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129 relations: Active site, Adenylyl cyclase, Alternative splicing, Amino acid, Antibody, Apolipoprotein B, Arginine, Astrocyte, AU-rich element, Auditory brainstem response, B cell, Base pair, Beta sheet, Blood plasma, Breast cancer, C-terminus, CAAT box, Café au lait spot, CASK, Caveolin 1, Cell nucleus, Central nervous system, Chromosome 17, Citrobacter, Clinical chemistry, Complementary DNA, Consensus sequence, CpG site, CREB, Cytidine, Cytoplasm, Cytosine, Deamination, Dominance (genetics), Dual-energy X-ray absorptiometry, ELAV-like protein 1, Enzyme, EVI2B, Exon, Exon skipping, Five prime untranslated region, GeneCards, General transcription factor, Genetic code, Genetic disorder, Genetic engineering, Genetic screen, Genetic variation, Genome, Genomic DNA, ..., Glucose tolerance test, Glycoprotein, GRIN2B, GTPase-activating protein, Guanidine, Guanosine triphosphate, Hematology, Homology (biology), Hot plate test, Hydrolysis, Indirect calorimetry, International Knockout Mouse Consortium, Intron, Juvenile myelomonocytic leukemia, Knockout mouse, Leukemia, Ligand, Lipid, Lisch nodule, Messenger RNA, Methylation, Micronucleus test, Model organism, Monocyte, Mutant, Mutation, Myelin, N-terminus, Neurofibroma, Neurofibromatosis type I, Neuron, Nuclear localization sequence, Nucleotide, Oligodendrocyte, OMG (gene), Omnipresence, Open field (animal test), Open reading frame, Optic nerve glioma, Peripheral blood lymphocyte, Phenotype, Phenotypic screening, Pleckstrin homology domain, Point mutation, Polyadenylation, Post-transcriptional regulation, Promoter (genetics), Protein isoform, Pseudogene, Radiography, RAS p21 protein activator 1, Ras subfamily, Ras superfamily, RNA, RNA splicing, Salmonella, Schwann cell, SEC14L2, Skin, Solitary neurofibroma, Sp1 transcription factor, Splicing regulatory element, SPRED1, Start codon, Stop codon, Syndecan, TATA box, Teratology, Three prime untranslated region, Transcription (biology), Translation (biology), Trk receptor, Tumor antigen, Unified atomic mass unit, Uridine, Watson syndrome, Weaning, White blood cell, Zygosity. Expand index (79 more) »
Active site
In biology, the active site is the region of an enzyme where substrate molecules bind and undergo a chemical reaction.
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Adenylyl cyclase
Adenylyl cyclase (also commonly known as adenyl cyclase and adenylate cyclase, abbreviated AC) is an enzyme with key regulatory roles in essentially all cells.
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Alternative splicing
Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins.
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Amino acid
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
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Antibody
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein produced mainly by plasma cells that is used by the immune system to neutralize pathogens such as pathogenic bacteria and viruses.
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Apolipoprotein B
Apolipoprotein B (ApoB) is a protein that in humans is encoded by the APOB gene.
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Arginine
Arginine (symbol Arg or R) is an α-amino acid that is used in the biosynthesis of proteins.
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Astrocyte
Astrocytes (Astro from Greek astron.
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AU-rich element
Adenylate-uridylate-rich elements (AU-rich elements; AREs) are found in the 3' untranslated region (UTR) of many messenger RNAs (mRNAs) that code for proto-oncogenes, nuclear transcription factors, and cytokines.
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Auditory brainstem response
The auditory brainstem response (ABR) is an auditory evoked potential extracted from ongoing electrical activity in the brain and recorded via electrodes placed on the scalp.
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B cell
B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype.
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Base pair
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
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Beta sheet
The β-sheet (also β-pleated sheet) is a common motif of regular secondary structure in proteins.
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Blood plasma
Blood plasma is a yellowish coloured liquid component of blood that normally holds the blood cells in whole blood in suspension; this makes plasma the extracellular matrix of blood cells.
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Breast cancer
Breast cancer is cancer that develops from breast tissue.
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C-terminus
The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein or polypeptide), terminated by a free carboxyl group (-COOH).
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CAAT box
In molecular biology, a CCAAT box (also sometimes abbreviated a CAAT box or CAT box) is a distinct pattern of nucleotides with GGCCAATCT consensus sequence that occur upstream by 60–100 bases to the initial transcription site.
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Café au lait spot
Café au lait spots or café au lait macules are flat, pigmented birthmarks.
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CASK
Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene.
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Caveolin 1
Caveolin-1 is a protein that in humans is encoded by the CAV1 gene.
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Cell nucleus
In cell biology, the nucleus (pl. nuclei; from Latin nucleus or nuculeus, meaning kernel or seed) is a membrane-enclosed organelle found in eukaryotic cells.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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Chromosome 17
Chromosome 17 is one of the 23 pairs of chromosomes in humans.
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Citrobacter
Citrobacter is a genus of Gram-negative coliform bacteria in the Enterobacteriaceae family.
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Clinical chemistry
Clinical chemistry (also known as chemical pathology, clinical biochemistry or medical biochemistry) is the area of chemistry that is generally concerned with analysis of bodily fluids for diagnostic and therapeutic purposes.
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Complementary DNA
In genetics, complementary DNA (cDNA) is DNA synthesized from a single stranded RNA (e.g., messenger RNA (mRNA) or microRNA) template in a reaction catalyzed by the enzyme reverse transcriptase.
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Consensus sequence
In molecular biology and bioinformatics, the consensus sequence (or canonical sequence) is the calculated order of most frequent residues, either nucleotide or amino acid, found at each position in a sequence alignment.
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CpG site
The CpG sites or CG sites are regions of DNA where a cytosine nucleotide is followed by a guanine nucleotide in the linear sequence of bases along its 5' → 3' direction.
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CREB
CREB (cAMP response element-binding protein) is a cellular transcription factor.
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Cytidine
Cytidine is a nucleoside molecule that is formed when cytosine is attached to a ribose ring (also known as a ribofuranose) via a β-N1-glycosidic bond.
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Cytoplasm
In cell biology, the cytoplasm is the material within a living cell, excluding the cell nucleus.
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Cytosine
Cytosine (C) is one of the four main bases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA).
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Deamination
Deamination is the removal of an amine group from a protein molecule.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Dual-energy X-ray absorptiometry
Dual-energy X-ray absorptiometry (DXA, previously DEXA) is a means of measuring bone mineral density (BMD).
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ELAV-like protein 1
ELAV-like protein 1 or HuR (human antigen R) is a protein that in humans is encoded by the ELAVL1 gene.
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Enzyme
Enzymes are macromolecular biological catalysts.
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EVI2B
Protein EVI2B is a protein that in humans is encoded by the EVI2B gene.
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Exon
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
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Exon skipping
In molecular biology, exon skipping is a form of RNA splicing used to cause cells to “skip” over faulty or misaligned sections of genetic code, leading to a truncated but still functional protein despite the genetic mutation.
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Five prime untranslated region
The 5′ untranslated region (5′ UTR) (also known as a leader sequence or leader RNA) is the region of an mRNA that is directly upstream from the initiation codon.
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GeneCards
GeneCards is a database of human genes that provides genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes.
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General transcription factor
General transcription factors (GTFs), also known as basal transcriptional factors, are a class of protein transcription factors that bind to specific sites (promoter) on DNA to activate transcription of genetic information from DNA to messenger RNA.
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Genetic code
The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or mRNA sequences) into proteins.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genetic engineering
Genetic engineering, also called genetic modification or genetic manipulation, is the direct manipulation of an organism's genes using biotechnology.
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Genetic screen
A genetic screen or mutagenesis screen is an experimental technique used to identify and select for individuals who possess a phenotype of interest in a mutagenized population.
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Genetic variation
Genetic variation means that biological systems – individuals and populations – are different over space.
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Genome
In the fields of molecular biology and genetics, a genome is the genetic material of an organism.
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Genomic DNA
Genomic deoxyribonucleic acid is chromosomal DNA, in contrast to extra-chromosomal DNAs like plasmids.
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Glucose tolerance test
The glucose tolerance test is a medical test in which glucose is given and blood samples taken afterward to determine how quickly it is cleared from the blood.
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Glycoprotein
Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains.
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GRIN2B
Glutamate receptor subunit epsilon-2, also known as N-methyl D-aspartate receptor subtype 2B (NMDAR2B or NR2B), is a protein that in humans is encoded by the GRIN2B gene.
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GTPase-activating protein
GTPase-activating proteins or GTPase-accelerating proteins (GAPs) are a family of regulatory proteins whose members can bind to activated G proteins and stimulate their GTPase activity, with the result of terminating the signaling event.
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Guanidine
Guanidine is the compound with the formula HNC(NH2)2.
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Guanosine triphosphate
Guanosine-5'-triphosphate (GTP) is a purine nucleoside triphosphate.
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Hematology
Hematology, also spelled haematology, is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood.
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Homology (biology)
In biology, homology is the existence of shared ancestry between a pair of structures, or genes, in different taxa.
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Hot plate test
The hot plate test is a test of the pain response in animals, similar to the tail flick test.
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Hydrolysis
Hydrolysis is a term used for both an electro-chemical process and a biological one.
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Indirect calorimetry
Indirect calorimetry calculates heat that living organisms produce by measuring either their production of carbon dioxide and nitrogen waste (frequently ammonia in aquatic organisms, or urea in terrestrial ones), or from their consumption of oxygen.
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International Knockout Mouse Consortium
The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to create knockout mice to study.
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Intron
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.
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Juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects children mostly aged 4 and younger.
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Knockout mouse
A knockout mouse or knock-out mouse is a genetically modified mouse (Mus musculus) in which researchers have inactivated, or "knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA.
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Leukemia
Leukemia, also spelled leukaemia, is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells.
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Ligand
In coordination chemistry, a ligand is an ion or molecule (functional group) that binds to a central metal atom to form a coordination complex.
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Lipid
In biology and biochemistry, a lipid is a biomolecule that is soluble in nonpolar solvents.
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Lisch nodule
Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris, named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937.
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Messenger RNA
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
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Methylation
In the chemical sciences, methylation denotes the addition of a methyl group on a substrate, or the substitution of an atom (or group) by a methyl group.
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Micronucleus test
A micronucleus test is a test used in toxicological screening for potential genotoxic compounds.
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Model organism
A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms.
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Monocyte
Monocytes are a type of leukocyte, or white blood cell.
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Mutant
In biology and especially genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is an alteration of the DNA sequence of a gene or chromosome of an organism.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Myelin
Myelin is a lipid-rich substance that surrounds the axon of some nerve cells, forming an electrically insulating layer.
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N-terminus
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide referring to the free amine group (-NH2) located at the end of a polypeptide.
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Neurofibroma
A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system.
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Neurofibromatosis type I
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Nuclear localization sequence
A nuclear localization signal or sequence (NLS) is an amino acid sequence that 'tags' a protein for import into the cell nucleus by nuclear transport.
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Nucleotide
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
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Oligodendrocyte
Oligodendrocytes, or oligodendroglia,.
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OMG (gene)
Oligodendrocyte-myelin glycoprotein is a protein that in humans is encoded by the OMG gene.
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Omnipresence
Omnipresence or ubiquity is the property of being present everywhere.
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Open field (animal test)
Developed by Calvin S. Hall, the open field test is an experimental test used to assay general locomotor activity levels, anxiety, and willingness to explore in animals (usually rodents) in scientific research.
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Open reading frame
In molecular genetics, an open reading frame (ORF) is the part of a reading frame that has the ability to be translated.
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Optic nerve glioma
Optic nerve glioma (or optic glioma), a form of glioma which affects the optic nerve, is often one of the central nervous system manifestations of Neurofibromatosis 1.
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Peripheral blood lymphocyte
Peripheral blood lymphocytes (PBL) are mature lymphocytes that circulate in the blood, rather than localising to organs (such as the spleen or lymph nodes).
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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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Phenotypic screening
Phenotypic screening is a type of screening used in biological research and drug discovery to identify substances such as small molecules, peptides, or RNAi that alter the phenotype of a cell or an organism in a desired manner.
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Pleckstrin homology domain
Pleckstrin homology domain (PH domain) is a protein domain of approximately 120 amino acids that occurs in a wide range of proteins involved in intracellular signaling or as constituents of the cytoskeleton.
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Point mutation
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.
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Polyadenylation
Polyadenylation is the addition of a poly(A) tail to a messenger RNA.
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Post-transcriptional regulation
Italic textÀ Post-transcriptional regulation is the control of gene expression at the RNA level, therefore between the transcription and the translation of the gene.
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Promoter (genetics)
In genetics, a promoter is a region of DNA that initiates transcription of a particular gene.
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Protein isoform
A protein isoform, or "protein variant" is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences.
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Pseudogene
Pseudogenes are segments of DNA that are related to real genes.
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Radiography
Radiography is an imaging technique using X-rays to view the internal form of an object.
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RAS p21 protein activator 1
RAS p21 protein activator 1 or RasGAP (Ras GTPase activating protein), also known as RASA1, is a 120-kDa cytosolic human protein that provides two principal activities.
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Ras subfamily
Ras is a family of related proteins which is expressed in all animal cell lineages and organs.
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Ras superfamily
The Ras superfamily is a protein superfamily of small GTPases.
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RNA
Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation, and expression of genes.
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RNA splicing
In molecular biology, splicing is the editing of the nascent precursor messenger RNA (pre-mRNA) transcript into a mature messenger RNA (mRNA).
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Salmonella
Salmonella is a genus of rod-shaped (bacillus) Gram-negative bacteria of the family Enterobacteriaceae.
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Schwann cell
Schwann cells (named after physiologist Theodor Schwann) or neurolemmocytes are the principal glia of the peripheral nervous system (PNS).
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SEC14L2
SEC14-like protein 2 is a protein that in humans is encoded by the SEC14L2 gene.
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Skin
Skin is the soft outer tissue covering vertebrates.
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Solitary neurofibroma
A solitary neurofibroma (also known as a "Solitary nerve sheath tumor," and "Sporadic neurofibroma") may be 2 to 20mm in diameter, is soft, flaccid, and pinkish-white, and frequently this soft small tumor can be invaginated, as if through a ring in the skin by pressure with the finger, a maneuver called "button-holing."James, William; Berger, Timothy; Elston, Dirk (2005).
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Sp1 transcription factor
Transcription factor Sp1, also known as specificity protein 1* is a protein that in humans is encoded by the SP1 gene.
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Splicing regulatory element
Splicing regulatory element (SRE) are cis-acting sequences in pre-mRNA, which either enhance or silence (suppress) the splicing of introns, or in general regulates the constitutive or alternative splicing of this pre-mRNA.
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SPRED1
Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a protein that in humans is encoded by the SPRED1 gene located on chromosome 15q13.2 and has seven coding exons.
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Start codon
The start codon is the first codon of a messenger RNA (mRNA) transcript translated by a ribosome.
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Stop codon
In the genetic code, a stop codon (or termination codon) is a nucleotide triplet within messenger RNA that signals a termination of translation into proteins.
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Syndecan
Syndecans are single transmembrane domain proteins that are thought to act as coreceptors, especially for G protein-coupled receptors.
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TATA box
In molecular biology, the TATA box (also called the Goldberg-Hogness box) is a sequence of DNA found in the core promoter region of genes in archaea and eukaryotes.
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Teratology
Teratology is the study of abnormalities of physiological development.
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Three prime untranslated region
In molecular genetics, the three prime untranslated region (3'-UTR) is the section of messenger RNA (mRNA) that immediately follows the translation termination codon.
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Transcription (biology)
Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.
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Translation (biology)
In molecular biology and genetics, translation is the process in which ribosomes in the cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.
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Trk receptor
Trk receptors are a family of tyrosine kinases that regulates synaptic strength and plasticity in the mammalian nervous system.
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Tumor antigen
Tumor antigen is an antigenic substance produced in tumor cells, i.e., it triggers an immune response in the host.
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Unified atomic mass unit
The unified atomic mass unit or dalton (symbol: u, or Da) is a standard unit of mass that quantifies mass on an atomic or molecular scale (atomic mass).
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Uridine
Uridine is a glycosylated pyrimidine-analog containing uracil attached to a ribose ring (or more specifically, a ribofuranose) via a β-N1-glycosidic bond.
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Watson syndrome
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.
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Weaning
Weaning is the process of gradually introducing an infant mammal to what will be its adult diet and withdrawing the supply of its mother's milk.
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White blood cell
White blood cells (WBCs), also called leukocytes or leucocytes, are the cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders.
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Zygosity
Zygosity is the degree of similarity of the alleles for a trait in an organism.
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Redirects here:
NF1 (gene), NF1 (protein), Nf1, VRNF.
References
[1] https://en.wikipedia.org/wiki/Neurofibromin_1
