Mutant Proteins: Proteins produced from GENES that have acquired MUTATIONS.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Bacterial Proteins: Proteins found in any species of bacterium.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Kinetics: The rate dynamics in chemical or physical systems.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genes, Bacterial: The functional hereditary units of BACTERIA.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Fungal Proteins: Proteins found in any species of fungus.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Arabidopsis Proteins: Proteins that originate from plants species belonging to the genus ARABIDOPSIS. The most intensely studied species of Arabidopsis, Arabidopsis thaliana, is commonly used in laboratory experiments.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Structure-Activity Relationship: The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Mice, Inbred C57BLPolymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Drug Resistance, Microbial: The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).Cell Membrane: The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.Viral Proteins: Proteins found in any species of virus.NitrosoguanidinesVirus Replication: The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.Cercopithecus aethiops: A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.COS Cells: CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)Cysteine: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.Repressor Proteins: Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Genetics, Microbial: A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Substrate Specificity: A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Culture Media: Any liquid or solid preparation made specifically for the growth, storage, or transport of microorganisms or other types of cells. The variety of media that exist allow for the culturing of specific microorganisms and cell types, such as differential media, selective media, test media, and defined media. Solid media consist of liquid media that have been solidified with an agent such as AGAR or GELATIN.Salmonella typhimurium: A serotype of Salmonella enterica that is a frequent agent of Salmonella gastroenteritis in humans. It also causes PARATYPHOID FEVER.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Operon: In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.Homozygote: An individual in which both alleles at a given locus are identical.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Protein Structure, Secondary: The level of protein structure in which regular hydrogen-bond interactions within contiguous stretches of polypeptide chain give rise to alpha helices, beta strands (which align to form beta sheets) or other types of coils. This is the first folding level of protein conformation.Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Green Fluorescent Proteins: Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.Transformation, Genetic: Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Genes, Plant: The functional hereditary units of PLANTS.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.Animals, Genetically Modified: ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.Gene Knockout Techniques: Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.Catalysis: The facilitation of a chemical reaction by material (catalyst) that is not consumed by the reaction.Electrophoresis, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.DNA Replication: The process by which a DNA molecule is duplicated.CHO Cells: CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.Nerve Tissue ProteinsUltraviolet Rays: That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants.Zebrafish: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Morphogenesis: The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.Hot Temperature: Presence of warmth or heat or a temperature notably higher than an accustomed norm.Transduction, Genetic: The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Bacillus subtilis: A species of gram-positive bacteria that is a common soil and water saprophyte.Ethyl Methanesulfonate: An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Protein Processing, Post-Translational: Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.Histidine: An essential amino acid that is required for the production of HISTAMINE.Hydrogen-Ion Concentration: The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Caenorhabditis elegans Proteins: Proteins from the nematode species CAENORHABDITIS ELEGANS. The proteins from this species are the subject of scientific interest in the area of multicellular organism MORPHOGENESIS.Cytoplasm: The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.Genes, Viral: The functional hereditary units of VIRUSES.Amino Acid Motifs: Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Microscopy, Electron: Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Microscopy, Fluorescence: Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.Bacterial Outer Membrane Proteins: Proteins isolated from the outer membrane of Gram-negative bacteria.Virulence Factors: Those components of an organism that determine its capacity to cause disease but are not required for its viability per se. Two classes have been characterized: TOXINS, BIOLOGICAL and surface adhesion molecules that effect the ability of the microorganism to invade and colonize a host. (From Davis et al., Microbiology, 4th ed. p486)Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Plants, Genetically Modified: PLANTS, or their progeny, whose GENOME has been altered by GENETIC ENGINEERING.Dimerization: The process by which two molecules of the same chemical composition form a condensation product or polymer.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Plant Roots: The usually underground portions of a plant that serve as support, store food, and through which water and mineral nutrients enter the plant. (From American Heritage Dictionary, 1982; Concise Dictionary of Biology, 1990)Dose-Response Relationship, Drug: The relationship between the dose of an administered drug and the response of the organism to the drug.Lysine: An essential amino acid. It is often added to animal feed.Protein Folding: Processes involved in the formation of TERTIARY PROTEIN STRUCTURE.Mice, Inbred BALB CGenes, Regulator: Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.Immunoblotting: Immunologic method used for detecting or quantifying immunoreactive substances. The substance is identified by first immobilizing it by blotting onto a membrane and then tagging it with labeled antibodies.Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.Cell Wall: The outermost layer of a cell in most PLANTS; BACTERIA; FUNGI; and ALGAE. The cell wall is usually a rigid structure that lies external to the CELL MEMBRANE, and provides a protective barrier against physical or chemical agents.Catalytic Domain: The region of an enzyme that interacts with its substrate to cause the enzymatic reaction.Arginine: An essential amino acid that is physiologically active in the L-form.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.Crystallography, X-Ray: The study of crystal structure using X-RAY DIFFRACTION techniques. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Light: That portion of the electromagnetic spectrum in the visible, ultraviolet, and infrared range.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Genes, Reporter: Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.Genetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.Flagella: A whiplike motility appendage present on the surface cells. Prokaryote flagella are composed of a protein called FLAGELLIN. Bacteria can have a single flagellum, a tuft at one pole, or multiple flagella covering the entire surface. In eukaryotes, flagella are threadlike protoplasmic extensions used to propel flagellates and sperm. Flagella have the same basic structure as CILIA but are longer in proportion to the cell bearing them and present in much smaller numbers. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Peptides: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.Oxidation-Reduction: A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Open Reading Frames: A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Oxidoreductases: The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Schizosaccharomyces: A genus of ascomycetous fungi of the family Schizosaccharomycetaceae, order Schizosaccharomycetales.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.Rats, Mutant Strains: Rats bearing mutant genes which are phenotypically expressed in the animals.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Enzyme Stability: The extent to which an enzyme retains its structural conformation or its activity when subjected to storage, isolation, and purification or various other physical or chemical manipulations, including proteolytic enzymes and heat.Protein Biosynthesis: The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.Pan troglodytes: The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.Hydrolysis: The process of cleaving a chemical compound by the addition of a molecule of water.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Transcriptional Activation: Processes that stimulate the GENETIC TRANSCRIPTION of a gene or set of genes.Cricetulus: A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.Asparagine: A non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed)In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
Human Mutant. Team affiliations. Hellions training squad. New X-Men. Xavier Institute. X-Men-In-Training. Jean Grey School ... Despite his relationship with Sofia, he is particularly hard on her New Mutant teammates like David Alleyne, the New Mutants' ... Hellion participates in a battle to protect the mutant messiah, Hope, and the remaining mutants on Utopia against Bastion's ... New Mutants, vol. 2/Academy X[edit]. Born in Los Angeles, California, to parents who managed to work their way out of poverty ...
... mutant monsters; and Supers, humans with super-powers. Mutazoids was first published by Whit Productions Inc. in 1989. ...
... the mutant Storm; the Thing and the Human Torch). Psycho-Man is killed by the Red Hulk during a tournament organized by the ... The plan, however, is thwarted by Fantastic Four members the Human Torch and the Thing, by the Royal Family of the Inhumans and ... The character reappears in the title Fantastic Four when Mister Fantastic; the Human Torch and the Thing travel to Psycho-Man's ... Using a portable device capable of influencing people's emotions, Psycho-Man enslaves a number of human subjects to build a ...
2arq: Human plasminogen activator inhibitor-2.[loop (66-98) deletion mutant] complexed with peptide n-acetyl-teaaagdggvmtgr-oh ... 2arr: Human plasminogen activator inhibitor-2.[loop (66-98) deletion mutant] complexed with peptide n-acetyl-teaaagmggvmtgr-oh ... Like other serpins, PAI-2 has three beta sheets (A, B, C) and nine alpha helices (hA-hI).[6][7] The structure of PAI-2 mutants ... Ye RD, Ahern SM, Le Beau MM, Lebo RV, Sadler JE (April 1989). "Structure of the gene for human plasminogen activator inhibitor- ...
Confusingly, Gridrunner 2 was released in the US under the name Attack of the Mutant Camels, which was also the title used for ... Beekman, George (1984). "Human Engineered Software (HesWare)". The Commodore 64 Home Companion. p. 171-172. Retrieved August 19 ... Kincaid, Scott (May 1984). "Attack of the Mutant Camels". Ahoy!. p. 59. Retrieved 27 June 2014. Stanton, Rich (2 March 2012). " ... "so if you're wondering what a mutant camel really looks like, forget it") and excellent sound effects, and concluded that it ...
Cox, Emma (October 9, 2008). "Humans scoffed by mutant fish". The Sun. Archived from the original on June 6, 2011. Retrieved 25 ... Cockcroft, Lucy (October 9, 2008). "Mutant fish develops a taste for human flesh in India". The Telegraph. Retrieved 25 July ... He was told by the villagers that the creature likely developed a taste for human flesh and had grown large after eating half ... The Kali River goonch attacks were a series of fatal attacks on humans believed to be perpetrated by man-eating goonch catfish ...
Sequence homology between human and Pfprol yield only 25% identity and 43% similarity. The two available structures of human ... Expression of the mutant enzyme in NIH 3T3 cells". The Journal of Clinical Investigation. 86 (1): 351-5. doi:10.1172/JCI114708 ... Xaa-Pro dipeptidase, also known as prolidase, is an enzyme that in humans is encoded by the PEPD gene. Xaa-Pro dipeptidase is a ... Lupi A, Tenni R, Rossi A, Cetta G, Forlino A (Nov 2008). "Human prolidase and prolidase deficiency: an overview on the ...
December 2014). "Mutant cohesin drives chromosomal instability in early colorectal adenomas". Human Molecular Genetics. 23 (25 ... Structural maintenance of chromosomes protein 1A (SMC1A) is a protein that in humans is encoded by the SMC1A gene.[5][6] SMC1A ... "European Journal of Human Genetics. 23 (10): 1431. doi:10.1038/ejhg.2014.270. PMC 4592075. PMID 25537356.. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ...
Their human form was giant-like (7 ft). They have enhanced human agility, strength (1 ton range) and vast endurance. They can ... The Mutant Master was a Siris. First seen in X-Men #37 (October 1967) (disguised as humanoid) & X-Men #39 (true form revealed ... Zenn-Lavians - A human-like species, later described as a pacifist offshoot of the Kree. Their planet, Zenn-La is third from ... Spartoi - The human-like species of Star-Lord. First seen in Marvel Preview #4. Sssth - A reptilian semi-humanoid race with ...
Transcription factor MafK is a bZip Maf transcription factor protein that in humans is encoded by the MAFK gene. MafK is one of ... Katsuoka F, Motohashi H, Tamagawa Y, Kure S, Igarashi K, Engel JD, Yamamoto M (Feb 2003). "Small Maf compound mutants display ... MAFK protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) FactorBook MafK. ... MAFK expression was detected in all 16 tissues examined by the human BodyMap Project, but relatively abundant in adipose, lung ...
... protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Katsuoka F, Motohashi H, Tamagawa Y, Kure S, Igarashi K, Engel JD, Yamamoto M (Feb 2003). "Small Maf compound mutants display ... Transcription factor MafG is a bZip Maf transcription factor protein that in humans is encoded by the MAFG gene. MafG is one of ... Blank V, Kim MJ, Andrews NC (Jun 1997). "Human MafG is a functional partner for p45 NF-E2 in activating globin gene expression ...
Ye X, Li Y, Huang Q, Yu Y, Yuan H, Wang P, Wan D, Gu J, Huo K, Li YY, Lu H (May 2006). "The novel human gene MIP functions as a ... Katsuoka F, Motohashi H, Tamagawa Y, Kure S, Igarashi K, Engel JD, Yamamoto M (Feb 2003). "Small Maf compound mutants display ... Transcription factor MafF is a bZip Maf transcription factor protein that in humans is encoded by the MAFF gene. MafF is one of ... Human MAFF gene is induced by proinflammatory cytokines, interleukin 1 beta and tumor necrosis factor in myometrial cells. ...
US gov't says mutants aren't human". Fox News. Retrieved 15 August 2017. "No Time for Mutants". USC Annenberg Online Journalism ... Marvel responded to these concerns by claiming "our heroes are living, breathing human beings - but humans who have ... Because a common theme in Marvel Comics had been the struggle for mutants like the X-Men to prove their humanity, the case ... King, Neal (January 20, 2003). "Fans Howl in Protest as Judge Decides X-Men Aren't Human". Wall Street Journal. Retrieved April ...
Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[10] No homozygous mutant ... In humans, the enzyme is encoded by the PNPT1 gene. In its active form, the protein forms a ring structure consisting of three ... It is involved in mRNA processing and degradation in bacteria, plants,[5] and in humans.[6] ... The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed ...
This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it. *v ... Dematin is a protein that in humans is encoded by the EPB49 gene.[5][6][7] ... 1996). "Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins". Biochemistry. 35 (9): 3001-6. doi: ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
Goh AM; Coffill CR; Lane DP (January 2011). "The role of mutant p53 in human cancer". J. Pathol. 223 (2): 116-26. doi:10.1002/ ... A dominant-negative mutation may arise in a human somatic cell and provide a proliferative advantage to the mutant cell, ... Dominant and recessive genetic diseases in humans[edit]. In humans, many genetic traits or diseases are classified simply as " ... For example, in humans the Hb gene locus is responsible for the Beta-chain protein (HBB) that is one of the two globin proteins ...
... in the human Lewis (FUT3) gene for expression of Lewis antigens by the human alpha(1,3/1,4)-fucosyltransferase, Fuc-TIII". The ... "Molecular behavior of mutant Lewis enzymes in vivo". Glycobiology. 9 (4): 373-82. doi:10.1093/glycob/9.4.373. PMID 10089211. ... Holmes EH, Yen TY, Thomas S, Joshi R, Nguyen A, Long T, Gallet F, Maftah A, Julien R, Macher BA (Aug 2000). "Human alpha 1,3/4 ... Galactoside 3(4)-L-fucosyltransferase is an enzyme that in humans is encoded by the FUT3 gene. The Lewis histo-blood group ...
Goh AM, Coffill CR, Lane DP (January 2011). "The role of mutant p53 in human cancer". The Journal of Pathology. John Wiley & ... The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature, ... For example, the human eye uses four genes to make structures that sense light: three for cone cell or color vision and one for ... The human gene PRNP codes for the major prion protein, PrP, and is subject to mutations that can give rise to disease-causing ...
Goh AM; Coffill CR; Lane DP (January 2011). "The role of mutant p53 in human cancer". J. Pathol. 223 (2): 116-26. doi:10.1002/ ... A dominant-negative mutation may arise in a human somatic cell and provide a proliferative advantage to the mutant cell, ... Blood types in humans is determined by a gene that creates an A, B, AB or O blood type and is located in the long arm of ... For example, in humans the Hb gene locus is responsible for the Beta-chain protein (HBB) that is one of the two globin proteins ...
"Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy". American Journal of Human Genetics. 79 (6): 1081- ... The desmocollin family members are arranged as closely linked genes on human chromosome 18q12.1. Human DSC2 consists of greater ... Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions ... Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (Jul 1991). "Chromosomal assignment of the human genes coding for the ...
In humans, it is regenerated fully in about 30 minutes; after which rods are more sensitive. Rhodopsin was discovered by Franz ... Saliba RS, Munro PM, Luthert PJ, Cheetham ME (July 2002). "The cellular fate of mutant rhodopsin: quality control, degradation ... Humans have eight different other opsins besides rhodopsin, as well as cryptochrome (light-sensitive, but not an opsin). The ... Robinson PR, Cohen GB, Zhukovsky EA, Oprian DD (October 1992). "Constitutively active mutants of rhodopsin". Neuron. 9 (4): 719 ...
"Characterization of Human Cardiac Calsequestrin and its Deleterious Mutants". Journal of Molecular Biology. 373 (4): 1047-1057 ... This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. *v ...
2003). Mutants: On Genetic Variety and the Human Body. New York: Viking. ISBN 0-670-03110-0.. ... They have been genetically modified to secrete various human hormones, express promoter sequences from other fish, and to make ... a mutant strain that lacks scales, and one with extra-long fins. Haploid embryonic stem cell lines have been established.[15] ...
... hates humans and thinks that mutants are better, thus throwing away his human name and taking his mutant one. He loses control ... He sees the humans and mutants as equals. Most of the mutants at the school see the way he does. He is good friends with ... He sees mutants as the superior race and believes that all mutants should go by their mutant name and abandon their mortal ones ... He has the same philosophy as the other members of the club about humans and mutants. Quicksilver Another member of the ...
Rijksen, G; Staal, G E. (August 1978). "Human erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with ... National Institutes of Health of the U.S. Department of Health and Human Services. January 2009. Retrieved 4 March 2011. ... There are many conditions of or affecting the human hematologic system - the biological system that includes plasma, platelets ... U.S. Department of Health and Human Services, National Institutes of Health. March 28, 2010. Retrieved 28 March 2011. " ...
Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940-52. PMID 17139325. doi:10.1038/ ... Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. Coutinho et al ... Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575-85. PMID 12154369. doi: ... Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ...
Evolutionary mutant models for human disease.. Albertson RC1, Cresko W, Detrich HW 3rd, Postlethwait JH. ... These evolutionary mutants model both normal and clinical variation in human craniofacial architecture. Cichlid illustrations ... Evolutionary mutants can also model complex human diseases including osteopenia in icefish. Note that the base of the icefish ... the analysis of evolutionary mutant models in which adaptive phenotypes mimic maladaptive human diseases. If the type and mode ...
... a group of men with the blood disease hemophilia and speculated that there would be about 150 new mutations in each human being ... Yeah, the "all humans are mutants" angle doesnt have much to it. Of course were mutants insofar as were the product of ... All Humans Are Mutants, Say Scientists 309 Posted by timothy on Wednesday September 02, 2009 @02:40PM. from the must-scramble- ... Rather than making me think that all humans are mutants, this made me think: Wow, over a runtime of 204 years, the DNA copying ...
However, the stability (Delta G) of the Ala to Ser and Val to Thr mutant human lysozymes was comparable to that of the wild- ... The structural analysis showed that all polar side chains introduced in the mutant proteins were able to find their hydrogen ... If a polar group had a heavy energy cost to be buried, a mutant protein would be remarkably destabilized. ... 1999) Biochemistry 38, 12698--12708] revealed that the mutant proteins decreased the hydrophobic effect contributing to the ...
We each possess 60 new mutations, any of which could make major changes in our appearance or behavior. The genetic mistakes are the driving force of evolution.
Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science & Nutritional Engineering, ...
A) Different col1a1a+/−;col1a1b+/− mutant siblings were analyzed using µCT scanning at 5 mo of age (mutant 1 to mutant 5). Upon ... 7) (34). The col1a1achi/+ mutant, reported earlier (21, 35), carries the same mutation that was identified in a human patient ... We studied a zebrafish mutant with a splice mutation in col1a2, resulting in the absence of α2(I) (Fig. 3B). In humans, ... Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. Charlotte Gistelinck, Ronald Y. Kwon, ...
The hypothesis supposes the emergence and fixation of a single mutant (capable of the syntactic operation Merge) during a ... Our results cast doubt on any suggestion that evolutionary reasoning provides an independent rationale for a single-mutant ... hypotheses in cognitive science is the Chomskyan evolutionary conjecture that language arose instantaneously in humans through ... Evolutionary Dynamics Do Not Motivate a Single-Mutant Theory of Human Language. *Bart de Boer. 1. , ...
Enhanced expression of p53 in human cells infected with mutant adenoviruses.. Grand RJ1, Grant ML, Gallimore PH. ... The expression of p53 in human cells infected with wild-type (wt) and mutant adenoviruses has been examined. With wt Ad5 and ... However, when cells were infected with mutant viruses which did not express the larger E1B proteins (Ad12 dl620 and in602 and ... It is suggested that the high concentrations of p53 could explain the inability of 54K and 58K negative mutants to transform ...
Hinds, P.W., Finlay, C.A., Quartin, R.S., Baker, S.J., Fearon, E.R., Vogelstein, B. and Levine, A.J. Mutant p53 DNAs from human ... Quartin R.S., Levine A.J. (1993) A Comparison of the Properties of Human P53 Mutant Alleles. In: Yang S.S., Warner H.R. (eds) ... Bartek, J., Iggo, R., Gannon, J., and Lane, D. Genetic and immunological analysis of mutant p53 in human breast cancer cell ... Werness, B.A., Levine, A.J. and Howley, P.M. The E6 proteins encoded by human papillomavirus types 16 and 18 can complex p53 in ...
Somatic mutant clones colonize the human esophagus with age. By Iñigo Martincorena, Joanna C. Fowler, Agnieszka Wabik, Andrew R ... Somatic mutant clones colonize the human esophagus with age. By Iñigo Martincorena, Joanna C. Fowler, Agnieszka Wabik, Andrew R ... Somatic mutant clones colonize the human esophagus with age Message Subject. (Your Name) has forwarded a page to you from ... Some mutant cells expand into clones that can be detected by genome sequencing. We mapped mutant clones in normal esophageal ...
MSSKTLCSME EAINERIQEV AGSLIFRAIS SIGLECQSVT SRGDLATCPR GFAVTGCTCG SACGSWDVRA ETTCHCQCAG MDWTGARCCR VQP Mutant-Resistin has had ... Resistin circulates in human blood as a dimeric protein consisting of two 92 amino acid polypeptides, which are disulfide- ... In contrast, the human adipogenic differentiation is likely to be associated with a down regulation of resistin gene expression ... Mutant-Resistin has had a Cysteine residue mutated to prevent dimerization and possibly acts as an antagonist. ...
However, the regulation of mutant p53 remained largely unexplored. This snapshot will focus on recent discovery of mutant p53 ... Some of the mutant p53 proteins gain oncogenic functions (GOF) through which it actively contribute to the aberrant cell ... Gain of function mutant p53 proteins can transcriptionally regulate the expression of a large plethora of target genes. This ... Mutant p53 protein can also transcriptionally regulate the expression of microRNAs, small non-coding RNAs that regulate gene ...
Coexistence of KRAS mutation with mutant but not wild-type EGFR predicts response to tyrosine-kinase inhibitors in human lung ... The Presence of Concomitant Mutations Affects the Activity of EGFR Tyrosine Kinase Inhibitors in EGFR-Mutant Non-Small Cell ... 1 response in 20 KRAS mutant patients who also harboured EGFR amplification but not EGFR mutation (Gumerlock et al, 2005); and ...
EGFR Mutant (L747_T751del), Myc-DDK-tagged ORF clone of Homo sapiens epidermal growth factor receptor (EGFR), transcript ... EGFR Mutant (L747_T751del), Myc-DDK-tagged ORF clone of Homo sapiens epidermal growth factor receptor (EGFR), transcript ... EGFR Mutant (L747_T751del), Myc-DDK-tagged ORF clone of Homo sapiens epidermal growth factor receptor (EGFR), transcript ... EGFR (Myc-DDK-tagged)-Human epidermal growth factor receptor (EGFR), transcript variant 1 ...
EGFR Mutant (L858R), Myc-DDK-tagged ORF clone of Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1 as ... EGFR (NM_005228) Human Mutant ORF Clone. CAT#: RC400290. EGFR Mutant (L858R), Myc-DDK-tagged ORF clone of Homo sapiens ... EGFR Mutant (L858R), Myc-DDK-tagged ORF clone of Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1 as ...
When expressed in hxk2 yeast mutants, GlkB complemented both the glucose induction and the glucose rep … ... Human pancreatic glucokinase (GlkB, hexokinase IV) has been expressed in Saccharomyces cerevisiae. The recombinant protein ... Human pancreatic glucokinase (GlkB) complements the glucose signalling defect of Saccharomyces cerevisiae hxk2 mutants Yeast. ... Human pancreatic glucokinase (GlkB, hexokinase IV) has been expressed in Saccharomyces cerevisiae. The recombinant protein ...
Five new mutants have been isolated, and all are recessive, as are the two mutants we described previously. The seven mutants ... High-frequency mutagenesis of human cells and characterization of a mutant unresponsive to both alpha and gamma interferons. R ... High-frequency mutagenesis of human cells and characterization of a mutant unresponsive to both alpha and gamma interferons ... High-frequency mutagenesis of human cells and characterization of a mutant unresponsive to both alpha and gamma interferons ...
962 human cyclin D1 promoter CREB site mutant pGL3Basic from Dr. Frank McCormicks lab contains the insert CCND1 Promoter and ... 962 human cyclin D1 promoter CREB site mutant pGL3Basic (Plasmid #32732) Print ... Map Image for -962 human cyclin D1 promoter CREB site mutant pGL3Basic ... 962 human cyclin D1 promoter CREB site mutant pGL3Basic was a gift from Frank McCormick (Addgene plasmid # 32732 ; http://n2t. ...
... hypomorphic mutants is markedly decreased. (C) Newborn Fgf8H/- mutant and Fgf8H/+ control. The mutant is smaller, cyanotic and ... An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome Message Subject (Your Name) has sent you a message from ... An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Deborah U. Frank, Lori K. Fotheringham, Judson A. Brewer, Louis ... An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Deborah U. Frank, Lori K. Fotheringham, Judson A. Brewer, Louis ...
Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells. Yuan He,1 Kar Wah Leung,2 Ye-Hong ... Procurement of the human tissue was performed according to the tenets of the Declaration of Helsinki. Normal human eyes were ... we were the first to report that Pro370Leu mutant myocilin enhances ER stress response in human TM cells [45], but how ... we compared ROS levels in the normal human TM cells and those cells after WT myocilin or Pro370Leu mutant myocilin transfection ...
Your body may in fact be a shrine to colonies of mutant clones. ... Your body may in fact be a shrine to colonies of mutant clones ... "We discovered that by the time an individual reaches middle age, they probably have more mutant than normal cells," says ... Jones and his team used genome sequencing techniques to map groups of mutant cells in donated oesophageal tissue from nine ... the findings suggest these mutant cells pile up rapidly as we get older. ...
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.. R A Fleischman ... Human piebald trait is an autosomal dominant defect in melanocyte development characterized by patches of hypopigmented skin ... To confirm the hypothesis that piebaldism results from mutations in the human gene, c-kit exons were amplified by polymerase ... In accord with this "dominant negative" effect, the identical mutation in this human kindred is associated with unusually ...
CHANGE OF PLANS RE MUTANT AND THE FMA. After much discussion and debate, it became clear to both the Mutant brain trust in VDO ... For all of you who thought Mutant Sounds was a thing of the past, take heed! Mutant has reconfigured itself and will now be ... For all of you who thought Mutant Sounds was a thing of the past, take heed! Mutant has reconfigured itself and will now be ... MUTANT SOUNDS IS REBORN AS DUBLABS MUTANT SOUNDS RADIO WITH VAS DEFERENS ORGANIZATION ...
ATM Mediates Cytotoxicity of a Mutant Telomerase RNA in Human Cancer Cells. Bradley A. Stohr and Elizabeth H. Blackburn ... A low threshold level of expression of mutant-template telomerase RNA inhibits human tumor cell proliferation. Proc Natl Acad ... Overexpression of a particular mutant human TER with a mutated template sequence (MT-hTer-47A) in telomerase-positive cancer ... Guiducci C, Cerone MA, Bacchetti S. Expression of mutant telomerase in immortal telomerase-negative human cells results in cell ...
  • One of the most controversial hypotheses in cognitive science is the Chomskyan evolutionary conjecture that language arose instantaneously in humans through a single mutation. (nature.com)
  • In accord with this "dominant negative" effect, the identical mutation in this human kindred is associated with unusually extensive depigmentation. (jci.org)
  • Thus, the finding of a piebald subject with a mutation that impairs receptor activity strongly implicates the c-kit gene in the molecular pathogenesis of this human developmental defect. (jci.org)
  • The Ala43Thr mutant retains activity, but this mutation decreases the thermal stability of both ketohexokinase-A and ketohexokinase-C. At physiologic temperature, this results in significant loss of ketohexokinase-C activity but not of ketohexokinase-A. Affected individuals who carry both mutations therefore probably have a selective deficiency of hepatic ketohexokinase, with peripheral ketohexokinase-A being preserved. (diabetesjournals.org)
  • This newly discovered mutation seems responsible for the development of smaller jaw muscles in humans as compared to non-human primates. (pennmedicine.org)
  • These converging lines of evidence suggest the question: Did this genetic mutation lift an evolutionary constraint on brain growth in early humans? (pennmedicine.org)
  • In a classic case of scientific sleuthing, Hansell Stedman, M.D. , Associate Professor of Surgery, Nancy Minugh-Purvis, Ph.D. , Director of Advanced Gross Anatomy, Department of Cell and Developmental Biology, and colleagues took their discovery of a mutation that prevents the expression of a variety of myosin -- designated MYH16 on chromosome 7 -- to its ultimate context: what makes humans different from other primates. (pennmedicine.org)
  • To determine whether the mutation was a rare form of an active gene and not a mistake introduced by the technical nature of the investigation, the team tested DNA samples from geographically disparate human populations. (pennmedicine.org)
  • They found the gene-inactivating mutation in all modern humans sampled-natives of Africa, South America, Western Europe, Iceland, Japan, and Russia. (pennmedicine.org)
  • However, the mutation was not present in the DNA of seven species of non-human primates, including chimpanzees. (pennmedicine.org)
  • Additional studies showed that versions of this gene in non-human primates bear the imprint of a critically important function for the animal, which implies that the mutation afflicts all humans, in one sense of the word, with the same inherited muscle "disease. (pennmedicine.org)
  • Using in vitro gene amplification by the polymerase chain reaction (PCR) and mutation detection by the RNAase A mismatch cleavage method, we have examined, c-K-ras genes in human pancreatic carcinomas. (csic.es)
  • The R1014X mutation led to a reduced level of mutant mRNA compared with that of the wild-type allele. (ahajournals.org)
  • Detecting gating pore currents is more challenging in Na V and Ca V channels because each mutant channel has only a single gating pore conductance, unlike the fourfold R/X mutation for homotetrameric Shaker K + channels. (rupress.org)
  • The gene mutation corresponds to that in the human skeletal dysplasia Acromesomelic Dysplasia Maroteaux type (AMDM). (biomedcentral.com)
  • Based on these corresponding mouse/human findings, assessment of the cn/cn mouse has been undertaken for a clearer understanding of how the gene mutation leads to structural physeal abnormality and growth deformity. (biomedcentral.com)
  • Although induced mutations in traditional laboratory animals have been valuable as models for human diseases, they have some important limitations. (nih.gov)
  • If the type and mode of action of mutations favored by natural selection in wild populations are similar to those that contribute to human diseases, then studies in evolutionary mutant models have the potential to identify novel genetic factors and gene-by-environment interactions that affect human health and underlie human disease. (nih.gov)
  • In 1935, JBS Haldane, one of the founders of modern genetics, studied a group of men with the blood disease hemophilia and speculated that there would be about 150 new mutations in each human being. (slashdot.org)
  • TP53 gene mutations are present in more than half of all human cancers. (frontiersin.org)
  • To confirm the hypothesis that piebaldism results from mutations in the human gene, c-kit exons were amplified by polymerase chain reaction from the DNA of 10 affected subjects and screened for nucleotide changes by single-stranded conformation polymorphism analysis. (jci.org)
  • Mutations in human glucokinase are implicated in the development of diabetes and hypoglycemia. (diabetesjournals.org)
  • Background- Long-QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene ( hERG ). (ahajournals.org)
  • The decrease in mutant mRNA also was observed in the LQT2 nonsense mutations W1001X and R1014X using hERG minigenes expressed in HEK293 cells or neonatal rat ventricular myocytes. (ahajournals.org)
  • Our findings suggest that the degradation of hERG mutant mRNA by nonsense-mediated mRNA decay is an important mechanism in LQT2 patients with nonsense or frameshift mutations. (ahajournals.org)
  • 1 The inherited long-QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene ( hERG ), which encodes the pore-forming subunit of the rapidly activating delayed rectifier K + channel ( I Kr ) in the heart. (ahajournals.org)
  • Crystal structure analysis of a complex consisting of FGF-2 and mutant FGFR2 showed that both mutations increase the binding affinity between FGF-2 and FGFR2, resulting in sustained activation of the signaling pathway and symptoms associated with the disorder ( 27, 28 ). (aacrjournals.org)
  • L. A. Wrischnik, R. G. Higuchi, M. Stone King, H. A. Erlich, N. Arnheim and A. C. Wilson, Length mutations in human mito-chondrial DNA: Direct sequencing of enzymatically amplified DNA, Nucl. (springer.com)
  • The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene. (diva-portal.org)
  • These experiments show the utility of a combined genetic, biochemical and cell-biological approach to the quantification of functional and structural changes of human GK that result from MODY-2 and GK-HI mutations. (biochemj.org)
  • Structural and biophysical studies of wild-type and mutant TREM-2 ectodomains are required to understand the functional consequences of these mutations. (eurekamag.com)
  • the out m233mutant, and to determine whether mutations in the out gene cause microphthalmia in humans. (tufts.edu)
  • Importantly, this high expression level is sufficient to ascertain whether HypoPP mutant channels are leaky because of missense mutations at arginine residues in S4 segments of the voltage sensor domains. (rupress.org)
  • The cn/cn mouse was originally named as an achondroplastic mouse but once human achondroplasia was found to be due to mutations in the gene encoding fibroblast growth factor receptor 3 [ 11 , 12 ] the cn/cn mouse was no longer considered analogous to human achondroplasia and came to be described simply as cn/cn. (biomedcentral.com)
  • Human PAI-1 stable mutant N-terminal poly-histidine is a patent-pending mutant of human PAI-1 containing four mutations that stabilize the activity of PAI-1 has been made available. (innov-research.com)
  • As analyzed by two-dimensional polyacrylamide gel electrophoresis, both mutant and wild-type HIV-1 contain four major-abundance tRNA species, which include tRNA(1,2Lys), tRNA(3Lys) (the putative primer for HIV-1 reverse transcriptase) and tRNA(Ile). (asm.org)
  • In the primary tumor, this deletion mutant receptor was shown to be amplified and overexpressed. (nih.gov)
  • The purpose of this study was to determine the expression, activity, localization, and transformation properties of this deletion mutant. (nih.gov)
  • Localization by staining and cell surface biotinylation studies revealed expression of the deletion mutant predominantly in the cytoplasm, with very little present on the cell surface. (nih.gov)
  • These data demonstrate that PDGFR-alpha(delta8,9) is transforming, and it is the first demonstration of a naturally occurring tumor-derived mutant PDGFR-alpha with oncogenic properties. (nih.gov)
  • PorA can induce bactericidal antibodies in humans and mice when they are immunized with meningococcal outer membrane vesicle (OMV) vaccines ( 4 - 8 ), and monoclonal antibodies (MAbs) against PorA can be protective in an infant rat model ( 9 ). (asm.org)
  • We did not detect any signs of apoptosis in motor neurons, showing that mutant HSPB8 resulted in neurite degeneration without inducing neuronal death. (oup.com)
  • Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science & Nutritional Engineering, Beijing Key Laboratory of Functional Food from Plant Resources, China Agricultural University, Beijing, 100083, China. (rcsb.org)
  • Human piebald trait is an autosomal dominant defect in melanocyte development characterized by patches of hypopigmented skin and hair. (jci.org)
  • Further, the locomotion defect was rescued by the expression of human torsinA or feeding with dopamine. (harvard.edu)
  • The loss-of-function is clearly a folding defect, since the mutant shows 64% of CO 2 hydration activity compared to that of the wild-type at low temperature where the mutant is folded. (diva-portal.org)
  • Stx11(-/-) murine lymphocytes exhibited a degranulation defect that could be rescued by expression of human syntaxin-11 but not expression of a C-terminal-truncated mutant. (uzh.ch)
  • The efficacy of ALK inhibitors in patients with -mutant neuroblastoma is limited, highlighting the need to improve their effectiveness in these patients. (pubfacts.com)
  • Kinetic analysis of wild-type human GK showed that the glucose S 0.5 and Hill coefficient were similar to previously published data in v itro ( S 0.5 is the glucose level at the half-maximal rate). (biochemj.org)
  • V203A demonstrated decreased catalytic activity and an 8-fold increase in glucose S 0.5 when compared with wild-type human islet GK. (biochemj.org)
  • The effects of the different GK mutants on glucose-stimulated insulin release support the kinetic and expression data. (biochemj.org)
  • Glucose uptake assay showed that the level of glucose uptake was increased in P53 mutant MCF10A cell lines (R175H or R273H, and R248W) with a 1.5-1.8 fold change compared with wild-type MCF10A. (aacrjournals.org)
  • The increase of glucose uptake by mutant-P53 was reproducible with the experiments with 2NBGD. (aacrjournals.org)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • Our findings establish a reproducible, versatile three-dimensional framework for human epithelial disease modelling and regenerative medicine applications. (harvard.edu)
  • Our findings indicate that dermcidin has an exceptional value for the human innate host defense and lend support to the idea that it evolved to evade bacterial resistance mechanisms targeted at the cationic character of most AMPs. (asm.org)
  • These findings unveil a novel mechanism by which mutant FUS might intersect other pathogenic pathways in ALS patients' motoneurons. (inserm.fr)
  • There was a weak positive correlation between mutant K-ras activity and peroxide levels. (aacrjournals.org)
  • While both wild-type hSts-2 isoforms have lower phosphatase activity toward the artificial substrate OMFP than mouse Sts-2 in vitro, no obvious differences in the phosphatase activity of the different mutants was evident. (suny.edu)
  • Moreover, they suggest that the antimicrobial activity of dermcidin is dependent on the interaction with the bacterial membrane and might thus assist with the determination of the yet unknown mode of action of this important human AMP. (asm.org)
  • The greater activity of the truncated IgG3 hinge mutants indicates that the long hinge of IgG3 seems to downregulate through an unknown mechanism the inherent increased complement-activating capability of IgG3 Fc when the antibody binds to a sparse antigen. (asm.org)
  • Key results: Constitutive activity decreased from the hH4R via the hH4R-F169V mutant to the hH4R-F169V+S179A and hH4R-F169V+S179M double mutants. (uni-regensburg.de)
  • To this end, we sought to develop a combination strategy to enhance the antitumor activity of ALK inhibitor monotherapy in human neuroblastoma cell lines and xenograft models expressing activated ALK. (pubfacts.com)
  • Evolutionary mutant models have the potential to reveal novel insight into the genetic basis of an array of different types of human diseases, from simple to complex. (nih.gov)
  • These authors argue that evolutionary considerations represent an independent motivation for the single-mutant theory, because the narrow historical time-window in which the human language faculty is said to have emerged rules out the emergence and fixation of more than one language-relevant genetic anomaly. (nature.com)
  • Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. (harvard.edu)
  • The hypothesis supposes the emergence and fixation of a single mutant (capable of the syntactic operation Merge ) during a narrow historical window as a result of frequency-independent selection under a huge fitness advantage in a population of an effective size no larger than ~15 000 individuals. (nature.com)
  • This controversial hypothesis leads to the conclusion that our modern language capacity emerged instantaneously in a single hominin individual who is an ancestor of all (modern) humans. (nature.com)
  • We pursued this hypothesis in 12 lung adenocarcinoma cell lines expressing mutant K-ras and 8 lines with only wildtype K-ras. (aacrjournals.org)
  • Also, only a subset of the mutants was detected by the autophagy marker, ubiquitin, supporting our hypothesis that different capsule and O-antigen mutants have diverse fates in MDMs. (uiowa.edu)
  • This supports our hypothesis that capsule and O-antigen mutants are more susceptible to recognition by autophagy. (uiowa.edu)
  • Degradation of premature termination codon-containing mRNA transcripts by nonsense-mediated mRNA decay is increasingly recognized as a mechanism for reducing mRNA levels in a variety of human diseases. (ahajournals.org)
  • The mRNA expressional level of LDHA was also upregulated by mutant P53. (aacrjournals.org)
  • We have now replaced the 45 C-terminal amino acids of the human UGT1A9, including its trans -membrane helix, with a fusion peptide ending with six His residues. (aspetjournals.org)
  • The mutant strain had an altered membrane phospholipid pattern and showed decreased binding of dermcidin to the bacterial surface, indicating that dermcidin interacts with membrane phospholipids. (asm.org)
  • In this study, we show that coexpression of Stac3 dramatically increases the expression of human Ca V 1.1 (plus α 2 -δ 1b and β 1a subunits) at the plasma membrane of Xenopus laevis oocytes. (rupress.org)
  • Previous study showed that gain-of-function (GOF) by mutant P53 drives the Warburg effect via GLUT1 membrane translocation in malignancies. (aacrjournals.org)
  • The confocal imaging studies captured translocation to membrane of GLUT1 in mutant P53-MCF10A. (aacrjournals.org)