Integrated Project funded by the
European Community,
Framework Programme 6

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Affinity Chromatography
Technique to purify proteins. Usually an antibody is bound to a support material. The solution containing the unpurified protein is passed along the support material and the antibody binds only the protein of interest.

Antibodies
Antibodies are a central part of the immune system to counter infectious agents or biological material foreign to the body.
Antibodies are used as a marker for a specific protein. They are usually created by injecting a mouse or rabbit with the protein against which an antibody is needed. The immune system of the animal will respond by producing the antibody which can then be isolated from the blood of the animal.

Candidate Gene
A gene suspected to be involved in a genetic disease or disorder.

Cell Line
This is a general term applied to a defined population of cells which has been maintained in a culture for an extended period and which has usually undergone a spontaneous process of transformation conferring an unlimited culture lifespan on the cells. These cell lines are often used to study the function of a gene before studying the gene in animal models.

Complex Genetics
If a disease or disorder is caused by mutations in a single gene it is called genetic or monogenic. In many cases however, mutations in several genes contribute to the disease or disorder as well as environmental factors; in those cases, the term ‘complex genetics’ is used.

Consortium
A group of laboratories and or companies working together.

Endocytic Receptors
Proteins on the surface of cells that transport metabolites (intermediates of the digestion process), hormones or signaling molecules into cells.

ENU Mutagenesis
Is a technique to create mouse models. Mice are treated with the chemical ENU which is a very powerful and effective mutagen. It induces mutations in the germ line of the mice. The offspring of these mice are then screened for abnormalities using an approach that very much takes the form of a human clinical investigation. The dose of ENU is adjusted and refined so that the treated animals remain healthy, fertile, and capable of a lifetime of producing offspring.

Expression Profiling
Gene expression profiling provides a snapshot of the genes expressed in specific tissues of specific organisms at specific points in time. This snapshot tells an investigator where, when, and to what extent a particular gene is expressed (see gene expression) in a cell, tissue, or organism and what physiological pathways are active in the cell.

Fluorescence Depolarization and BIAcore Analysis
This is a technique to detect whether other proteins are interacting with the protein of interest.

Functional Genomics
Functional genomics refers to establishing a link between gene expression and cell/ organ/ tissue function/ dysfunction.

Gain-of-function
Refers to an increased activity of a gene. Most often due to a genetic variation.

Gene Expression
Realization of a gene product. When a gene is active and is producing the protein or messenger (mRNA) it encodes, the gene is said to be ‘expressed’.

Gene Expression Atlas
A (digital) overview of information on the expression of many different genes.

Gene Inactivation
Refers to a suppressed or abolished activity of a gene. For example due to a genetic variation.

Genome
A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves.

Glomerulus
The functional units in the kidney that filter urine from the blood.

Glomerulosclerosis
Is a general term to describe scarring of the kidneys' tiny blood vessels, the glomeruli. One sign of glomerulosclerosis is proteinuria (larger amounts of protein appearing in the urine) because the scarring disturbs the kidneys' filtering process and allows protein to leak from the blood into the urine.

Hemodynamics
Hemodynamics is concerned with the forces generated by the heart and the motion of blood through the cardiovascular system.

Human Genome Project
Over 1,000 scientists in 40 countries were involved in this project. It aims to characterize the structure, function and regulation of human genes, especially those relevant in medicine. It’s main objectives were to: identify all the approximately 20,000-25,000 genes in human DNA and: determine the sequences of the 3 billion chemical base pairs that make up human DNA. It was finished in 2003 (mostly).

Immunohistochemistry
Immunohistochemistry is a method of detecting the presence of specific proteins in cells or tissues.

In situ Hybridisation (ISH)
In situ hybridisation is a method for detecting messenger RNA (mRNA) or DNA in a tissue. Using this kind of staining, only those cells are stained (hybridized) in which the gene under investigation is active an thus contain its mRNA.

Ion Channels and Transporters
Ion channels allow controlled passage of ions (like sodium, potassium, chloride) in and out of the cell. Since ions are small enough to pass the glomerulus during filtration of the blood, they are regained from the filtrate through ion channels and transporters. Whereas ion channels function like a gate to let ions flow through, transporters can function as a pump (which requires energy) to keep certain ions in or out of the cell.

Knockout
A knock-out mouse is a mouse in which a targeted gene has been disrupted. This manipulation is done in stem cells, that are then placed back into the germ line of a mouse. With the help of the genetically manipulated animals, biological processes that occur during disease can be studied.

Knockdown
Refers to (partial) repression of the activity of a gene to simulate the situation in which the gene is absent or inactive due to a mutation.

Mass spectrometry
Is a technique that is used to identify and quantify unknown compounds, and to find out the structure and chemical properties of molecules.

Microarray
In general you can think of a microarray as a grid of DNA spots. The DNA in each spot is from a gene of interest. It is used to quantify the mRNA encoded by that gene within a certain tissue or cells (which is an indication of the genes activity).

Modifier QTLs
A QTL is a Quantitative Trait Locus. It is a variable spot on the genome that influences a certain trait. Searching for (or mapping of) these spots is very helpful in finding genes for diseases in which more than one gene is involved. Because the trait is not caused by one single gene, each gene involved is said to modify the trait.

Morphology
Internal structure.

mRNA
Is the intermediate between genetic information stored in a gene and the protein that is encoded by it. One of the ways in which the activity of a gene is controlled is by the amount of mRNA that is produced from it.

Nephrotoxicity
Refers to something being toxic to the kidney, usually leading to kidney damage.

Optical Projection Tomography (OPT)
A microscopic imaging technique to create 3D images without the need to cut (section) the specimen into thin layers.

Overexpression
Refers to an increased activity of a gene. This occurs for example when an extra gene copy is introduced to cells in culture, to study the function of the gene.

Pathophysiology
Physiology is the study of how animals and humans work. Pathophysiology is the study of how processes go wrong due to a disease.

Protein Gel Electrophoresis
Is a technique to separate proteins based on their size and or charge.

Proteinuria
Proteinuria means the appearance of protein in the urine. Proteinuria is an indicator that the kidneys are damaged in some way.

Renal
Referring to the kidney.

Spatio-temporal
Spatio means space or three dimensional. Temporal means relating to time. Spaciotemporal could therefore be translated as four dimensional.

Stem Cells
Stem cells are unspecialized cells that can be changed into specialized cells in the body. This means they are not yet in such a form that they are specialized for a specific task in the body (such as for example skin or liver cells), rather their use is still open. Stem cells can multiply to create mote stem cells or develop into specialized cells.

Transcription Factors
Are small molecules that control the activity of a gene by influencing the amount of mRNA that is made from it.

Transcriptome
A transcriptome is a collection of all the gene transcripts (mRNAs) present in a given cell. It is a representation of all the active genes within that cell.

Two-hybrid Screening
Is a technique to identify proteins that interact with each other.