
Arginine vasopressin.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
G
DEFINITION:
As G - Symbol for "gauss," "giga-," "gravida," and "guanine" or "guanosine."
As G - Symbol for "conductance," "gravitational constant," "Gibbs free energy," and "G force."
As g - Symbol for "gram."
As g - Symbol for "standard gravity."
J
DEFINITION:
Symbol for joule .
variant
DEFINITION:
1. Something that differs in some characteristic from the class to which it belongs; as a variant of a disease, trait, species, etc.
2. Exhibiting such variation.
familial
DEFINITION:
Occurring in or affecting more members of a family than would be expected by chance.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
characterized
DEFINITION:
Marked or distinguished as a 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).
variant
DEFINITION:
1. Something that differs in some characteristic from the class to which it belongs; as a variant of a disease, trait, species, etc.
2. Exhibiting such variation.
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).
J
DEFINITION:
Symbol for joule .
localized
DEFINITION:
Not general; restricted to a limited region or to one or more spots.
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.
mutated
DEFINITION:
1. Changed in form, quality, or some other characteristic. 2. In genetics, having undergone a permanent transmissible change in the genetic material, usually in a single gene. Also, an individual exhibiting such a change.
inherited NDI
DEFINITION:
NDI due to a gene mutation passed from parent(s) to child.
vasopressin-2 receptor
DEFINITION:
The molecular structure within a cell or on the surface 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.
cell line
DEFINITION:
A group of animal cells derived from a primary culture at the time of first subculture; it is considered to be an established cell line when it demonstrates the potential for indefinite subculture in vitro.
expressing
DEFINITION:
1. Indicating the flow of genetic information from gene to protein.
2. Regulating the process by which the effects of a gene are manifested.
3. Manifesting a heritable trait in an individual carrying the gene or genes that determine it.
V2 receptor
DEFINITION:
See under receptor .
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
dDAVP
DEFINITION:
Also DDAVP. Trademark for preparation of desmopressin.
AVP
DEFINITION:
Arginine vasopressin.
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.
cDNA
DEFINITION:
Complementary DNA or copy DNA.
V2 receptor
DEFINITION:
See under receptor .
clone
DEFINITION:
1. One or a group of genetically identical cells, organisms, or plants derived by vegetative reproduction from a single parent; also, a DNA population derived from a single hybrid DNA molecule by replication in a eukaryotic or bacterial host cell.
2. Used as a verb to denote the establishment of a clone.
vasopressin V2 receptor
DEFINITION:
The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.
nephrogenic diabetes insipidus
DEFINITION:
A syndrome of polyuria and hyposthenuria caused by the 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. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.
mutated
DEFINITION:
1. Changed in form, quality, or some other characteristic. 2. In genetics, having undergone a permanent transmissible change in the genetic material, usually in a single gene. Also, an individual exhibiting such a change.
V2R
DEFINITION:
Vasopressin-2 receptor.
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.
X-linked NDI
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.
deduced
DEFINITION:
1. Derived by reasoning; inferred.
2. Traced the course of.
V2R
DEFINITION:
Vasopressin-2 receptor.
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).
regulated
DEFINITION:
1. Having been adjusted to a certain standard.
2. In biology, describing the adaptation of form or behavior of an organism to changed conditions.
water channel
DEFINITION:
A channel in the plasma membrane of plant and animal cells that permits passage of water molecules; chemical substances such as vasopressin cause the opening of new channels and increase permeability.
AQP2
DEFINITION:
Aquaporin-2.
cDNA
DEFINITION:
Complementary DNA or copy DNA.
V2 receptor
DEFINITION:
See under receptor .
cDNA
DEFINITION:
Complementary DNA or copy DNA.
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.
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.
mapped
DEFINITION:
1. Having created on a flat surface a representation of an area, showing the relative position of various features.
2. Having located the relative position of genes on chromosomes.
X chromosome
DEFINITION:
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in man and other male-heterogametic species.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
mapped
DEFINITION:
1. Having created on a flat surface a representation of an area, showing the relative position of various features.
2. Having located the relative position of genes on chromosomes.
genetic
DEFINITION:
1. Relating to or determined by the origin, development, or causal antecedents of something.
2. Of, relating to, or being a gene.
linkage analysis
DEFINITION:
An analytical examination of the connection between different atoms in a chemical compound, or, in genetics, the association of genes having loci on the same chromosome, which results in the tendency of a group of such nonallelic genes to be associated in inheritance.
mutations
DEFINITION:
1. Changes in form, quality, or some other characteristic.
2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.
See definitions for individual types of mutations under "mutation."
V2 receptor
DEFINITION:
See under 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.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
characterized
DEFINITION:
Marked or distinguished as a characteristic.
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.
mutations
DEFINITION:
1. Changes in form, quality, or some other characteristic.
2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.
See definitions for individual types of mutations under "mutation."
in vitro
DEFINITION:
Within a glass; observable in a test tube; in an artificial environment.
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.
molecular biology
DEFINITION:
The study of molecular structures and events underlying biological processes, including the relation between genes and the functional characteristics they determine.
biochemistry
DEFINITION:
The chemistry of living organisms and of vital processes; physiological chemistry.
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.
mutations
DEFINITION:
1. Changes in form, quality, or some other characteristic.
2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.
See definitions for individual types of mutations under "mutation."
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
cDNA
DEFINITION:
Complementary DNA or copy DNA.
AQP2
DEFINITION:
Aquaporin-2.
cDNA
DEFINITION:
Complementary DNA or copy DNA.
AQP2
DEFINITION:
Aquaporin-2.
mutations
DEFINITION:
1. Changes in form, quality, or some other characteristic.
2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.
See definitions for individual types of mutations under "mutation."
AQP2 gene
DEFINITION:
Aquaporin-2 gene.
recessive
DEFINITION:
1. Tending to recede; not exerting a ruling or controlling influence; in genetics, incapable of expression unless the responsible allele is carried by both members of a pair of homologous chromosomes. 2. A recessive allele or trait.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
AQP2 gene
DEFINITION:
Aquaporin-2 gene.
mapped
DEFINITION:
1. Having created on a flat surface a representation of an area, showing the relative position of various features.
2. Having located the relative position of genes on chromosomes.
long arm
DEFINITION:
The longer of the two segments of the chromosome separated by the centromere; the symbol p indicates the short arm and q the long arm.
AQP2
DEFINITION:
Aquaporin-2.
association
DEFINITION:
1. A state in which two attributes occur together either more or less often than expected by chance.
2. In neurology, a term applied to those regions of the brain that link the primary motor and sensory cortices; see association areas.
3. In genetics, the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.
4. In psychiatry, a connection between ideas or feelings, especially between conscious thoughts and elements of the unconscious, or the formation of such a connection.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
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.
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).
recessive NDI
DEFINITION:
Recessive nephrogenic diabetes insipidus.
transport
DEFINITION:
The movement of materials in biological systems, particularly into and out of cells and across epithelial layers.
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.
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.
mutation
DEFINITION:
1. A change in form, quality, or some other characteristic.
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.
AQP2 gene
DEFINITION:
Aquaporin-2 gene.
NDI
DEFINITION:
Nephrogenic diabetes insipidus.
transport
DEFINITION:
The movement of materials in biological systems, particularly into and out of cells and across epithelial layers.
protein
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).
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.
Golgi Complex
DEFINITION:
A complex cup-like structure within cells, made up of several elements, each consisting of a number of flattened sacs (cisternae) with associated vacuoles and vesicles. Golgi complexes are membrane sites of the formation of the carbohydrate side chains of glycoproteins and mucopolysaccharides, and of other substances. The secretion vacuoles migrate through the cell membrane and release the glycoproteins and mucopolysaccharides, and thus play a role in internal and external secretion. Cytochemical studies have shown that they are also sites of formation of primary lysosomes and give rise to the acrosome of spermatozoa and the nematocyst of Hydra. Called also Golgi apparatus and Golgi body.
mutations
DEFINITION:
1. Changes in form, quality, or some other characteristic.
2. In genetics, permanent transmissible changes in the genetic material, usually in a single gene.
See definitions for individual types of mutations under "mutation."
