Adenomatous Polyposis Coli: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.Adenomatous Polyposis Coli Protein: A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.Genes, APC: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.beta Catenin: A multi-functional catenin that participates in CELL ADHESION and nuclear signaling. Beta catenin binds CADHERINS and helps link their cytoplasmic tails to the ACTIN in the CYTOSKELETON via ALPHA CATENIN. It also serves as a transcriptional co-activator and downstream component of WNT PROTEIN-mediated SIGNAL TRANSDUCTION PATHWAYS.Intestinal Polyps: Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Axin Protein: A scaffolding protein that is a critical component of the axin signaling complex which binds to ADENOMATOUS POLYPOSIS COLI PROTEIN; GLYCOGEN SYNTHASE KINASE 3; and CASEIN KINASE I.Adenomatous Polyps: Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)Intestinal Polyposis: The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).Fibromatosis, Aggressive: A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)Adenoma: A benign epithelial tumor with a glandular organization.Intestinal Neoplasms: Tumors or cancer of the INTESTINES.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Gardner Syndrome: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.Colonic Neoplasms: Tumors or cancer of the COLON.Polyps: Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.Wnt Proteins: Wnt proteins are a large family of secreted glycoproteins that play essential roles in EMBRYONIC AND FETAL DEVELOPMENT, and tissue maintenance. They bind to FRIZZLED RECEPTORS and act as PARACRINE PROTEIN FACTORS to initiate a variety of SIGNAL TRANSDUCTION PATHWAYS. The canonical Wnt signaling pathway stabilizes the transcriptional coactivator BETA CATENIN.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.Fibromatosis, Abdominal: A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Duodenal Neoplasms: Tumors or cancer of the DUODENUM.Colonic Polyps: Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base.TCF Transcription Factors: A family of DNA-binding proteins that are primarily expressed in T-LYMPHOCYTES. They interact with BETA CATENIN and serve as transcriptional activators and repressors in a variety of developmental processes.Sulindac: A sulfinylindene derivative prodrug whose sulfinyl moiety is converted in vivo to an active NSAID analgesic. Specifically, the prodrug is converted by liver enzymes to a sulfide which is excreted in the bile and then reabsorbed from the intestine. This helps to maintain constant blood levels with reduced gastrointestinal side effects.Proctocolectomy, Restorative: A surgical procedure involving the excision of the COLON and RECTUM and the formation of an ILEOANAL RESERVOIR (pouch). In patients with intestinal diseases, such as ulcerative colitis, this procedure avoids the need for an OSTOMY by allowing for transanal defecation.Armadillo Domain Proteins: A family of proteins that contain several 42-amino acid repeat domains and are homologous to the Drosophila armadillo protein. They bind to other proteins through their armadillo domains and play a variety of roles in the CELL including SIGNAL TRANSDUCTION, regulation of DESMOSOME assembly, and CELL ADHESION.Glycogen Synthase Kinase 3: A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.Transcription Factor 7-Like 2 Protein: A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.Axin Signaling Complex: A specific complex of WNT SIGNALING PATHWAY proteins that mediates the phosphorylation-dependent destruction of cytosolic BETA-CATENIN. The complex is disrupted by cell surface binding of WNT PROTEINS, which allows beta-catenin levels to rise to the point where they migrate to the CELL NUCLEUS and activate transcription.Lymphoid Enhancer-Binding Factor 1: A T-cell factor that plays an essential role in EMBRYONIC DEVELOPMENT.Colonic Pouches: Sacs or reservoirs created to function in place of the COLON and/or RECTUM in patients who have undergone restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).Glycogen Synthase Kinases: A class of protein-serine-threonine kinases that was originally found as one of the three types of kinases that phosphorylate GLYCOGEN SYNTHASE. Glycogen synthase kinases along with CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASES and CYCLIC AMP-DEPENDENT PROTEIN KINASES regulate glycogen synthase activity.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Wnt Signaling Pathway: A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, which when mutated results in the wingless phenotype, and the vertebrate INT gene, which is located near integration sites of MOUSE MAMMARY TUMOR VIRUS. The signaling pathway is initiated by the binding of WNT PROTEINS to cells surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN.Colon: The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome: The largest subunit of the anaphase-promoting complex. It acts primarily as a scaffold for the proper organization and arrangement of subunits. The C-terminal region of Apc1 contains a series of tandem amino acid repeats that are also seen in the 26S proteasome regulatory particle, and may assist with forming and stabilizing protein-protein interactions.Intestinal Mucosa: Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Cadherins: Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.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.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Colectomy: Excision of a portion of the colon or of the whole colon. (Dorland, 28th ed)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.Osteoma: A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Polymerase 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Zebrafish Proteins: Proteins obtained from the ZEBRAFISH. Many of the proteins in this species have been the subject of studies involving basic embryological development (EMBRYOLOGY).Adenocarcinoma: A malignant epithelial tumor with a glandular organization.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.Genes, MCC: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).Duodenoscopy: Endoscopic examination, therapy or surgery of the luminal surface of the duodenum.Escherichia coli Infections: Infections with bacteria of the species ESCHERICHIA COLI.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Rectum: The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL.DNA, Neoplasm: DNA present in neoplastic tissue.Microtubule-Associated Proteins: High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules.Wnt1 Protein: A proto-oncogene protein and member of the Wnt family of proteins. It is expressed in the caudal MIDBRAIN and is essential for proper development of the entire mid-/hindbrain region.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.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)Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.Mice, Inbred C57BLAmino 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.Intestines: The section of the alimentary canal from the STOMACH to the ANAL CANAL. It includes the LARGE INTESTINE and SMALL INTESTINE.HCT116 Cells: Human COLORECTAL CARCINOMA cell line.Adaptor Proteins, Signal Transducing: A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymesTranscription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Precancerous Conditions: Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)Cell Surface Extensions: Specialized structures of the cell that extend the cell membrane and project out from the cell surface.Anti-Inflammatory Agents, Non-Steroidal: Anti-inflammatory agents that are non-steroidal in nature. In addition to anti-inflammatory actions, they have analgesic, antipyretic, and platelet-inhibitory actions.They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. Inhibition of prostaglandin synthesis accounts for their analgesic, antipyretic, and platelet-inhibitory actions; other mechanisms may contribute to their anti-inflammatory effects.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.alpha Catenin: A catenin that binds F-ACTIN and links the CYTOSKELETON with BETA CATENIN and GAMMA CATENIN.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.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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Pouchitis: Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).Cell Line, Tumor: A cell line derived from cultured tumor cells.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Colonoscopy: Endoscopic examination, therapy or surgery of the luminal surface of the colon.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.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Carcinoma: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)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.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Xenopus Proteins: Proteins obtained from various species of Xenopus. Included here are proteins from the African clawed frog (XENOPUS LAEVIS). Many of these proteins have been the subject of scientific investigations in the area of MORPHOGENESIS and development.Cyclooxygenase 2: An inducibly-expressed subtype of prostaglandin-endoperoxide synthase. It plays an important role in many cellular processes and INFLAMMATION. It is the target of COX2 INHIBITORS.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.Neoplasms, Multiple Primary: Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Fibroma: A benign tumor of fibrous or fully developed connective tissue.HT29 Cells: Human colonic ADENOCARCINOMA cells that are able to express differentiation features characteristic of mature intestinal cells such as the GOBLET CELLS.Anticarcinogenic Agents: Agents that reduce the frequency or rate of spontaneous or induced tumors independently of the mechanism involved.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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)Anastomosis, Surgical: Surgical union or shunt between ducts, tubes or vessels. It may be end-to-end, end-to-side, side-to-end, or side-to-side.Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Down-Regulation: A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.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.Genes, ras: Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.Wnt3A Protein: A Wnt protein subtype that plays a role in cell-cell signaling during EMBRYONIC DEVELOPMENT and the morphogenesis of the developing NEURAL TUBE.Tumor Suppressor Proteins: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.Gastrointestinal Neoplasms: Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Epidermal Cyst: Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules.Hyperplasia: An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Desmoplakins: Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.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.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.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.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.Rectal Neoplasms: Tumors or cancer of the RECTUM.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Escherichia coli O157: A verocytotoxin-producing serogroup belonging to the O subfamily of Escherichia coli which has been shown to cause severe food-borne disease. A strain from this serogroup, serotype H7, which produces SHIGA TOXINS, has been linked to human disease outbreaks resulting from contamination of foods by E. coli O157 from bovine origin.Peutz-Jeghers Syndrome: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.gamma Catenin: A multi-functional catenin that is highly homologous to BETA CATENIN. Gamma catenin binds CADHERINS and helps link their cytoplasmic tails to ACTIN in the CYTOSKELETON via ALPHA CATENIN. It is also found in DESMOSOMES where it mediates the link between DESMOSOMAL CADHERINS and DESMOPLAKIN.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.Chromosome Deletion: Actual loss of portion of a chromosome.Intestine, Small: The portion of the GASTROINTESTINAL TRACT between the PYLORUS of the STOMACH and the ILEOCECAL VALVE of the LARGE INTESTINE. It is divisible into three portions: the DUODENUM, the JEJUNUM, and the ILEUM.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.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.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.Calcium-Calmodulin-Dependent Protein Kinases: A CALMODULIN-dependent enzyme that catalyzes the phosphorylation of proteins. This enzyme is also sometimes dependent on CALCIUM. A wide range of proteins can act as acceptor, including VIMENTIN; SYNAPSINS; GLYCOGEN SYNTHASE; MYOSIN LIGHT CHAINS; and the MICROTUBULE-ASSOCIATED PROTEINS. (From Enzyme Nomenclature, 1992, p277)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.DNA Glycosylases: A family of DNA repair enzymes that recognize damaged nucleotide bases and remove them by hydrolyzing the N-glycosidic bond that attaches them to the sugar backbone of the DNA molecule. The process called BASE EXCISION REPAIR can be completed by a DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE which excises the remaining RIBOSE sugar from the DNA.Colitis, Ulcerative: Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Ileum: The distal and narrowest portion of the SMALL INTESTINE, between the JEJUNUM and the ILEOCECAL VALVE of the LARGE INTESTINE.Stomach Neoplasms: Tumors or cancer of the STOMACH.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.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.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.Abdominal NeoplasmsGastric Fundus: The superior portion of the body of the stomach above the level of the cardiac notch.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.Cell Movement: The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.Cecal Neoplasms: Tumors or cancer of the CECUM.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.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.Adenomatosis, Pulmonary: A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)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).)Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.Jejunal Neoplasms: Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL).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.Cell Polarity: Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.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.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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Multiprotein Complexes: Macromolecular complexes formed from the association of defined protein subunits.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Xenopus: An aquatic genus of the family, Pipidae, occurring in Africa and distinguished by having black horny claws on three inner hind toes.Ampulla of Vater: A dilation of the duodenal papilla that is the opening of the juncture of the COMMON BILE DUCT and the MAIN PANCREATIC DUCT, also known as the hepatopancreatic ampulla.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Colorectal Neoplasms, Hereditary Nonpolyposis: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.Isoenzymes: Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.
(1/796) Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor.

The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin. Complex formation induces the rapid degradation of betacatenin. In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]). Here, we report the identification and genomic structure of APC homologues. Mammalian APC2, which closely resembles APC in overall domain structure, was functionally analyzed and shown to contain two SAMP domains, both of which are required for binding to conductin. Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells. Human APC2 maps to chromosome 19p13.3. APC and APC2 may therefore have comparable functions in development and cancer.  (+info)

(2/796) Expression of CD44 in Apc and Tcf mutant mice implies regulation by the WNT pathway.

Overexpression of cell surface glycoproteins of the CD44 family is an early event in the colorectal adenoma-carcinoma sequence. This suggests a link with disruption of APC tumor suppressor protein-mediated regulation of beta-catenin/Tcf-4 signaling, which is crucial in initiating tumorigenesis. To explore this hypothesis, we analyzed CD44 expression in the intestinal mucosa of mice and humans with genetic defects in either APC or Tcf-4, leading to constitutive activation or blockade of the beta-catenin/Tcf-4 pathway, respectively. We show that CD44 expression in the non-neoplastic intestinal mucosa of Apc mutant mice is confined to the crypt epithelium but that CD44 is strongly overexpressed in adenomas as well as in invasive carcinomas. This overexpression includes the standard part of the CD44 (CD44s) as well as variant exons (CD44v). Interestingly, deregulated CD44 expression is already present in aberrant crypt foci with dysplasia (ACFs), the earliest detectable lesions of colorectal neoplasia. Like ACFs of Apc-mutant mice, ACFs of familial adenomatous polyposis (FAP) patients also overexpress CD44. In sharp contrast, Tcf-4 mutant mice show a complete absence of CD44 in the epithelium of the small intestine. This loss of CD44 concurs with loss of stem cell characteristics, shared with adenoma cells. Our results indicate that CD44 expression is part of a genetic program controlled by the beta-catenin/Tcf-4 signaling pathway and suggest a role for CD44 in the generation and turnover of epithelial cells.  (+info)

(3/796) Analysis of masked mutations in familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of patients, MAMA (monoallelic mutation analysis) was used to independently examine the status of each of the two APC alleles. Seven of nine patients analyzed were found to have significantly reduced expression from one of their two alleles whereas two patients were found to have full-length expression from both alleles. We conclude that more than 95% of patients with FAP have inactivating mutations in APC and that a combination of MAMA and standard genetic tests will identify APC abnormalities in the vast majority of such patients. That no APC expression from the mutant allele is found in some FAP patients argues strongly against the requirement for dominant negative effects of APC mutations. The results also suggest that there may be at least one additional gene, besides APC, that can give rise to FAP.  (+info)

(4/796) Administration of an unconjugated bile acid increases duodenal tumors in a murine model of familial adenomatous polyposis.

Intestinal carcinogenesis involves the successive accumulation of multiple genetic defects until cellular transformation to an invasive phenotype occurs. This process is modulated by many epigenetic factors. Unconjugated bile acids are tumor promoters whose presence in intestinal tissues is regulated by dietary factors. We studied the role of the unconjugated bile acid, chenodeoxycholate, in an animal model of familial adenomatous polyposis. Mice susceptible to intestinal tumors as a result of a germline mutation in Apc (Min/+ mice) were given a 10 week dietary treatment with 0.5% chenodeoxycholate. Following this, the mice were examined to determine tumor number, enterocyte proliferation, apoptosis and beta-catenin expression. Intestinal tissue prostaglandin E2 (PGE2) levels were also assessed. Administration of chenodeoxycholate in the diet increased duodenal tumor number in Min/+ mice. Promotion of duodenal tumor formation was accompanied by increased beta-catenin expression in duodenal cells, as well as increased PGE2 in duodenal tissue. These data suggest that unconjugated bile acids contribute to periampullary tumor formation in the setting of an Apc mutation.  (+info)

(5/796) Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.

OBJECTIVE: Using an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. SUMMARY BACKGROUND DATA: Germline mutations in the APC gene predispose to FAP. Established and proposed genotype-phenotype correlations as well as the influence of mutation site on surgical procedures have been reported. The predictive value of APC mutation analysis for disease manifestation and therapeutic decision making needs to be investigated further. METHODS: One hundred twenty-three kindreds of the local FAP registry were included in this study. CHRPE phenotype was defined as at least one large characteristic lesion or a total of four lesions in both eyes. APC mutations were identified by protein truncation test and automated DNA sequencing from patient lymphocyte DNA and RNA. RESULTS: APC germline mutations were identified in 85/123 families with FAP. They were located between codons 213 and 1581 of the APC gene and displayed distinct genotype-phenotype correlations. CHRPE status facilitated mutation analysis by discriminating regions of interest within the APC coding region. Severe manifestations of desmoids were restricted to mutations between codons 1444 through 1581. Whereas 91% (75/82) of at-risk persons were excluded as mutation carriers, APC germline mutations were detected before clinical examination in 9% (7/82) of at-risk persons. One patient agreed to endoscopy only after mutation detection. CONCLUSIONS: This study supports the feasibility of combined molecular and clinical screening of families with FAP and may provide a guideline for routine presymptomatic molecular diagnostics in a clinical laboratory.  (+info)

(6/796) Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene.

Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu I sequences have occasionally been reported to cause other genetic diseases including type I neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion.  (+info)

(7/796) Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis.

BACKGROUND: Mutations of the APC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. AIMS: To conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. METHODS: All direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model. RESULTS: The baseline analysis predicted that screening a prototype FAP family would cost $4975/ pound3109 by molecular testing and $8031/ pound5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/ pound4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives. CONCLUSIONS: In FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.  (+info)

(8/796) Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.

Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis. Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life. The severity of the disease correlates with the position of the inherited APC mutation (genotype-phenotype correlation). Together with the fact that both germ-line and sporadic APC mutations cluster in the central region of the APC gene, this points to a dominant negative effect of certain APC mutants. Loss of APC function was recently shown to result in enhanced beta-catenin-/Tcf-mediated transcription in colon epithelial cells. Here, we provide experimental evidence for a dominant negative effect of APC gene products associated with severe polyposis. Wild-type APC activity in beta-catenin-/Tcf-mediated transcription was strongly inhibited by a mutant APC that is truncated at codon 1309. In contrast, mutant APC gene products that are associated with attenuated polyposis (codon 386 or 1465) interfered only weakly with wild-type APC activity. These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region.  (+info)

*  Wnt signaling pathway
Minde DP, Radli M, Forneris F, Maurice MM, Rüdiger SG (2013). "Large extent of disorder in Adenomatous Polyposis Coli offers a ... "Large Extent of Disorder in Adenomatous Polyposis Coli Offers a Strategy to Guard Wnt Signalling against Point Mutations". PLoS ... Baldness treatments GPR177 Adenomatous polyposis coli AXIN1 Casein kinase 1 Zhang, Haiwei. "Dishevelled-DEP domain interacting ... This destruction complex includes the following proteins: Axin, adenomatosis polyposis coli (APC), protein phosphatase 2A (PP2A ...
*  Adenomatous polyposis coli
... (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ... entry on APC-Associated Polyposis Conditions OMIM entries on APC-Associated Polyposis Conditions Adenomatous Polyposis Coli ... The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and ... Rosenberg MM, Yang F, Giovanni M, Mohn JL, Temburni MK, Jacob MH (June 2008). "Adenomatous polyposis coli plays a key role, in ...
*  Catenin alpha-1
"The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ... "The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ...
*  List of OMIM disorder codes
PLAG1 Adenomatous polyposis coli; 175100; APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, ... GPR56 Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A Polyposis, juvenile intestinal; 174900; BMPR1A Polyposis, ... OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH Colorectal cancer; 114500; ... AHI1 Juvenile polyposis syndrome, infantile form; 174900; BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia ...
*  AXIN1
Many other large IDPs are affected by missense mutations, such as BRCA1, Adenomatous polyposis coli(APC), CREB-binding protein ... Ikeda S, Kishida M, Matsuura Y, Usui H, Kikuchi A (2000). "GSK-3beta-dependent phosphorylation of adenomatous polyposis coli ... Spink KE, Polakis P, Weis WI (2000). "Structural basis of the Axin-adenomatous polyposis coli interaction". EMBO J. 19 (10): ... Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
*  Timothy J. Yeatman
Regulation of caspase expression and apoptosis by adenomatous polyposis coli. Cancer Research. 2003 Aug 1;63(15):4368-74. PMID ...
*  Point mutation
For instance, point mutations in Adenomatous Polyposis Coli promote tumorigenesis. A novel assay, Fast parallel proteolysis ( ...
*  Benign tumor
Aoki K, Taketo MM (October 2007). "Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene". J. Cell Sci. ... Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. In this disorder ... Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis". Am. J. Gastroenterol. 101 (2): 385-98. doi:10.1111 ... Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly, ...
*  BUB1B
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (2001). "A role for the Adenomatous Polyposis Coli protein in ...
*  Mouse model of colorectal and intestinal cancer
1991). "Identification and characterization of the familial adenomatous polyposis coli gene". Cell. 66 (3): 589-600. doi: ... Familial Adenomatous Polyposis (FAP) is a hereditary disease that is characterized with development of numerous colon polyps. A ... 1999). "Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene". EMBO J. 18 (21): 5931-42. doi: ... 1998). "Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice". Cancer Res. 58 (6): 1087-9. PMID 9515784. Engle ...
*  BUB3
2001). "A role for the Adenomatous Polyposis Coli protein in chromosome segregation". Nat. Cell Biol. 3 (4): 429-32. doi: ... cancer adenomatous polyposis osteosarcoma familial breast cancer glioblastoma cervicitis lung cancer carcinoma Coli polyposis ...
*  CSNK2B
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. ...
*  Beta-catenin
Although one molecule of axin only contains a single β-catenin recruitment motif, its partner the Adenomatous Polyposis Coli ( ... Through its N-terminal regulator of G-protein signaling (RGS) domain, it recruits the adenomatous polyposis coli (APC) protein ... "Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin ... and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore, ...
*  Akt/PKB signaling pathway
Akt phosphorylates GSK3 beta, indirectly activating microtubule binding protein adenomatous polyposis coli (APC). Endothelial ...
*  KLF4
"Haploinsufficiency of Krüppel-like factor 4 promotes adenomatous polyposis coli dependent intestinal tumorigenesis". Cancer ...
*  DVL1
Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
*  MAPRE2
Berrueta L, Kraeft SK, Tirnauer JS, Schuyler SC, Chen LB, Hill DE, Pellman D, Bierer BE (1998). "The adenomatous polyposis coli ... The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene ... a new member of the adenomatous polyposis coli-binding EB1-like gene family, is differentially expressed in activated T cells ...
*  ARHGEF4
2006). "Adenomatous polyposis coli (APC) is required for normal development of skin and thymus". PLoS Genet. 2 (9): e146. doi: ...
*  MAPRE1
The protein encoded by this gene was first identified by its binding to the APC (Adenomatous polyposis coli) protein which is ... "The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules". Proc. Natl. Acad. ...
*  Mir-135 microRNA precursor family
July 2008). "Regulation of the adenomatous polyposis coli gene by the miR-135 family in colorectal cancer". Cancer Research. 68 ...
*  REEP5
1991). "A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene". Nucleic Acids Res. 19 (22): 6348. doi: ... a gene of the familial adenomatous polyposis (FAP) locus". Gene. 169 (2): 215-8. doi:10.1016/0378-1119(95)00827-6. PMID 8647449 ... 1991). "Identification of deletion mutations and three new genes at the familial polyposis locus". Cell. 66 (3): 601-13. doi: ... 2006). "HCCR-1-interacting molecule "deleted in polyposis 1" plays a tumor-suppressor role in colon carcinogenesis". ...
*  Familial adenomatous polyposis
The APC is a tumour suppressor gene responsible for the production of adenomatous polyposis coli (APC), a large multifunction ... Familial Adenomatous Polyposis Cancer.Net: Attenuated Familial Adenomatous Polyposis Familial Adenomatous Polyposis-eMedicine ... June 1998). "Genotype-phenotype correlations in attenuated adenomatous polyposis coli". Am. J. Hum. Genet. 62: 1290-301. doi: ... Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form ...
*  APC internal ribosome entry site (IRES)
APC is a tumour suppressor gene which is associated with the inherited disease adenomatous polyposis coli (APC). It is thought ...
*  Astral microtubules
It is also dependent on several microtubule-associated proteins such as EB1 and adenomatous polyposis coli (APC). Mitosis, ...
*  Ran (gene)
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
*  PSMD7
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
*  SIAH1
"Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein". Molecular Cell ...
adenomatous polyposis coli protein  adenomatous polyposis coli protein
Truncation mutations in the adenomatous polyposis coli protein (APC) are responsible for familial polyposis, a form of ... adenomatous polyposis coli protein. Summary. Summary: A negative regulator of beta-catenin signaling which is mutant in ... adenomatous polyposis coli*apc genes*colorectal neoplasms*trans activators*colonic neoplasms*neoplastic gene expression ... We find that RNAi-mediated depletion of two kMAPs, the adenomatous polyposis coli protein (APC) and its binding partner, EB1, ...
more infohttps://www.labome.org/topics/chemicals/and/proteins/cytoskeletal/adenomatous-polyposis-coli-protein-14404.html
Adenomatous Polyposis Coli Protein
     Summary Report | CureHunter  Adenomatous Polyposis Coli Protein Summary Report | CureHunter
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME. ... Adenomatous Polyposis Coli (Familial Adenomatous Polyposis) 01/01/2008 - "The adenomatous polyposis coli gene functions as a ... Adenomatous Polyposis Coli Protein. Subscribe to New Research on Adenomatous Polyposis Coli Protein ... 07/15/1994 - "The adenomatous polyposis coli protein (APC) is mutated in familial adenomatous polyposis patients as well as in ...
more infohttp://www.curehunter.com/public/keywordSummaryD025601-Adenomatous-Polyposis-Coli-Protein.do
Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene | SpringerLink  Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene | SpringerLink
... gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The Apc gene product (APC), basically a ... The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The ... adenomatous polyposis coli (Apc) gene β-catenin synapse tumor suppressor Wnt signaling ... Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (2001) A role for the adenomatous polyposis coli protein in ...
more infohttps://link.springer.com/article/10.1111%2Fj.1447-073x.2005.00106.x
Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin | Journal of Cell Science  Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin | Journal of Cell Science
Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin Message Subject (Your Name) has sent you a message ...
more infohttp://jcs.biologists.org/content/118/24/5699
Adenomatous Polyposis Coli Tumor Suppressor Protein Has Signaling Activity in Xenopus laevis Embryos Resulting in the Induction...  Adenomatous Polyposis Coli Tumor Suppressor Protein Has Signaling Activity in Xenopus laevis Embryos Resulting in the Induction...
The adenomatous polyposis coli (APC)1 gene is a tumor suppressor gene linked to familial adenomatous polyposis (FAP) and to the ... adenomatous polyposis coli. hAPC. human APC. XAPC. Xenopus APC cDNA. XAPC FL. full-length Xenopus APC cDNA. Dlg. Drosophila ... 1991) Identification and characterization of the Familial Adenomatous Polyposis Coli gene. Cell 66:589-600, pmid:1651174.. ... Mutations in the adenomatous polyposis coli (APC) tumor suppressor gene are linked to both familial and sporadic human colon ...
more infohttp://jcb.rupress.org/content/136/2/411
Oncogenic mutations in adenomatous polyposis coli (Apc) activate mechanistic target of rapamycin complex 1 (mTORC1)in mice and...  Oncogenic mutations in adenomatous polyposis coli (Apc) activate mechanistic target of rapamycin complex 1 (mTORC1)in mice and...
Oncogenic mutations in adenomatous polyposis coli (Apc) activate mechanistic target of rapamycin complex 1 (mTORC1)in mice and ... Truncating mutations in adenomatous polyposis coli (Apc) are strongly linked to colorectal cancers. APC is a negative regulator ... Oncogenic mutations in adenomatous polyposis coli (Apc) activate mechanistic target of rapamycin complex 1 (mTORC1)in mice and ... Oncogenic mutations in adenomatous polyposis coli (Apc) activate mechanistic target of rapamycin complex 1 (mTORC1)in mice and ...
more infohttp://dmm.biologists.org/content/early/2013/11/07/dmm.012625
Relationship between the role of the adenomatous polyposis coli protein in colon cancer and its contribution to cytoskeletal...  Relationship between the role of the adenomatous polyposis coli protein in colon cancer and its contribution to cytoskeletal...
A unique feature of colon cancer is that truncation mutations in the APC (adenomatous polyposis coli) gene are common to most ... Abbreviations: APC, adenomatous polyposis coli; Asef, APC-stimulated guanine nucleotide exchange factor; GSK3β, glycogen ... Relationship between the role of the adenomatous polyposis coli protein in colon cancer and its contribution to cytoskeletal ... Relationship between the role of the adenomatous polyposis coli protein in colon cancer and its contribution to cytoskeletal ...
more infohttp://www.biochemsoctrans.org/content/33/4/694
Targeted deletion of the C-terminus of the mouse adenomatous polyposis coli tumor suppressor results in neurologic phenotypes...  Targeted deletion of the C-terminus of the mouse adenomatous polyposis coli tumor suppressor results in neurologic phenotypes...
Loss of adenomatous polyposis coli (APC) gene function results in constitutive activation of the canonical Wnt pathway and ... Mutations of the tumor suppressor gene adenomatous polyposis coli (APC) are responsible for familial adenomatous polyposis (FAP ... Loss of adenomatous polyposis coli (APC) gene function results in constitutive activation of the canonical Wnt pathway and ... Senda T, Iizuka-Kogo A, Onouchi T, Shimomura A: Adenomatous polyposis coli (APC) plays multiple roles in the intestinal and ...
more infohttps://molecularbrain.biomedcentral.com/articles/10.1186/1756-6606-7-21
Familial adenomatous polyposis - Wikipedia  Familial adenomatous polyposis - Wikipedia
The APC is a tumour suppressor gene responsible for the production of adenomatous polyposis coli (APC), a large multifunction ... Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form ... The third variant, autosomal recessive familial adenomatous polyposis or MYH-associated polyposis, is also milder and, as its ... "Genotype-phenotype correlations in attenuated adenomatous polyposis coli". Am. J. Hum. Genet. 62 (6): 1290-1301. doi:10.1086/ ...
more infohttps://en.m.wikipedia.org/wiki/Familial_adenomatous_polyposis
Final Diagnosis -- Case 340  Final Diagnosis -- Case 340
Familial Adenomatous Polyposis (FAP), also known as adenomatous polyposis coli (APC), is an autosomal dominant (AD) disorder ... Final Diagnosis -- Familial adenomatous polyposis. FINAL DIAGNOSIS: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED TYPE.. ... A role for the Adenomatous Polyposis Coli protein in chromosome segregation Kaplan, et al. (2001), Nature Cell Biol 3:429-432 * ... Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Fodde, R and Khan, P. Crit Rev Oncog 6 (1995) 291 ...
more infohttp://path.upmc.edu/cases/case340/dx.html
Familial adenomatous polyposis  Familial adenomatous polyposis
... Common Name(s). Familial adenomatous polyposis, FAP, Adenomatous polyposis coli ... Condition Summary: APC Gene Mutation; Attenuated Familial Adenomatous Polyposis; Familial Adenomatous Polyposis ... "Familial adenomatous polyposis" (open studies are recruiting volunteers) and 51 "Familial adenomatous polyposis" studies with " ... Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome with an incidence of ...
more infohttp://diseaseinfosearch.org/FAP/2722
Tanneberger K et al. (2011), 
		
		
			Structural and functional characterization of t... -
		
		Xenbase Paper
	  Tanneberger K et al. (2011), Structural and functional characterization of t... - Xenbase Paper
Amer1/WTX binds to the tumor suppressor adenomatous polyposis coli and acts as an inhibitor of Wnt signaling by inducing β- ... adenomatous polyposis coli, and Axin/Conductin. Deletion or specific mutations of the membrane binding domain of Amer1 abolish ...
more infohttp://www.xenbase.org/literature/article.do?method=display&articleId=43661
Serrated adenoma and APC gene mutation | Journal of Medical Genetics  Serrated adenoma and APC gene mutation | Journal of Medical Genetics
All three patients with serrated adenomas had mutations in the adenomatous polyposis coli (APC) gene-two proximal to the site ... A small study suggests that serrated adenoma may be a form of familial adenomatous polyposis (FAP) and not a separate type of ... The genetic results are compatible with a recent report describing colonic polyposis of ,100 polyps as attenuated FAP, so ...
more infohttp://jmg.bmj.com/content/39/7/462
Adenomatous polyposis coli (IPR026836) | InterPro | EMBL-EBI  Adenomatous polyposis coli (IPR026836) | InterPro | EMBL-EBI
Adenomatous polyposis coli (IPR026836). Short name: APC Family relationships *Adenomatous polyposis coli (APC) family ( ... Adenomatous polyposis coli (APC) is a tumor suppressor protein that induces the degradation of oncogenic beta-catenin and ... Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.. J. Cell. Sci. 120 3327-35 2007 ... Structural basis for the recognition of Asef by adenomatous polyposis coli.. Cell Res. 22 372-86 2012 ...
more infohttp://www.ebi.ac.uk/interpro/entry/IPR026836
Adenomatous polyposis coli (APC)  family (IPR026818) | InterPro | EMBL-EBI  Adenomatous polyposis coli (APC) family (IPR026818) | InterPro | EMBL-EBI
Adenomatous polyposis coli (APC) family (IPR026818) *Adenomatous polyposis coli (IPR026836). *Adenomatous polyposis coli 2 ( ... Adenomatous polyposis coli (APC) family (IPR026818). Short name: Apc_fam Overlapping homologous superfamilies *Adenomatous ... The adenomatous polyposis coli protein family also includes APC2 [PMID: 10021369, PMID: 11691822] and APC-related protein 1 [ ... Adenomatous polyposis coli (APC) is a tumor suppressor protein that induces the degradation of oncogenic beta-catenin and ...
more infohttp://www.ebi.ac.uk/interpro/entry/IPR026818
Identification and characterization of the familial adenomatous polyposis coli gene.  - PubMed - NCBI  Identification and characterization of the familial adenomatous polyposis coli gene. - PubMed - NCBI
Identification and characterization of the familial adenomatous polyposis coli gene.. Groden J1, Thliveris A, Samowitz W, ... DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/1651174?dopt=Abstract
RCSB PDB - Protein Feature View 









 - Adenomatous polyposis coli protein - P25054 (APC HUMAN)  RCSB PDB - Protein Feature View - Adenomatous polyposis coli protein - P25054 (APC HUMAN)
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
more infohttp://www.rcsb.org/pdb/protein/P25054
The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules | PNAS  The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules | PNAS
The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules. Lisbeth Berrueta, ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ...
more infohttps://www.pnas.org/content/95/18/10596?ijkey=86ca88e0e1cef3cddc4dda3ffda41e4e62ce6159&keytype2=tf_ipsecsha
Adenomatous Polyposis Coli ELISA & Assay Kits  Adenomatous Polyposis Coli ELISA & Assay Kits
Compare and order Adenomatous Polyposis Coli ELISA Kits. View citations, images, detection ranges, sensitivity, prices and more ... adenomatosis polyposis coli , adenomatous polyposis coli protein , multiple intestinal neoplasia , adenomatosis polyposis coli ... Adenomatous Polyposis Coli ELISA Kit. 18 products by 10 suppliers: Abbexa , EIAab , Assay Biotechnology , Cloud-Clone , ... tumor suppressor , deleted in polyposis 2.5 , protein phosphatase 1, regulatory subunit 46 , adenomatous polyposis coli homolog ...
more infohttps://www.antibodies-online.com/wnt-signaling-pathway-10/apc-elisa-kit-743/
Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer | Cancer Research  Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer | Cancer Research
3 The abbreviations used are: APC, adenomatous polyposis coli; FAP, familial adenomatous polyposis; GI, gastrointestinal tract ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ...
more infohttps://cancerres.aacrjournals.org/content/60/16/4366?ijkey=a36507b89e9fc1f355691aecf41914f6c9e22adf&keytype2=tf_ipsecsha
  • The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. (bmj.com)