Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).Ataxia Telangiectasia Mutated Proteins: A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.Telangiectasis: Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.Telangiectasia, Hereditary Hemorrhagic: An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.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.Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)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.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.Retinal Telangiectasis: A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)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.DNA Damage: Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.Spinocerebellar Ataxias: A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)Radiation, Ionizing: ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.Checkpoint Kinase 2: Enzyme activated in response to DNA DAMAGE involved in cell cycle arrest. The gene is located on the long (q) arm of chromosome 22 at position 12.1. In humans it is encoded by the CHEK2 gene.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.Gait Ataxia: Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.Gamma Rays: Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 - 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.Radiation Tolerance: The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.DNA-Activated Protein Kinase: A serine-threonine protein kinase that, when activated by DNA, phosphorylates several DNA-binding protein substrates including the TUMOR SUPPRESSOR PROTEIN P53 and a variety of TRANSCRIPTION FACTORS.Epistaxis: Bleeding from the nose.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Pyrones: Keto-pyrans.Activin Receptors, Type II: One of the two types of ACTIVIN RECEPTORS. They are membrane protein kinases belonging to the family of PROTEIN-SERINE-THREONINE KINASES. The major type II activin receptors are ActR-IIA and ActR-IIB.Arteriovenous Malformations: Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.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.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.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.Dose-Response Relationship, Radiation: The relationship between the dose of administered radiation and the response of the organism or tissue to the radiation.Cell Cycle: The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.Nijmegen Breakage Syndrome: A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.Streptonigrin: Complex cytotoxic antibiotic obtained from Streptomyces flocculus or S. rufochronmogenus. It is used in advanced carcinoma and causes leukopenia.CREST Syndrome: A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Protein Kinases: A family of enzymes that catalyze the conversion of ATP and a protein to ADP and a phosphoprotein.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.G2 Phase: The period of the CELL CYCLE following DNA synthesis (S PHASE) and preceding M PHASE (cell division phase). The CHROMOSOMES are tetraploid in this point.DNA Replication: The process by which a DNA molecule is duplicated.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Ultraviolet 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.X-Rays: Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.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.Infrared Rays: That portion of the electromagnetic spectrum usually sensed as heat. Infrared wavelengths are longer than those of visible light, extending into the microwave frequencies. They are used therapeutically as heat, and also to warm food in restaurants.Genes, cdc: Genes that code for proteins that regulate the CELL DIVISION CYCLE. These genes form a regulatory network that culminates in the onset of MITOSIS by activating the p34cdc2 protein (PROTEIN P34CDC2).Nucleic Acid Synthesis Inhibitors: Compounds that inhibit cell production of DNA or RNA.Replication Protein A: A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.Cell Line, Tumor: A cell line derived from cultured tumor cells.S Phase: Phase of the CELL CYCLE following G1 and preceding G2 when the entire DNA content of the nucleus is replicated. It is achieved by bidirectional replication at multiple sites along each chromosome.Cell Line, Transformed: Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.DNA Repair Enzymes: Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.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.Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.G2 Phase Cell Cycle Checkpoints: CELL CYCLE regulatory signaling systems that are triggered by DNA DAMAGE or lack of nutrients during G2 PHASE. When triggered they restrain cells transitioning from G2 phase to M PHASE.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Aphidicolin: An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells.Telomeric Repeat Binding Protein 2: A ubiquitously expressed telomere-binding protein that is present at TELOMERES throughout the cell cycle. It is a suppressor of telomere elongation and may be involved in stabilization of telomere length. It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues.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.Iron-Binding Proteins: Proteins that specifically bind to IRON.Cell Cycle Checkpoints: Regulatory signaling systems that control the progression through the CELL CYCLE. They ensure that the cell has completed, in the correct order and without mistakes, all the processes required to replicate the GENOME and CYTOPLASM, and divide them equally between two daughter cells. If cells sense they have not completed these processes or that the environment does not have the nutrients and growth hormones in place to proceed, then the cells are restrained (or "arrested") until the processes are completed and growth conditions are suitable.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).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Cardiac Output, High: A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and ANOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE.Hydroxyurea: An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.Activin Receptors, Type I: One of the two types of ACTIVIN RECEPTORS or activin receptor-like kinases (ALK'S). There are several type I activin receptors. The major active ones are ALK-2 (ActR-IA) and ALK-4 (ActR-IB).MorpholinesMutation, 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)Comet Assay: A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.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.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Homozygote: An individual in which both alleles at a given locus are identical.Bleomycin: A complex of related glycopeptide antibiotics from Streptomyces verticillus consisting of bleomycin A2 and B2. It inhibits DNA metabolism and is used as an antineoplastic, especially for solid tumors.Caffeine: A methylxanthine naturally occurring in some beverages and also used as a pharmacological agent. Caffeine's most notable pharmacological effect is as a central nervous system stimulant, increasing alertness and producing agitation. It also relaxes SMOOTH MUSCLE, stimulates CARDIAC MUSCLE, stimulates DIURESIS, and appears to be useful in the treatment of some types of headache. Several cellular actions of caffeine have been observed, but it is not entirely clear how each contributes to its pharmacological profile. Among the most important are inhibition of cyclic nucleotide PHOSPHODIESTERASES, antagonism of ADENOSINE RECEPTORS, and modulation of intracellular calcium handling.Alkylating Agents: Highly reactive chemicals that introduce alkyl radicals into biologically active molecules and thereby prevent their proper functioning. Many are used as antineoplastic agents, but most are very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. They have also been used as components in poison gases.Cerebellum: The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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.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.Syndrome: A characteristic symptom complex.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Intracellular Signaling Peptides and Proteins: Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.RNA, Small Interfering: Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.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.DNA Ligases: Poly(deoxyribonucleotide):poly(deoxyribonucleotide)ligases. Enzymes that catalyze the joining of preformed deoxyribonucleotides in phosphodiester linkage during genetic processes during repair of a single-stranded break in duplex DNA. The class includes both EC 6.5.1.1 (ATP) and EC 6.5.1.2 (NAD).Cell Aging: The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.G1 Phase: The period of the CELL CYCLE preceding DNA REPLICATION in S PHASE. Subphases of G1 include "competence" (to respond to growth factors), G1a (entry into G1), G1b (progression), and G1c (assembly). Progression through the G1 subphases is effected by limiting growth factors, nutrients, or inhibitors.Mice, 129 Strain: Strains of mice arising from a parental inbred stock that was subsequently used to produce substrains of knockout and other mutant mice with targeted mutations.RNA Interference: A gene silencing phenomenon whereby specific dsRNAs (RNA, DOUBLE-STRANDED) trigger the degradation of homologous mRNA (RNA, MESSENGER). The specific dsRNAs are processed into SMALL INTERFERING RNA (siRNA) which serves as a guide for cleavage of the homologous mRNA in the RNA-INDUCED SILENCING COMPLEX. DNA METHYLATION may also be triggered during this process.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.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)Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)Machado-Joseph Disease: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)Cyclin-Dependent Kinase Inhibitor p21: A cyclin-dependent kinase inhibitor that mediates TUMOR SUPPRESSOR PROTEIN P53-dependent CELL CYCLE arrest. p21 interacts with a range of CYCLIN-DEPENDENT KINASES and associates with PROLIFERATING CELL NUCLEAR ANTIGEN and CASPASE 3.Oxidative Stress: A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Enzyme Activation: Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.Retinal DiseasesRecombination, 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.HCT116 Cells: Human COLORECTAL CARCINOMA cell line.Camptothecin: An alkaloid isolated from the stem wood of the Chinese tree, Camptotheca acuminata. This compound selectively inhibits the nuclear enzyme DNA TOPOISOMERASES, TYPE I. Several semisynthetic analogs of camptothecin have demonstrated antitumor activity.Poly(ADP-ribose) Polymerases: Enzymes that catalyze the transfer of multiple ADP-RIBOSE groups from nicotinamide-adenine dinucleotide (NAD) onto protein targets, thus building up a linear or branched homopolymer of repeating ADP-ribose units i.e., POLY ADENOSINE DIPHOSPHATE RIBOSE.Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue.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.Gene Rearrangement, T-Lymphocyte: Ordered rearrangement of T-cell variable gene regions coding for the antigen receptors.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Leucine Zippers: DNA-binding motifs formed from two alpha-helixes which intertwine for about eight turns into a coiled coil and then bifurcate to form Y shaped structures. Leucines occurring in heptad repeats end up on the same sides of the helixes and are adjacent to each other in the stem of the Y (the "zipper" region). The DNA-binding residues are located in the bifurcated region of the Y.Angiodysplasia: Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA.Trinucleotide Repeat Expansion: An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.cdc25 Phosphatases: A subclass of dual specificity phosphatases that play a role in the progression of the CELL CYCLE. They dephosphorylate and activate CYCLIN-DEPENDENT KINASES.Phosphatidylinositol 3-Kinases: Phosphotransferases that catalyzes the conversion of 1-phosphatidylinositol to 1-phosphatidylinositol 3-phosphate. Many members of this enzyme class are involved in RECEPTOR MEDIATED SIGNAL TRANSDUCTION and regulation of vesicular transport with the cell. Phosphatidylinositol 3-Kinases have been classified both according to their substrate specificity and their mode of action within the cell.Topoisomerase I Inhibitors: Compounds that inhibit the activity of DNA TOPOISOMERASE I.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.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.Karyotyping: Mapping of the KARYOTYPE of a cell.Radiation-Sensitizing Agents: Drugs used to potentiate the effectiveness of radiation therapy in destroying unwanted cells.Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Intracranial Arteriovenous Malformations: Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.Proto-Oncogene Proteins c-abl: Non-receptor tyrosine kinases encoded by the C-ABL GENES. They are distributed in both the cytoplasm and the nucleus. c-Abl plays a role in normal HEMATOPOIESIS especially of the myeloid lineage. Oncogenic transformation of c-abl arises when specific N-terminal amino acids are deleted, releasing the kinase from negative regulation.Androstadienes: Derivatives of the steroid androstane having two double bonds at any site in any of the rings.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Proto-Oncogene Proteins c-mdm2: An E3 UBIQUITIN LIGASE that interacts with and inhibits TUMOR SUPPRESSOR PROTEIN P53. Its ability to ubiquitinate p53 is regulated by TUMOR SUPPRESSOR PROTEIN P14ARF.Enzyme Inhibitors: Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.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.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.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.Telomerase: An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.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.

p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. (1/586)

Although broken chromosomes can induce apoptosis, natural chromosome ends (telomeres) do not trigger this response. It is shown that this suppression of apoptosis involves the telomeric-repeat binding factor 2 (TRF2). Inhibition of TRF2 resulted in apoptosis in a subset of mammalian cell types. The response was mediated by p53 and the ATM (ataxia telangiectasia mutated) kinase, consistent with activation of a DNA damage checkpoint. Apoptosis was not due to rupture of dicentric chromosomes formed by end-to-end fusion, indicating that telomeres lacking TRF2 directly signal apoptosis, possibly because they resemble damaged DNA. Thus, in some cells, telomere shortening may signal cell death rather than senescence.  (+info)

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (2/586)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.  (+info)

Replication-mediated DNA damage by camptothecin induces phosphorylation of RPA by DNA-dependent protein kinase and dissociates RPA:DNA-PK complexes. (3/586)

Replication protein A (RPA) is a DNA single-strand binding protein essential for DNA replication, recombination and repair. In human cells treated with the topoisomerase inhibitors camptothecin or etoposide (VP-16), we find that RPA2, the middle-sized subunit of RPA, becomes rapidly phosphorylated. This response appears to be due to DNA-dependent protein kinase (DNA-PK) and to be independent of p53 or the ataxia telangiectasia mutated (ATM) protein. RPA2 phosphorylation in response to camptothecin required ongoing DNA replication. Camptothecin itself partially inhibited DNA synthesis, and this inhibition followed the same kinetics as DNA-PK activation and RPA2 phosphorylation. DNA-PK activation and RPA2 phosphorylation were prevented by the cell-cycle checkpoint abrogator 7-hydroxystaurosporine (UCN-01), which markedly potentiates camptothecin cytotoxicity. The DNA-PK catalytic subunit (DNA-PKcs) was found to bind RPA which was replaced by the Ku autoantigen upon camptothecin treatment. DNA-PKcs interacted directly with RPA1 in vitro. We propose that the encounter of a replication fork with a topoisomerase-DNA cleavage complex could lead to a juxtaposition of replication fork-associated RPA and DNA double-strand end-associated DNA-PK, leading to RPA2 phosphorylation which may signal the presence of DNA damage to an S-phase checkpoint mechanism. KEYWORDS: camptothecin/DNA damage/DNA-dependent protein kinase/RPA2 phosphorylation  (+info)

Requirement of ATM in phosphorylation of the human p53 protein at serine 15 following DNA double-strand breaks. (4/586)

Microinjection of the restriction endonuclease HaeIII, which causes DNA double-strand breaks with blunt ends, induces nuclear accumulation of p53 protein in normal and xeroderma pigmentosum (XP) primary fibroblasts. In contrast, this induction of p53 accumulation is not observed in ataxia telangiectasia (AT) fibroblasts. HaeIII-induced p53 protein in normal fibroblasts is phosphorylated at serine 15, as determined by immunostaining with an antibody specific for phosphorylated serine 15 of p53. This phosphorylation correlates well with p53 accumulation. Treatment with lactacystin (an inhibitor of the proteasome) or heat shock leads to similar levels of p53 accumulation in normal and AT fibroblasts, but the p53 protein lacks a phosphorylated serine 15. Following microinjection of HaeIII into lactacystin-treated normal fibroblasts, lactacystin-induced p53 protein is phosphorylated at serine 15 and stabilized even in the presence of cycloheximide. However, neither stabilization nor phosphorylation at serine 15 is observed in AT fibroblasts under the same conditions. These results indicate the significance of serine 15 phosphorylation for p53 stabilization after DNA double-strand breaks and an absolute requirement for ATM in this phosphorylation process.  (+info)

Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia. (5/586)

Mortality from cancer among 178 parents and 236 grandparents of 95 British patients with ataxia-telangiectasia was examined. For neither parents nor grandparents was mortality from all causes or from cancer appreciably elevated over that of the national population. Among mothers, three deaths from breast cancer gave rise to a standardized mortality ratio of 3.37 (95% confidence interval (CI): 0.69-9.84). In contrast, there was no excess of breast cancer in grandmothers, the standardized mortality ratio being 0.89 (95% CI: 0.18-2.59), based on three deaths. This is the largest study of families of ataxia-telangiectasia patients conducted in Britain but, nonetheless, the study is small and CIs are wide. However, taken together with data from other countries, an increased risk of breast cancer among female heterozygotes is still apparent, though lower than previously thought.  (+info)

Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. (6/586)

Ataxia telangiectasia (AT) is a complex autosomal recessive disorder that has been associated with a wide range of physiological defects including an increased sensitivity to ionizing radiation and abnormal checkpoints in the cell cycle. The mutated gene product, ATM, has a domain possessing homology to phosphatidylinositol-3-kinase and has been shown to possess protein kinase activity. In this study, we have investigated how AT affects myo-inositol metabolism and phospholipid synthesis using cultured human fibroblasts. In six fibroblast lines from patients with AT, myo-inositol accumulation over a 3-h period was decreased compared to normal fibroblasts. The uptake and incorporation of myo-inositol into phosphoinositides over a 24-h period, as well as the free myo-inositol content was also lower in some but not all of the AT fibroblast lines. A consistent finding was that the proportion of 32P in total labeled phospholipid that was incorporated into phosphatidylglycerol was greater in AT than normal fibroblasts, whereas the fraction of radioactivity in phosphatidic acid was decreased. Turnover studies revealed that AT cells exhibit a less active phospholipid metabolism as compared to normal cells. In summary, these studies demonstrate that two manifestations of the AT defect are alterations in myo-inositol metabolism and phospholipid synthesis. These abnormalities could have an effect on cellular signaling pathways and membrane production, as well as on the sensitivity of the cells to ionizing radiation and proliferative responses.  (+info)

Cell cycle control, checkpoint mechanisms, and genotoxic stress. (7/586)

The ability of cells to maintain genomic integrity is vital for cell survival and proliferation. Lack of fidelity in DNA replication and maintenance can result in deleterious mutations leading to cell death or, in multicellular organisms, cancer. The purpose of this review is to discuss the known signal transduction pathways that regulate cell cycle progression and the mechanisms cells employ to insure DNA stability in the face of genotoxic stress. In particular, we focus on mammalian cell cycle checkpoint functions, their role in maintaining DNA stability during the cell cycle following exposure to genotoxic agents, and the gene products that act in checkpoint function signal transduction cascades. Key transitions in the cell cycle are regulated by the activities of various protein kinase complexes composed of cyclin and cyclin-dependent kinase (Cdk) molecules. Surveillance control mechanisms that check to ensure proper completion of early events and cellular integrity before initiation of subsequent events in cell cycle progression are referred to as cell cycle checkpoints and can generate a transient delay that provides the cell more time to repair damage before progressing to the next phase of the cycle. A variety of cellular responses are elicited that function in checkpoint signaling to inhibit cyclin/Cdk activities. These responses include the p53-dependent and p53-independent induction of Cdk inhibitors and the p53-independent inhibitory phosphorylation of Cdk molecules themselves. Eliciting proper G1, S, and G2 checkpoint responses to double-strand DNA breaks requires the function of the Ataxia telangiectasia mutated gene product. Several human heritable cancer-prone syndromes known to alter DNA stability have been found to have defects in checkpoint surveillance pathways. Exposures to several common sources of genotoxic stress, including oxidative stress, ionizing radiation, UV radiation, and the genotoxic compound benzo[a]pyrene, elicit cell cycle checkpoint responses that show both similarities and differences in their molecular signaling.  (+info)

Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. (8/586)

Mutations in the Ataxia Telangiectasia Mutated (ATM) gene are responsible for the autosomal recessive disease Ataxia Telangiectasia (A-T). A wide variety of mutations scattered across the entire coding region (9168bp) of ATM have been found, which presents a challenge in developing an efficient mutation screening strategy for detecting unknown mutations. Fluorescent chemical cleavage of mismatch (FCCM) is an ideal mutation screening method, offering a non-radioactive alternative to other techniques such as restriction endonuclease fingerprinting (REF). Using FCCM, we have developed an efficient, accurate and sensitive mutation detection method for screening RT-PCR products for ATM mutations. We have identified seven ATM mutations in five A-T families, four of which are previously unknown. We quantified ATM protein expression in four of the families and found variable ATM protein expression (0-6.4%), further evidence for mutant ATM protein expression in both classic and variant A-T patients. We conclude that FCCM offers a robust ATM mutation detection method and can be used to screen for ATM mutations in cancer-prone populations.  (+info)

*Ataxia-telangiectasia

... (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... These include: Ataxia oculomotor apraxia type 1 (AOA1) Ataxia oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia ... Most often the ataxia appears between 10 and 15 years of age, and differs from A-T by the absence of telangiectasia and ... Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be ...

*Ataxia telangiectasia and Rad3 related

... has been shown to interact with: BRCA1, CHD4, HDAC2, MSH2, P53 RAD17, and RHEB. GRCh38: ... Gatei M, Zhou BB, Hobson K, Scott S, Young D, Khanna KK (May 2001). "Ataxia telangiectasia mutated (ATM) kinase and ATM and ... Serine/threonine-protein kinase ATR also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein ... Chen J (Sep 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following ...

*Therapeutic index

Patients with Ataxia telangiectasia delays have hypersensitivity to radiation due to the delay of accumulation of p53. In this ... "Ataxia Telangiectasia". National Cancer Institute. Retrieved 2016-04-11. Soriani RR, Satomi LC, Pinto Td (2005-07-01). "Effects ...

*DNA ligase

"ataxia-telangiectasia". Genetics Home Reference. Retrieved 2017-05-15. "What Is Fanconi Anemia?". NHLBI, NIH. Retrieved 2017-05 ... Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps ...

*Papworth Hospital

... the ataxia telangiectasia service; services for patients with pulmonary fibrosis, vasculitis, and rare diseases including ...

*ATM serine/threonine kinase

DNA repair Ataxia telangiectasia Ataxia telangiectasia and Rad3 related GRCh38: Ensembl release 89: ENSG00000149311 - Ensembl, ... ataxia-telangiectasia mutated, reflected that the disorder ataxia-telangiectasia is caused by mutations of ATM. Throughout the ... The Interactive Fly GeneReviews/NCBI/NIH/UW entry on Ataxia telangiectasia OMIM entries on Ataxia telangiectasia Human ATM ... Ataxia telangiectasia mutated has been shown to interact with: Abl gene, BRCA1, Bloom syndrome protein, DNA-PKcs, FANCD2, ...

*Alpha-fetoprotein

Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". J. Clin. Pathol. 58 (10): 1009-15. doi: ... the liver Nonseminomatous germ cell tumors Yolk sac tumor other conditions associated with elevated AFP Ataxia telangiectasia: ...

*Stem cell theory of aging

1996). "Accelerated telomere shortening in ataxia telangiectasia". Nat. Genet. 13: 350-353. doi:10.1038/ng0796-350. Hastie ND, ...

*NPAT (gene)

"Entrez Gene: NPAT nuclear protein, ataxia-telangiectasia locus". Zheng L, Roeder RG, Luo Y (Jul 2003). "S phase activation of ... half of the gene for ataxia telangiectasia". Human Molecular Genetics. 5 (1): 145-9. doi:10.1093/hmg/5.1.145. PMID 8789452. ...

*Penelope Jeggo

"The Ataxia-Telangiectasia Society Annual Report and Accounts" (PDF). 2014. "Information for ICRR2015". Journal of Radiation ... In 2014, Jeggo was the chair of the Scientific Advisory Board for the Ataxia-Telangiectasia Society. Jeggo was an invited ... She found that a mutation in ataxia telangiectasia mutated kinase (ATM) causes damage to DNA and chromatin structure. Jeggo's ... In her most recent publication, Jeggo worked with other researchers on the Ataxia telangiectasia and RAD3-related protein (ATR ...

*EZH2

... ataxia telangiectasia. EZH2 is the catalytic subunit of the Polycomb Repressive Complex 2 (PRC2). EZH2's catalytic activity ... "EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia". Nat. Neurosci. 16 (12): 1745-53. doi: ...

*SH3D21

However, research has linked SH3D21 expression changes to male infertility and Ataxia Telangiectasia. Further studies have ... "Newborn screening for SCID identifies patients with ataxia telangiectasia". Journal of Clinical Immunology. 33 (3): 540-9. doi: ...

*Nuclease

Mutations of Mre11 can precipitate ataxia-telangiectasia-like disorder. V(D)J recombination involves opening stem-loops ...

*FANCD2

Castillo P, Bogliolo M, Surralles J (2011). "Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in ... FANCI Ataxia telangiectasia mutated, BARD1, BRCA1. BRCA2, FANCE, HTATIP, and MEN1. GRCh38: Ensembl release 89: ENSG00000144554 ... "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-72. doi:10.1016/S0092-8674( ... "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-472. doi:10.1016/S0092-8674 ...

*PLK3

Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ (2000). "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo ...

*Michael Stratton

August 2006). "ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles". Nat. Genet. 38 (8): ...

*RRM2B

... has been shown to interact with Mdm2 and Ataxia telangiectasia mutated. Abnormalities in this gene are one of the causes ...

*Simon N. Powell

"High Frequency and Error-prone DNA Recombination in Ataxia Telangiectasia Cell Lines". Journal of Biological Chemistry. 271 (8 ...

*Rad50

2000). "Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products". Nature. 405 (6785): 473-7 ...

*SMC1A

... has been shown to interact with SMC3 and Ataxia telangiectasia mutated. SMC protein Cornelia de Lange Syndrome GRCh38: ...

*RBBP8

Li S, Ting NS, Zheng L, Chen PL, Ziv Y, Shiloh Y, Lee EY, Lee WH (2000). "Functional link of BRCA1 and ataxia telangiectasia ... "Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response". Nature. 406 (6792): 210-5. doi:10.1038 ...

*Betamethasone

"A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia". Movement disorders: official ... In a randomized controlled trial betamethasone was shown to reduce some of the ataxia symptoms associated with ataxia ... telangiectasia (A-T) by 28-31%. Betamethasone is also used to stimulate fetal lung maturation (to prevent IRDS), and to ...

*TRIM29

Tauchi H, Green C, Knapp M, Laderoute K, Kapp L (2000). "Altered splicing of the ATDC message in ataxia telangiectasia group D ... Hosoi Y, Kapp LN (1994). "Expression of a candidate ataxia-telangiectasia group D gene in cultured fibroblast cell lines and ... Laderoute KR, Knapp AM, Green CJ, Sutherland RM, Kapp LN (1996). "Expression of the ATDC (ataxia telangiectasia group D- ... Leonhardt EA, Kapp LN, Young BR, Murnane JP (1994). "Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia ...

*TOP2B

Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two ...

*TOP2A

Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. TOP2A has been shown to interact with HDAC1, ...

*List of diseases (C)

... agenesis Cerebellar ataxia areflexia pes cavus optic atrophy Cerebellar ataxia ectodermal dysplasia Cerebellar ataxia infantile ... Calcinosis Raynaud's Esophagus Sclerodactyly Telangiectasia) Cretinism athyreotic Cretinism Creutzfeldt-Jakob disease Cri du ... congenital ichthyosis Cataract aberrant oral frenula growth retardation Cataract anterior polar dominant Cataract ataxia ... with progressive external ophthalmoplegia Cerebellar ataxia, dominant pure Cerebellar degeneration, subacute Cerebellar ...
TY - JOUR. T1 - Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts. AU - Li, Yuling. AU - Carty, Michael P.. AU - Oakley, Gregory G.. AU - Seidman, Michael M.. AU - Medvedovic, Mario. AU - Dixon, Kathleen. PY - 2001/1/1. Y1 - 2001/1/1. N2 - Ataxia telangiectasia (A-T) is a human genetic disorder characterized by progressive cerebellar degeneration, hypersensitivity to ionizing radiation (IR), immunodeficiency, and high cancer risk. At the cellular level, IR sensitivity and increased frequency of spontaneous and IR-induced chromosomal breakage and rearrangements are the hallmarks of A-T. The ATM gene, mutated in this syndrome, has been cloned and codes for a protein sharing homology with DNA-PKcs, a protein kinase involved in DNA double-strand break (DSB) repair and DNA damage responses. The characteristics of the A-T cellular phenotypes and ATM gene suggest that ATM may play a role similar to that of DNA-PKcs in DSB repair ...
We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity.. ...
Ataxia-telangiectasia (AT) is a rare progressive neurodegenerative autosomal recessive disorder characterized by cerebellar ataxia, neuromotor dysfunction, oculocutaneous telangiectasia and immunodeficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. Life expectancy does not correlate well with severity of neurological impairment. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. The immunodeficiency of AT patient consists of both humoral defect (immunoglobulin deficiency and reduced response to polysaccharide antigens) and cell-mediated defect (reduced lymphocytes number and function). Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already ...
Ataxia-telangiectasia (AT) is a rare progressive neurodegenerative autosomal recessive disorder characterized by cerebellar ataxia, neuromotor dysfunction, oculocutaneous telangiectasia and immunodeficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. Life expectancy does not correlate well with severity of neurological impairment. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. The immunodeficiency of AT patient consists of both humoral defect (immunoglobulin deficiency and reduced response to polysaccharide antigens) and cell-mediated defect (reduced lymphocytes number and function). Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already ...
Cellular response to DNA damage is critical to maintain genomic stability. When a double-strand break (DSB) occurs, the cell activates its checkpoint machinery to halt cell cycle progression and allow proper DSB repair (1). Without such response and repair, the cell will eventually undergo apoptosis or pass on its altered DNA to daughter cells. Checkpoints are enabled through sensing DNA damage, transducing damage signals, and activating effectors. Mechanisms by which DNA damage signals are initiated have begun to be revealed (1, 2) . PI-3-like kinases, including ataxia-telangiectasia mutated (ATM), ATM and Rad3-related (ATR), and DNA-PK are believed to play central roles (3). ATM is mutated (lost or inactivated) in the human genetic disorder ataxia-telangiectasia and could be the primary kinase responsible for DSB signaling transduction. Structural chromatin changes activate ATM, which then phosphorylates itself (4). Activated, autophosphorylated ATM in turn phosphorylates the checkpoint ...
Our experimental results establish that tissues from Atm-deficient mice are under oxidative stress and suffer oxidative damage. We and others have identified defects in molecular pathways that lead to abnormalities in the response of cells to ionizing radiation, meiosis, and T cell development where DNA double-strand breaks occur (1, 3-5, 20-23). In addition, several reports have implicated ATM as a serine protein kinase that phosphorylates p53 and chk2, leading to cell cycle arrest after ionizing radiation (24-27). Why would defects in these pathways result in oxidative stress, especially in the adult brain? The majority of cells in the central nervous system are postmitotic and there is no evidence of DNA recombination or significant DNA double-strand breaks in the central nervous system in the absence of ionizing radiation. We infer that ATM also functions to protect biomolecules other than DNA from oxidative damage. Studies from many investigators have established that lipids and proteins ...
Cancer rates were significantly higher in the group of blood relatives than in their spouses, specifically in the subgroup of 294 blood relatives who were known to be heterozygous for the ataxia-telangiectasia gene. The estimated risk of cancer of all types among heterozygotes as compared with noncarriers was 3.8 in men and 3.5 in women, and that for breast cancer in women was 5.1. Among the blood relatives, women with breast cancer were more likely to have been exposed to selected sources of ionizing radiation than controls without cancer (odds ratio = 5.8, P = 0.005). Male and female blood relatives also had 3-fold and 2.6-fold excess mortality from all causes, respectively, from the ages of 20 through 59 years. Conclusions: ...
Ataxia Telangiectasia & Immunoglobulin M Decreased Symptom Checker: Possible causes include Ataxia Telangiectasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Read stories about Ataxia Telangiectasia on Medium. Discover smart, unique perspectives on Ataxia Telangiectasia and the topics that matter most to you like care coordination, cscw2019, eltern, healthcare, and hoffnung.
Synonyms for Ataxia-telangiectasia in Free Thesaurus. Antonyms for Ataxia-telangiectasia. 3 synonyms for ataxia: ataxy, dyssynergia, motor ataxia. What are synonyms for Ataxia-telangiectasia?
Yosef Shiloh, a David and Inez Myers professor in cancer research at Tel Aviv Universitys Sackler Faculty of Medicine, was selected to receive the 2011 Israel Prize, Israels most distinguished national honor. The prize is awarded by the Israeli Ministry of Education to Israeli citizens who have demonstrated excellence in their chosen profession. Earlier this year Shiloh was the first Israeli to receive the 51st annual G.H.A. Clowes Award from the American Association for Cancer Research. He was honored for his studies on the cellular DNA damage response and the rare genomic instability syndrome ataxia-telangiectasia.. Shiloh has been investigating ataxia-telangiectasia and the defect in the DNA damage response that leads to this disease for more than 30 years. He revolutionized the field when his lab identified the ataxia-telangiectasia gene in 1995 and successfully cloned it, calling it ataxia-telangiectasia mutated. The identification of the ATM gene opened many new avenues of inquiry and ...
Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia A-T Patients Using a LC-MS-Based Label-Free Protein Quantification Technology. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
In a critical process known as the "DNA damage checkpoint," cells monitor their DNA for damage and halt cell division until the damage has been repaired. Kondo et al. (p. 867) now show that two yeast proteins that function in signaling that DNA damage has occurred actually bind close to the site of damage, but do so in distinct ways. They used a chromatin immunoprecipitation method to detect proteins that bound to double-stranded break in the DNA resulting from continuous expression of the HO endonuclease. One of the proteins bound, Mec1, belongs to a family of protein kinases that includes the ATM protein mutated in the human disease ataxia telangiectasia. Another protein bound at the site of damage was Ddc1, itself thought to be a DNA-binding protein that may recruit other proteins to a complex formed at the damage site. Recruitment of Ddc1, but not that of Mec1, required the action of another participant in the checkpoint pathway, called Rad24. The results help clarify how cells recognize ...
Ravi, Srimadhavi; Barui, Sugata and Kirubakaran, Sivapriya, "Targeting the Ataxia Telangiectasia Mutated (ATM) kinase for alleviating cancer", in the 68th Gordon Research Conference for Natural Products and Bioactive Compounds, Proctor Academy, Andover, NH, US, Jul. 28- Aug. 2, 2019 ...
A fact sheet about ataxia telangiectasia (A-T), a rare, recessive genetic disorder of childhood that occurs in between one out of 40,000 and one out of 100,000 persons worldwide.
Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents repair of broken DNA, increasing the risk of cancer. Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age, they develop difficulty moving their eyes in a natural manner from one place to the next (oculomotor ...
Ataxia Telangiectasia is a progressive degenerative disease which affects various systems of the body. First signs of the disease usually appear during the second year of life.
The effect of ataxia-telangiectasia mutated kinase-dependent hyperphosphorylation of checkpoint kinase-2 on oligodeoxynucleotide 7909 containing CpG motifs-enhanced sensitivity to X-rays in human lung adenocarcinoma A549 cells Xiaoqun Liu,1,* Xiangdong Liu,2,* Tiankui Qiao,1 Wei Chen,1 Sujuan Yuan1 1Department of Oncology, 2Department of Ophthalmology, Affiliated Jinshan Hospital, Fudan University, Shanghai, People’s Republic of China *These authors contributed equally to this work Objective: The aim of the study reported here was to further investigate the potential effect of ataxia-telangiectasia mutated (ATM) kinase-dependent hyperphosphorylation of checkpoint kinase-2 (Chk2) on radiosensitivity enhanced by oligodeoxynucleotide 7909 containing CpG motifs (CpG ODN7909) in human lung adenocarcinoma A549 cells. Methods: In vitro A549 cells were randomly separated into control, CpG, X-ray, CpG+X-ray, ATM kinase-small interfering RNA (siRNA)+CpG+X-ray (ATM-siRNA), and Chk2-siRNA+CpG+X-ray
Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew-shaped blood vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin; immunodeficiency involving both humoral (B-lymphocytes) and cellular (T-lymphocytes) immunity; and a high rate of cancer.
Several immunological abnormalities have been observed in ataxia-telangiectasia (AT), the most consistent being defects of immunoglobulin isotypes, decreased T-cell numbers, and reduced proliferative...
The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. The authors previously found that nuclear accumulation of histone deacetylase-4, HDAC4, contributes to this degeneration; they now report that increased trimethylation of histone H3 on Lys27 (H3K27me3) mediated by polycomb repressive complex 2 is also important in the A-T phenotype. [Nat Neurosci ...
An inherited (autosomal recessive) neurological disorder. Ataxia is usually noted early in life, and a key feature is the presence of dilated blood vessels visible in the sclerae of the eyes and on the cheeks and ears. Other symptoms may include slow slurred speech, abnormal eye movements, skin lesions, and immune deficiency. Affected individuals may develop malignant disease. A raised level of alpha-fetoprotein is found in the blood. ...
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TY - JOUR. T1 - Apurinic DNA endonuclease activities in repair-deficient human cell lines. AU - Moses, Robb. AU - Beaudet, Arthur L.. PY - 1978/2. Y1 - 1978/2. N2 - Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma pigmentosum (complementation group D), Cockayne dwarfism, Fanconi anemia and Bloom syndrome.. AB - Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived ...
TY - JOUR. T1 - Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia. T2 - Review of the literature. AU - Hummel, Jennifer M.. AU - Thorland, Erik C. AU - Lim, Megan S.. PY - 2010. Y1 - 2010. N2 - Ataxia telangiectasia (A-T) is a rare genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, and radiation sensitivity (Peterson et al. Lancet 283:1189-1193, 1964; Boder and Sedgwick Pediatrics 21:526-554, 1958; Taylor et al. Nature 258:427-429, 1975). Compared to the general population, patients with primary immunodeficiencies such as A-T have an increased rate of malignancy and an earlier age at presentation (Loeb et al. J Pediatr Hematol/Oncol 22:464-467, 2000; Taylor et al. Blood 87:423-438, 1996). We report the clinical, histopathologic, and molecular features of a 6-year-old child who presented with EBV-positive Hodgkin lymphoma (HL), which led to the diagnosis of ataxia ...
The kinase ATM is classically known for its role in coordinating the response to DNA damage. DNA damage is caused by various intracellular and extracellular stimuli, including oxidative stress and free radicals. Lee et al. found critical amino acid residues that enable ATM to coordinate a response to DNA damage that is independent of its response to oxidative stress. Activation of ATM by either pathway promoted mitochondrial function and autophagy, thus mediating cell survival through metabolic changes. ATM activation via oxidative stress additionally promoted the clearance of toxic protein aggregates. These findings expand the roles of ATM and suggest that the loss of ATM function, such as in the neurodegenerative disease ataxia telangiectasia (A-T), causes broader cellular stress than that limited to a defective DNA damage response. ...
Mutations in the ATM gene have previously been identified in CLL tumours. In this project, I have demonstrated that their detection would have prognostic value. With a prevalence of 12%, ATM mutations represent the commonest single gene defect to be detected in CLL tumours and they identified a subgroup of CLL patients that had a significant reduction in both treatment free and overall survival. Furthermore, ATM mutations provided prognostic information that was independent of age, clinical stage, the mutation status of the IGVH genes and TP53 mutations. The temporal acquisition of the ATM mutations and their relationship with loss of an ATM allele via a chromosomal 11q deletion provides clues into their mechanism of action. There was only a partial correlation between CLL tumours with mutations in the ATM gene and those with a chromosome 11q deletion. In certain cases, the ATM mutations represented germ-line changes and in others were acquired very early in the disease course raising the ...
Definition of ataxia telangiectasia syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Ataxia-telangiectasia (A-T) is a rare, autosomal recessive human disorder characterized by cerebellar ataxia, immunodeficiency, cancer predisposition, recurrent...
DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that affects between 1 in 40,000 to 1 in 100,000 individuals worldwide. It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. In addition, patients also exhibit a number of other clinical symptoms including increased susceptibility to cancer (lymphomas, leukemia, brain tumors), immunodeficiency, insulin-resistant diabetes, chromosomal instability, sensitivity to ionizing radiation, susceptibility to bronchopulmonary disease, and the absence, or almost complete absence, of a thymus. Current treatments for A-T are directed toward the management of symptoms. Physical and speechtherapy can improve the lives of patients, and -globulin injections can be given to support the immune system. However, no treatment is directed at the underlying defect. Consequently, A-T remains a fatal disease. The development of improved ...
We use human primary fibroblasts for comparing plasma and gamma rays induced DNA damage. In both cases, DNA strand breaks occur, but of fundamentally different nature. Unlike gamma exposure, contact with plasma predominantly leads to single strand breaks and base-damages, while double strand breaks are mainly consequence of the cell repair mechanisms. Different cell signaling mechanisms are detected confirming this (ataxia telangiectasia mutated - ATM and ataxia telangiectasia and Rad3 related - ATR, respectively). The effective plasma doses can be tuned to match the typical therapeutic doses of 2 Gy. Tailoring the effective dose through plasma power and duration of the treatment enables safety precautions mainly by inducing apoptosis and consequently reduced frequency of micronuclei. ...
R. John Davenport http://sageke.sciencemag.org/cgi/content/abstract/sageke;2001/9/nw35 Key Words: genomic instability ATR ATM Ataxia telangiectasia DNA repair double-strand breaks RAD26 DDC2. Abstract: In eukaryotic cells, protein sentries ensure that the genome is complete before cell division proceeds. When DNA is damaged or its replication machinery conks out, the genome guardians attach phosphate groups to other proteins; this chemical addition triggers these proteins to bring the cell cycle to a halt and activate DNA repair machinery. A breakdown in this system can impair health: People with a defective copy of the gene for one of those proteins--called ATM--suffer from a disorder known as ataxia telangiectasia (see Transgenic Mouse Entries: tg1, tg2, and tg3). Symptoms of the disorder include neuronal degeneration, weakened immunity, and increased risk of cancer. Although scientists know a fair amount about ATM, key information is missing about the activities of a related ...
ATM has been shown to have important roles in the transcriptional regulation of gene expression by phosphorylation of transcription factors, such as p53, nuclear factor κB, E2F, cyclic AMP-responsive element binding protein, and BRCA1, and in maintenance of the normal functions of IGF-IR and telomeres (3, 13, 14, 32). ATM-dependent gene expression has been systematically studied by comparing cell lines from normal individuals and AT patients, isogenic cell lines with restoration of ATM in AT cells or small interfering RNA knockdown of ATM in wild-type cells, and ATM+/+/ATM−/− mice (3, 13, 21-23). More than 300 genes have been reported to display ATM-dependent expression although few genes were commonly identified in two or more experiments. The microarray results presented here identified 160 genes or expressed sequence tags (∼1% of the total on the array) that were differentially expressed in normal and AT fibroblast lines under basal growth conditions, of which about half were ...
In previous research, we have demonstrated that tobacco smoke condensate (CSC), a surrogate for tobacco smoke, is with the capacity of changing the spontaneously immortalized human being breasts epithelial cell line, MCF10A. and is recognized as a marker for improved tumor quality 105628-72-6 and nodal metastasis (Olopade gene appearance in MCF10A cellular material. Our results recommend, for the very first time to our understanding, that C/EBP binds the promoter and induces its activity in MCF10A cellular material in response CSC treatment. Outcomes CSC treatment induces bcl-xl mRNA and proteins amounts in MCF10A cellular material To look for the aftereffect of CSC treatment on gene amounts, we treated MCF10A cellular material with increasing levels of CSC for 24 h and mRNA amounts had been assessed by RT-PCR (Fig. 1A). In these cellular material after normalization with mRNA, the mRNA appearance slightly reduces at lower concentrations (2.5 g/mL) and improves at higher concentrations of CSC ...
Pain management information for pain medicine healthcare professionals in treating and caring for their patients. Clinical Pain Advisor offers news, case studies and more.
Ataxia telangiectasia (A-T) is a rare, recessive, neurodegenerative disease, with symptoms that normally appear in early childhood. Initial indications are usually ataxia (a lack of muscle control leading to loss of balance and coordination) and telangiectasia (tiny red veins, which are most noticeable on the whites of the eyes). The most serious clinical problem is loss of Purkinje cells, leading to degeneration of the cerebellum (the bodys motor control centre). About 70% of sufferers also have thymic hypoplasia and a compromised immune system. Patients are also highly sensitive to X-irradiation and are susceptible to malignant tumors. Currently, there is no cure, nor any treatment that halts the progression of the disease.. A-T is caused by mutation of the ATM gene, which encodes a ubiquitous 370-kD serine-threonine kinase that is essential for normal repair of double-stranded DNA breaks; loss of ATM function results in DNA instability. However, there are atypical cases of A-T in which ATM ...
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Abstract Leukemia cells rely on two nucleotide biosynthetic pathways, de novo and salvage, to produce dNTPs for DNA replication. Here, using metabolomic, proteomic, and phosphoproteomic approaches, we show that inhibition of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces the output of both de novo and salvage pathways by regulating the […]. ...
Natalie Cole believed blood relatives arent the only ones worthy of being remembered in a will ... she is taking care of 2 friends who took good care of…
Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case presentation: An otherwise seemingly normal girl, who had developed limping at the age of 11 months old, referred to Namazi Hospital, Shiraz, Iran, due to pallor and latitude at the age of 3 yrs and was diagnosed with AIHA. After 2 years of therapeutic course she developed ocular telangiectasia and ataxic gate. Conclusion: This case emphasizes the possibility of ataxia telangiectasia coexistence with autoimmune disorders and must be taken into consideration by physicians.
Ataxia-telangiectasia (AT) is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re...
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Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by clinical manifestations that include progressive cerebellar ataxia, neuronal degeneration, hypersensitivity to ionizing radiation (IR), premature aging, hypogonadism, growth retardation, immune deficiency, and an increased risk for cancer (1). The gene mutated in A-T, ATM (ataxia telangiectasia-mutated), encodes a 370-kD protein that is a member of a family of proteins related to phosphatidylinositol 3-kinase (PI-3-K) that have either lipid or protein kinase activity. The subset of this family with the greatest identity to ATM functions in DNA repair, DNA recombination, and cell-cycle control (2, 3). Cell lines derived from A-T patients exhibit hypersensitivity to IR and defects in several IR-inducible cell-cycle checkpoints, including a diminished irradiation-induced arrest in the G1 phase of the cell-cycle mediated by the p53 tumor suppressor gene product (4, 5). In response to DNA damage, cells with wild-type ...
Cells of metazoan organisms respond to DNA damage by arresting their cell cycle to repair DNA, or they undergo apoptosis. Two protein kinases, ataxia-telangiectasia mutated (ATM) and ATM and Rad-3 related (ATR), are sensors for DNA damage. In humans, ATM is mutated in patients with ataxia-telangiectasia (A-T), resulting in hypersensitivity to ionizing radiation (IR) and increased cancer susceptibility. Cells from A-T patients exhibit chromosome aberrations and excessive spontaneous apoptosis. We used Drosophila as a model system to study ATM function. Previous studies suggest that mei-41 corresponds to ATM in Drosophila; however, it appears that mei-41 is probably the ATR ortholog. Unlike mei-41 mutants, flies deficient for the true ATM ortholog, dATM, die as pupae or eclose with eye and wing abnormalities. Developing larval discs exhibit substantially increased spontaneous chromosomal telomere fusions and p53-dependent apoptosis. These developmental phenotypes are unique to dATM, and both dATM ...
A telangiectasis refers to a visibly dilated blood vessel on the skin or mucosal surface. Telangiectases that develop in the absence of any preceding or coexisting cutaneous or systemic disease are considered to be primary or essential.
There are several classifications of idiopathic (of an unknown cause) juxtafoveal telangiectasis (JFT), but the most common one divides JFT into Types 1, 2 and 3. Types 1 and 3 are rare-the vast majority of patients with JFT have Type 2.. JFT occurs when tiny abnormal blood vessels (or telangiectasias-pronounced tell an gec TAY shuhs) occur in the fovea. Telangiectasias are blood vessels that branch abnormally and may leak fluid or blood into the retina, which is the portion of the eye that house photoreceptor cells that detect light. (Figure 1).. Strangely, many patients with JFT do not have detectable telangiectasias in their retina, only evidence of the retinal damage caused by these abnormal blood vessels.. Although we dont know what causes JFT Type 2, we do know that it:. ...
Mood Disorders - These kind of illnesses are also influential on the human genetic disorder with symptoms unique to the human genetic disorder and to encourage the human genetic disorder in anorexia nervosa. Consciousness management and the human genetic disorder can aggravate symptoms of anxiety disorder. These conditions affect peoples lives on a constant rise, the global scientific community is started to become alarmed. Statistics show that although the what genetic disorder of patients with orthorexia nervosa do the human genetic disorder like planning the human genetic disorder next one will strike. These attacks may be that teaching a child to pass through their childhood without appropriate treatment sentences them to a body weight leaner than needed for health is highly promoted by current fashion trends, sales campaigns for special foods, and in some professionals views, is that we are potentially missing children who have a public disaster on our hands. Treatment of children parents ...
Genomic DNA-Sch also leads to increased FITTINGS expression of RAE Fittings 1, MULT 1, 3 and ULBP1 mica and RAE 1-induction by the action of ataxia telangiectasia mutated and ataxia and Kinase1 Engined Rad3 and SNA and checkpoints Telangiectasia of the effector. Above was tzlich addition reported that decide Myc c RAE first level of transcription. , Is a post-transcriptional expression of MICA and MICB is the cellular expression Rer microRNAs Re Re MICB locked also be inhibited by viral microRNAs. After all, the expression of MULT 1 is regulated Translation Email ubiquitination. Effect of NKG2D ligand expression on NK cell activity of t TT in vitro and in vivo, was best described by a NKG2D ligand RAE M Identifies usefamilie. Cells that do not express NKG2D ligands are usually very sensitive to NK lysis transduced in vitro with RAE RAE whether ectopic expression in tumor cells results first distance efficient tumor cells in vivo cellmediated subcutaneously after the transfer ...
Researchers at the Fred Hutchinson Cancer Research Center in Seattle looked at fibroblast cell to see how they were responding to chemotherapy treatments. They discovered that the chemotherapy is damaging the DNA which causes the fibroblasts to produce up to 30 times more "WNT16B" protein. This protein fuels cancer cell growth while it invades surrounding tissues helping the cancer cell to resist chemotherapy. The only thing that can effectively kill cancer is your bodies own immune system which you can supercharge with foods and herbs instead of killing it with chemo and radiation ...
5178 Low-dose hyper-radiosensitivity (HRS) describes the increased radiosensitivity of cells to doses of ionizing radiation less than ∼0.5 Gy. While a complete understanding of the underlying molecular mechanism of this radiation response is not clear, our recent work has identified a connection between low-dose HRS survival, Ataxia Telangiectasia Mutated (ATM)-mediated repair pathways and an "early" ATM-dependent G2 cell-cycle checkpoint. High-precision cell survival experiments using flow cytometry synchronized cell populations indicated that HRS was a specific G2 phase response. Given this background, we investigated the function of radiation-induced G2 phase checkpoint arrest in a pair of isogenic fibroblast cell lines: MR4 and 3.7. We found that the MR4 cells exhibited a pronounced HRS cell survival response that was exaggerated in a G2-phase enriched cell population but was absent in the isogenic 3.7 cell line. Moreover, distinct temporal differences in G2 checkpoint response were ...
In this issue of Clinical Cancer Research, Saiya-Cork and colleagues used integrative genomic profiling to identify that the insulin receptor (INSR) is significantly overexpressed in about 25% of chronic lymphocytic leukemias (CLL), many of which carry deletion 11q (1). Deletion 11q has been associated with marked lymphadenopathy and rapid disease progression in CLL, leading to short overall survival (2, 3). At diagnosis or initiation of first therapy, deletion 11q is the most common high-risk abnormality in CLL. Although the molecular pathogenesis of CLL with each characteristic chromosome abnormality is being intensively studied, much remains to be understood. Most interest in 11q deletion has focused on loss of the ataxia telangiectasia mutated (ATM) gene, a well-known tumor suppressor gene involved in cell cycle checkpoint signaling and DNA repair. Because 11q deletion generally only affects one of the two chromosomes, the other ATM allele would be expected to be mutated if ATM is a key ...
Telangiectases are enlarged blood vessels that occur in all parts of the body and can be treated with laser surgery at the Laser Skin Surgery Center of New York.
AstraZeneca is developing AZD 1390, an ATM kinase inhibitor and blood-brain-barrier (BBB) penetrant, for the treatment of cancer. Ataxia telangiectasia mutated
Addressing Neurological Dysfunction in Ataxia Telangiectasia: Investigation into Novel, Physiologic ATM Activation in Neurons and ATM-PP1 Signaling in Reorganization and Refinement of Post Synaptic Architecture (Post-doctoral Fellowship Award) ...
In a study published online Sunday in the September issue of Nature Medicine, scientists describe how they developed and tested a new way to isolate cells from patient samples and analyze them to help predict outcomes after severe trauma. The technology, called a microfluidic cassette, allows precise analysis of very small volumes of fluids and can be used to study patients genes and proteins.. "Whats so powerful about this technique is that you can isolate any cell population quickly and efficiently at the bedside," said Lyle L. Moldawer, a professor and vice chairman of research in the UF College of Medicines department of surgery. "In this case we isolated blood neutrophils, but weve also isolated T cells, mixed leukocytes, monocytes. Theoretically, you can isolate any cell population, under any disease, and rapidly get nucleic acids to produce a genomic signature.". Knowing the genomic signature of a cell population can help doctors diagnose diseases and may allow them to predict how ...
Brad Paisley has recorded a new song, Hard Life, written by his friend Joe Kindregan, a 23-year-old battling A-T (ataxia-telangiectasia).
LAMINATED. A visual guide to the human genome. Provides a detailed view of all 23 human chromosome pairs and the location of the genes which cause the most common genetic disorders …
Meet Sam Miller of Dallas. He suffers from an incurable disease and may soon need a new kidney to survive. A blood relative could provide one. CBS 2s Mike Parker reports.
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Looking for online definition of telangiectasia lymphatica in the Medical Dictionary? telangiectasia lymphatica explanation free. What is telangiectasia lymphatica? Meaning of telangiectasia lymphatica medical term. What does telangiectasia lymphatica mean?
The circadian control of an organisms response to DNA damage response rests upon circadian proteins which play important roles in the processes of cell proliferation and control of response to genotoxic stress both at the cellular and organismal levels [83]. DNA damage triggers cellular stress response pathways which may result in checkpoint cell cycle arrest, apoptosis or DNA repair. DNA damage leads to activation of critical components of cellular stress response pathways including ATM/ATR (ataxia telangiectasia mutated/ataxia telangiectasia and Rad3-related) and CHK1/2 (checkpoint kinase1/2) which in turn activates tumour suppressor protein p53 and subsequently causes cell cycle arrest or apoptosis [84]. It has been shown that Bmal1-deficient human cells are unable to undergo growth arrest on p53 activation by DNA damage. Contrary to in vivo mouse data connecting BMAL1-dependent delay in G1 progression to upregulation of p21 [82], radiation induced growth arrest in Bmal1-deficient human ...
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Monies et al. (2017) discussed the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 8-year-old female, presented with psychomotor retardation, seizure disorder and Angelman syndrome. Whole exome sequencing helped identify a heterozygous mutation (c.3644C,T, p.S1215L) in exon 17 of the patients NPAT gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant predicted to be deleterious, the NPAT gene had a low %HI score in DECIPHER and it encoded a protein involved in chromatin remodeling, a mechanism commonly affected in neurodevelopmental disorders. The authors noted that further studies are required to confirm this association. ...
Telangiectasis is dilated capillaries on skin. Ayurveda is best for this problem.Dr. Amit Dutta Skin Specialist Ayurveda has treated many complicated disorders with merely Ayurveda.
Sigma-Aldrich offers abstracts and full-text articles by [Kenta Yamamoto, Jiguang Wang, Lisa Sprinzen, Jun Xu, Christopher J Haddock, Chen Li, Brian J Lee, Denis G Loredan, Wenxia Jiang, Alessandro Vindigni, Dong Wang, Raul Rabadan, Shan Zha].
When you submit a sample for genetic analysis you are not just making a decision for yourself.. You are also making a decision for all of your children, their offspring and all of your ancestors, your brothers and your sisters and their offspring.. In fact, youre making a decision for everybody that is a blood relative.. With the number of bits present in a typical genetic sample this is still more than sufficient to identify people that have not consented (or that might not even exist yet, or any more) to having their genetic data analyzed if you did not submit your sample in an anonymous way. And even that has its limits, after all, your genes are your identity. They identify you with much more precision than any other piece of information. Effectively, you cant anonymize genetic data at all.. The typical privacy policy of companies that analyze genetic samples apply to the person whose data is being sampled, but not to any conclusions drawn from that data affecting others.. There are many ...
Post Mortem examinations are vital for medical research and training, not only for doctors, but for everyone in the medical field and also associated fields i.e. dietary, but also for statistical purposes and financial planning for the health services. They can also be important for blood relatives of the deceased person so see if it has any implications for their health, and, in the case of newborns / babies, for planning future children in case of inherited medical conditions ...
Post Mortem examinations are vital for medical research and training, not only for doctors, but for everyone in the medical field and also associated fields i.e. dietary, but also for statistical purposes and financial planning for the health services. They can also be important for blood relatives of the deceased person so see if it has any implications for their health, and, in the case of newborns / babies, for planning future children in case of inherited medical conditions ...
This is true on any weight loss or health journey. The barriers seem so astronomically high we cannot get around, under, over or through them. Problem is, if we are really interested in entering into all that God wants for us, we have to find away to remove the walls.. There are many such barriers. For me, the most overwhelming were Cultural, Psychological and Genetic.. My cultural barrier included comfort food, the food I was raised eating. It was environmental in that my grandmas wonderful country cooking was what I lived for. It comforted me in every way possible. It soothed any pain and helped celebrate any occasion.. Barrier number one: How could I ever give that up?. The psychological barrier began to be established early in my life especially in regard to men who were less than gentlemanly with me. These were not blood relatives, but included a close friend of the family, a couple of neighborhood boys and an insane teenage boy. The emotional barriers that caused were huge as I tried to ...
Or simply, you may wish to shed a tear after watching a blood relative losing an argument with a bailing machine, whilst gazing on in wonder at how they manage to fit that astonishing volume of internal organs into such a relatively small space. Your call, even if, as experts in the manly arts agree, crying is the wrong reaction in this instance. A real man should be exacting bloody revenge on the tractor driver at this stage (for example, by force feeding him his own offal), before retiring to the lingerie department of Marks and Spencers to check current stock levels according to the Duckworth-Lewis scoring method ...
Researchers at the Institute Of Cancer Research have discovered a new breast cancer gene which increases the risk of developing the disease.
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Results Inter-individual variation was demonstrated with a 2.6-fold difference (p,0.001) in the highest activity for an AT patient (110.5±11.6%) and the lowest activity for an asymptomatic subject (42.8±8.6%). In addition, an overall significantly higher activity (87.5±14.3% vs 67.6±20.0%, p,0.001) was observed for the clones from the AT patients. Two major forms of the COL5A1 3′-UTR were identified when all the cloned 3′-UTRs were sequenced. One form (WT-allele) was predominantly identified in the controls, while the second form (TEN-allele) was predominately identified in AT subjects. The luciferase activity of the WT-allele was also significantly lower than the TEN-allele (68.3±24.9% vs 86.0±18.5%, p=0.007).. ...
Very few online resources aimed at patients who wish to learn about an emergency radiology exam are comprehensible to most of that intended audience, according to a study published online in Emergency Radiology.
Desordem caracterizada por atrofia cutânea e perda de gordura subcutânea iniciando ao nascimento ou pouco tempo depois. As extremidades distais são principalmente afetadas, porém as alterações podem ocorrer também na face e tronco. A pele torna-se seca, fina, transparente e enrugada, e pode ocorrer machucados fáceis e telangiectasia. A falta de gordura subcutânea acentua a aparência de senilidade prematura. Cabelo e olhos são normais. Não há tendência para ateroma e diabetes mellitus, e a expectativa de vida é normal.. ...
TY - JOUR. T1 - Evidence that unrejoined DNA double-strand breaks are not predominantly responsible for chromosomal radiosensitivity of AT fibroblasts. AU - Loucas, Bradford. AU - Cornforth, Michael. PY - 2004/11. Y1 - 2004/11. N2 - To examine more fully the nature of chromosomal radiosensitivity in ataxia telangiectasia (AT) cells, we employed 24-color combinatorial painting to visualize 137CS γ-ray-induced chromosome-type aberrations in cells of two AT and one normal primary human fibroblast strains irradiated in log-phase growth. As a measure of misrejoined radiation-induced DSBs, we quantified exchange breakpoints associated with both simple and complex exchanges. As a measure of unrejoined DSBs, we quantified breakpoints from terminal deletions as well as deletions associated with incomplete exchange. For each of these end points, the frequency of damage per unit dose was markedly higher in AT cells compared to normal cells, although the proportion of total breaks that remained unrejoined ...
Meelis Kadaja, CSO of Icosagen Cell Factory will present QMCF Technology in a talk "CHO-based customized protein production technology" at the Cell Line Development and Engineering conference in Vienna. The talk will be held on February 10th, 2014 during the stream Transient Expression Systems. ...
It has been shown that hRAD1, hRAD9, and hHUS1 form PCNA-like ring structures (15, 16). Both of the damage sensor complexes presumably use this type of ring-like structures to encircle the DNA and then slide down the cells genome while scanning for irregularities. There is supposed to be redundancy between these two sensor complexes for sensing DNA damage, and there also seems to be some interplay between ATM and ATR, and CHK1 and CHK2, although these activities are not absolutely complementary. The sensor proteins are also involved in the process of initiating damage repair (budding yeast RAD9 protein is an exception) so targeting this machinery indiscriminately may harm normal cells by increasing the mutational rate. Data supporting this notion are that the tumor prone phenotypes of Ataxia telangiectasia, Nijmegen breakage syndrome, and hereditary mammary carcinoma patients have mutations in ATM, NBS1, and BRCA1, respectively (12).. The sensor complexes can also communicate with PCNA, hMLH1, ...
Telangiectasias (aka spider veins, varicose veins, thread veins) are blood vessels typically less than 2mm in diameter and can be either blue (de-oxy) or red (oxy) in color.
2016. Farmer, AJ, Rodgers, LR, Lonergan, M, Shields, B, Weedon, MN, Donnelly, L, Holman, RR, Pearson, ER & Hattersley, AT 2016, Adherence to oral glucose-lowering therapies and associations with 1-year HbA1c: A retrospective cohort analysis in a large primary care database Diabetes Care, vol 39, no. 2, pp. 258-263. DOI: 10.2337/dc15-1194. McCreight, LJ, Bailey, CJ & Pearson, ER 2016, Metformin and the gastrointestinal tract Diabetologia, vol 59, no. 3, pp. 426-435. DOI: 10.1007/s00125-015-3844-9. Connelly, PJ, Smith, N, Chadwick, R, Exley, AR, Shneerson, JM & Pearson, ER 2016, Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance Diabetic Medicine, vol 33, no. 3, pp. 371-375. DOI: 10.1111/dme.13037. Dujic, T, Causevic, A, Bego, T, Malenica, M, Velija-Asimi, Z, Pearson, ER & Semiz, S 2016, Organic cation transporter 1 variants and gastrointestinal side effects of ...
BioAssay record AID 493218 submitted by NCGC: Immunofluorescence assay for KAP-1 phosphorylation on Ser824 for Identifying a Potential Treatment of Ataxia-Telangiectasia: Hit Validation.
Linkage of at least two complementation groups of ataxia-telangiectasia (AT) to the chromosomal region 11q23 is now well established. We provide here an 18-point map of the surrounding genomic region, derived from linkage analysis of 40 CEPH families. On the basis of this map, 111 AT families from Turkey, Israel, England, Italy, and the United States were analyzed, localizing the AT gene(s) to an 8-cM sex-averaged interval between the markers STMY and D11S132/NCAM. A new Monte Carlo method for computing approximate location scores estimates this location as being at least 10(8) times more likely than the next most likely interval, with a support interval midway between STMY and D11S132 that is either 5 ...
The views expressed by the author on this website do not necessarily reflect the views of this website, those who link to this website, the authors mother, father, sister, brother, uncle, aunt, grandparents, cousins, step relations, any other blood relative and the author himself, this websites web host…. Comments on this website are the sole responsibility of their writers and the writer will take full responsibility, liability, and blame for any libel or litigation that results from something written in or as a direct result of something written in a comment. The accuracy, completeness, veracity, honesty, exactitude, factuality and politeness of comments are not guaranteed.. …Although it may claim otherwise, this website does not offer legal, medical, psychiatric, veterinary, gynecological, archaeological, astronomical, astrological, ontological, paleontological, philosophical, axiological, audiological, bacteriological, mineralogical, criminological, terminological, dermatological, ...
Literally hundreds of blood relatives, and relatives by marriage descended into the suburb, and the younger daughter-in-law, was allocated the chauffeuring job, of transporting elderly types from home to clinic and back, along with assorted lunch dabbas, dinners and tiffins for the patient. The patient, despite a traumatised lens area, was in her absolute element , instructing people about how cooking oil at home needed to be replenished, how you couldnt buy it on a Saturday , and how someone needed to rush in the middle of everything to someplace to order and have it delivered. The younger daughter-in-law would often wear jeans and kurtas to the complete consternation of some disapproving elder ladies , who had no clue about clutches, accelerators, and the possibility of entangling your feet in saree pleats , while driving a bunch of loudly talkative folks back and forth on one of Mumbais arterial high traffic roads ...
19/02/20: Katholieke Universiteit Nijmegen: Profil acad mique, opinions et t moignages d tudiants internationaux... Ponctuations: tudes: 4.0/5, Langues trang res: 4.5/5, Vie tudiante: 4.7/5, Logement: 3.9/5, Frais: 3.3/5, valuation globale: 4.6/5. Classements, Admissions, Programmes...
ATM - Atm - Mouse, 4 unique 29mer shRNA constructs in retroviral RFP vector shRNA available for purchase from OriGene - Your Gene Company.
It has been suggested that phosphorylation of the histone variant H2AX after ultraviolet light (UV) irradiation is triggered by DNA double-strand breaks induced as replication forks collide with UV-induced bulky lesions. More recently, it has been shown that UV-induced H2AX phosphorylation can also occur outside of S-phase, but the mechanism for this replication-independent induction is not well understood. In this study, we show that H2AX phosphorylation after UV irradiation is triggered by DNA repair intermediates and is induced in all phases of the cell cycle. Accumulation of DNA repair intermediates by inhibition of DNA repair synthesis resulted in a marked increase of H2AX phosphorylation in repair proficient but not repair-deficient xeroderma pigmentosum-A cells. Using chemical inhibitors of the PI(3)-like kinase family of protein kinases as well as ataxia telangiectasia mutated and Rad-3 related (ATR)-deficient Seckel syndrome cells and ataxia telangiectasia mutated-deficient ataxia ...
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and an increased susceptibility to malignancies. This study was designed to study the role of proapoptotic BAK, BAX, and NBK/BIK genes in a group of patients with AT to elucidate the possible role of these genes in progression of malignancies in this disease. Fifty Iranian patients with AT were investigated in this study. The entire coding regions of the BAK gene (exons 2-6), NBK/BIK gene (exons 2-5), and BAX gene (exons 1-7) were amplified using polymerase chain reaction (PCR). The PCR products were separated by 2% agarose gel electrophoresis, and all positive samples were verified by direct sequencing of PCR products using the same primers used for PCR amplification, BigDye chemistry, and Avent 3100 Genetic Analyzer following the manufacturers instructions (Applied Biosystems). Eight of fifty Iranian AT patients (16%)
The role of deubiquitylase ubiquitin-specific protease 7 (USP7) in the regulation of the p53-dependent DNA damage response (DDR) pathway is well established. Whereas previous studies have mostly focused on the mechanisms underlying how USP7 directly controls p53 stability, we recently showed that USP7 modulates the stability of the DNA damage responsive E3 ubiquitin ligase RAD18. This suggests that targeting USP7 may have therapeutic potential even in tumors with defective p53 or ibrutinib resistance. To test this hypothesis, we studied the effect of USP7 inhibition in chronic lymphocytic leukemia (CLL) where the ataxia telangiectasia mutated (ATM)-p53 pathway is inactivated with relatively high frequency, leading to treatment resistance and poor clinical outcome ...
Read about the journeys of our patients with Spider Telangiectasias from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Learn more about Spider Telangiectasias treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Cells avoid the disastrous effects of DNA damage by activating a checkpoint mechanism to prevent proliferation of cells that contain damaged DNA. The protein kinase ATM is an important component of this signaling mechanism, but precisely how its activity is regulated has not been clear. The protein Nbs1, which is mutated in the human disorder Nijmegen breakage syndrome, forms MRN complexes with two other proteins that participate in DNA repair, Mre11 and Rad50 (Mre11-Rad50-Nbs1, hence, MRN). Nbs is also a substrate for ATM. But now, Lee and Paull suggest that the interaction between Nbs1 and ATM is more complicated. MRN complexes directly activate enzymatic activity of ATM, possibly by causing a conformational change in ATM that alters the affinity of the kinase toward its substrates.. J.-H. Lee, T. T. Paull, Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science 304, 93-96 (2004). [Abstract] [Full Text]. ...
Dr. Autexier explained that many characteristics of natural aging in humans are related to a decline in processes that require continuous cell renewal, or to defective safeguard mechanisms that prevent the occurrence and survival of cells with genomic abnormalities. These include declines in immune and bone marrow functions, skin thickness changes, reduced wound healing capacity, structural changes in epithelial tissues, loss of fertility, and increased incidence of cancer. Research now suggests that loss of telomere integrity is one of the key mechanisms that drive the aging and age-related pathologies.. Dr. Autexier described that premature human aging syndromes, such as Ataxia Telangiectasia, Werner Syndrome, and Dyskeratosis congenita (DKC), share phenotypic similarities with the normal aging process, such as cataracts, osteoporosis, hair graying, and neurodegeneration.5 These syndromes are associated with defects in genes implicated in the maintenance of genomic and telomeric ...
The maize plants have been edited using the CRISPR/Cas9 system resulting in the mutation of either the ATR or ATM gene. There are three events: one event with one additional DNA basepair in the ATR gene, one event with one additional DNA basepair in the ATM gene and one event with a 1272 bp deletion in the ATR gene. The result of these alterations is that these genes are no longer functional. The ATR and ATM genes gene plays a role in the repair of DNA damage and in these plants faults in the DNA are believed to accumulate to a higher degree.. ...
Ataxia What is ataxia? The word ataxia comes from the Greek word a taxis, which means without order or without coordination. Thus, ataxia means without coordination. Persons who are diagnosed with ataxia experience a failure of muscle control in their arms and legs which may result in a lack of balance, coordination, and possibly a disturbance in gait. Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements. The word ataxia is often used to describe the incoordinatio...
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When I landed in Honolulu, Hawaii to attend the Asian Adult Adoptee Gathering & Film Festival in October 2008, my first thought was that I wanted to see the beach. I like to think that when I was born a tropical hormone was injected into my blood stream, making me pine for salty water and cracked coconuts. When the #19 bus to the hotel district arrived, I heaved my two full backpacks onto my back and walked into the air conditioned cabin. Luckily, I got a window seat, so I could stare out at the scenery and take in everything I saw. As the bus wound through its elongated route, I marveled at the various people who boarded and exited the bus. I have a bad habit of staring, but hopefully I wasnt too conspicuous when I watched the many faces of Hawaii standing, or sitting, before me. Old and young, men and women, shuffled by and an odd feeling crept up behind my eyes making me suddenly wonder if I could very well be looking at one of my own blood relatives ...
Telangiectasia hemorrágica hereditária - Wikipédia, a ....A telangiectasia hemorrágica hereditária (ou Síndrome de Rendu-Osler-Weber) é uma doença autossómica dominante. [1] Pensa-se serem dois os genes envolvidos: ENG ...--Síndrome de Osler-Weber-Rendu - pt.healthline.com.Osler-Weber-Rendu syndrome (OWR) is also known as hereditary hemorrhagic telangiectasia (HHT). It is a genetic blood vessel disorder that often leads to excessive ...--Rendu-Osler-Weber Disease: clinical and surgical treatment.SUMMARY. Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber disease) is a rare disease with and incidence of 1-2/100000, affecting blood vessels of the skin ...--Rendu-Osler-Weber Syndrome: case report and literature review.RESUMO. A telangiectasia Hemorrágica Hereditária ou Síndrome de Rendu-Osler-Weber é uma rara displasia fibrovascular que torna a parede vascular vulnerável a ...--Radiologia Brasileira - Síndrome de Rendu-Osler-Weber: o ....INTRODUÇÃO A síndrome de ...
Ataxia telangiectasia is inherited as an autosomal recessive trait with an incidence of one in 20000 to 100000 births. The disease was first named and recognized widely in a report of eight cases by Boder and Sedgwick (4). Diagnosis of the disease is made from a constellation of characteristic features, including cerebellar ataxia, oculomotor abnormalities, ocular and cutaneous telangiectasias, and immunoglobulin A, immunoglobulin E, or immunoglobulin G2 immunodeficiency, with susceptibility to sinonasal and pulmonary infections and lymphoreticular malignancies (5-8). The most commonly associated neoplasms are non-Hodgkins lymphoma, acute lymphocytic leukemias, Hodgkins lymphoma, and later, in young adulthood, solid tumors including breast carcinoma, gastric carcinoma, medulloblastoma, basal cell carcinoma, ovarian dysgerminoma, and hepatoma (6, 9). Patients also experience increased sensitivity to ionizing radiation, often have elevated serum α-fetoprotein levels, and may develop progeric ...
Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence. Here we present an incidental finding. Skin fibroblasts, derived from a 9 year old NBS patient, showed a mosaic of normal diploid cells (46,XY) and those with a complex, unbalanced translocation. The aberrant karyotype was analysed by G-banding, comparative genomic hybridization, and whole chromosome painting. The exact breakpoints of the derivative chromosome were mapped by whole genome sequencing: 45,XY,der(6)(6pter → 6q11.1::13q11 → 13q21.33::20q11.22 → 20qter),-13.
Looking for Hereditary haemorrhagic telangiectasia? Find out information about Hereditary haemorrhagic telangiectasia. An inherited disease characterized by dilatation of groups of capillaries and a tendency to hemorrhage. Also known as Osler-Rendu-Weber disease Explanation of Hereditary haemorrhagic telangiectasia

Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts<...Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts<...

Li Y, Carty MP, Oakley GG, Seidman MM, Medvedovic M, Dixon K. Expression of ATM in ataxia telangiectasia fibroblasts rescues ... Li, Y, Carty, MP, Oakley, GG, Seidman, MM, Medvedovic, M & Dixon, K 2001, Expression of ATM in ataxia telangiectasia ... Ataxia telangiectasia (A-T) is a human genetic disorder characterized by progressive cerebellar degeneration, hypersensitivity ... abstract = "Ataxia telangiectasia (A-T) is a human genetic disorder characterized by progressive cerebellar degeneration, ...
more infohttps://nebraska.pure.elsevier.com/en/publications/expression-of-atm-in-ataxia-telangiectasia-fibroblasts-rescues-de

c-Abl-mediated tyrosine phosphorylation of JunB is required for Adriamycin-induced expression of p21 | Biochemical Journalc-Abl-mediated tyrosine phosphorylation of JunB is required for Adriamycin-induced expression of p21 | Biochemical Journal

ataxia telangiectasia mutated; CA, constitutively active; Chk2, checkpoint kinase 2; CHX, cycloheximide; CMV, cytomegalovirus; ...
more infohttp://www.biochemj.org/content/471/1/67

Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)

Ataxia-telangiectasia (A-T) is a progressive neurodegenerative disorder with prominent eye movement deficits localizing to the ... Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. Shaikh, Aasef; Marti, Sarah; ... The article describes the case of a 16-year-old boy who had molar tooth sign with ataxia and see-saw nystagmus, a condition ... Summary: Episodic ataxia type 2 (EA 2) is a rare neurological disorder of autosomal dominant inheritance resulting from ...
more infohttp://connection.ebscohost.com/c/articles/11352993/vestibulo-ocular-arreflexia-families-spinocerebellar-ataxia-type-3-machado-joseph-disease

Hereditary Hemorrhagic TelangiectasiaHereditary Hemorrhagic Telangiectasia

Ataxia-Telangiectasia Ataxia-Telangiectasia is an inherited disease that affects both nervous and immune system. Cerebellum... ... Hereditary Hemorrhagic Telangiectasia. Hereditary Hemorrhagic Telangiectasia , also known as the Rendu Osler Weber disease, is ... No certain treatment for Hereditary Hemorrhagic Telangiectasia exists, but bleeding may be stopped by applying compress or ... Bleeding most likely to recur, causing iron deficiency anemia; individuals with Hereditary Hemorrhagic Telangiectasia require ...
more infohttp://www.unitedhealthdirectory.com/diseases-and-conditions/hereditary-hemorrhagic-telangiectasia/

Hereditary cerebellar ataxia | Define Hereditary cerebellar ataxia at Dictionary.comHereditary cerebellar ataxia | Define Hereditary cerebellar ataxia at Dictionary.com

Hereditary cerebellar ataxia definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and ... hereditary cerebellar ataxia * hereditary cerebral leukodystrophy * hereditary chorea * hereditary hemorrhagic telangiectasia * ... hereditary cerebellar ataxia in Medicine Expand. hereditary cerebellar ataxia n. A disease of later childhood and early adult ...
more infohttp://www.dictionary.com/browse/hereditary-cerebellar-ataxia?qsrc=2446

Ataxia-telangiectasia - WikipediaAtaxia-telangiectasia - Wikipedia

Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... These include: Ataxia oculomotor apraxia type 1 (AOA1) Ataxia oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia ... Most often the ataxia appears between 10 and 15 years of age, and differs from A-T by the absence of telangiectasia and ... Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be ...
more infohttps://en.wikipedia.org/wiki/Ataxia-telangiectasia

Ataxia-Telangiectasia | Cancer.NetAtaxia-Telangiectasia | Cancer.Net

Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty ... Children with A-T may begin staggering and appear unsteady (called ataxia) shortly after learning to walk. Most ... What is Ataxia-Telangiectasia?. Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic ... The gene associated with A-T is ATM, meaning ataxia telangiectasia mutated. Mutations (changes) in the ATM gene cause A-T. ...
more infohttps://www.cancer.net/cancer-types/ataxia-telangiectasia

Ataxia telangiectasia and Rad3 related - WikipediaAtaxia telangiectasia and Rad3 related - Wikipedia

Ataxia telangiectasia and Rad3 related has been shown to interact with: BRCA1, CHD4, HDAC2, MSH2, P53 RAD17, and RHEB. GRCh38: ... Gatei M, Zhou BB, Hobson K, Scott S, Young D, Khanna KK (May 2001). "Ataxia telangiectasia mutated (ATM) kinase and ATM and ... Serine/threonine-protein kinase ATR also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein ... Chen J (Sep 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following ...
more infohttps://en.wikipedia.org/wiki/Ataxia_telangiectasia_and_Rad3_related

Ocular manifestations of ataxia-telangiectasia.  - PubMed - NCBIOcular manifestations of ataxia-telangiectasia. - PubMed - NCBI

Ocular manifestations of ataxia-telangiectasia.. Farr AK1, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX. ... To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/12470759?dopt=Abstract

Ataxia Telangiectasia and Rad3-Related (ATR) | SpringerLinkAtaxia Telangiectasia and Rad3-Related (ATR) | SpringerLink

... cutaneous telangiectasia and cancer syndrome, familial); FRP1 (FRAP-related protein-1); MEC1 (mitosis entry checkpoint 1); ... Ataxia Telangiectasia Mutate Replication Stress Origin Firing Stall Replication Fork Heat Repeat These keywords were added by ... Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on ... Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase 1 DNA damage response axis in colon cancers. Genes ...
more infohttps://link.springer.com/referenceworkentry/10.1007/978-1-4614-6438-9_101789-1

Ataxia telangiectasia syndrome definition | Drugs.comAtaxia telangiectasia syndrome definition | Drugs.com

Definition of ataxia telangiectasia syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ...
more infohttps://www.drugs.com/dict/ataxia-telangiectasia-syndrome.html

AT - Ataxia-Telangiectasia | AcronymFinderAT - Ataxia-Telangiectasia | AcronymFinder

AT stands for Ataxia-Telangiectasia. AT is defined as Ataxia-Telangiectasia very frequently. ... DIAGNOSIS Ataxia-telangiectasia DISCUSSION Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is a hereditary ... Eighth International Workshop on Ataxia-Telangiectasia (ATW8).. Ataxia telangiectasia and secondary diseases/Ataksi ... Comparison of ataxia-telangiectasia mutated protein expression in .... These conditions include molluscum, ataxia- ...
more infohttps://www.acronymfinder.com/Ataxia_Telangiectasia-

Ataxia Telangiectasia | AT | MedlinePlusAtaxia Telangiectasia | AT | MedlinePlus

Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune ... About Ataxia-Telangiectasia (Ataxia-Telangiectasia Childrens Project) * Ataxia - telangiectasia (Medical Encyclopedia) Also in ... Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) * National Institute of Neurological Disorders ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems ...
more infohttps://medlineplus.gov/ataxiatelangiectasia.html

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				Abstract for Reference
			
		
		11 of Ataxia-telangiectasiaMedline ® Abstract for Reference 11 of 'Ataxia-telangiectasia'

Ataxia telangiectasia (AT) is a rare human autosomal recessive disorder with pleiotropic phenotypes, including neuronal ... Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. ...
more infohttp://www.uptodate.com/contents/ataxia-telangiectasia/abstract/11

Medline ®
		
			
			
				Abstract for Reference
			
		
		90 of Ataxia-telangiectasiaMedline ® Abstract for Reference 90 of 'Ataxia-telangiectasia'

The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely ... Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and ... We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both ...
more infohttp://www.uptodate.com/contents/ataxia-telangiectasia/abstract/90

Ataxia-Telangiectasia | Immune Deficiency FoundationAtaxia-Telangiectasia | Immune Deficiency Foundation

People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew-shaped blood ... vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin; immunodeficiency involving both humoral (B ... Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. ... Diagnosis of Ataxia-Telangiectasia. The diagnosis of A-T is usually based on common clinical features (ataxia, telangiectasia, ...
more infohttps://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/ataxia-telangiectasia/

Pleiotropic defects in ataxia-telangiectasia protein-deficient mice | PNASPleiotropic defects in ataxia-telangiectasia protein-deficient mice | PNAS

Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice Message Subject (Your Name) has sent you a message from ...
more infohttps://www.pnas.org/content/93/23/13084?ijkey=409b0c31a970a875655102016eed1a2ae9f7ad82&keytype2=tf_ipsecsha

Ataxia Telangiectasia - NORD (National Organization for Rare Disorders)Ataxia Telangiectasia - NORD (National Organization for Rare Disorders)

There are many forms of ataxia. Some ataxias are hereditary, some have other causes and sometimes ataxia can be a symptom of ... for treatment of ataxia telangiectasia and other inherited forms of ataxia are underway. For additional information, physicians ... Ataxia telangiectasia usually begins during infancy (between one and three years of age) and often affects more than one child ... Ataxia telangiectasia is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received ...
more infohttps://rarediseases.org/rare-diseases/ataxia-telangiectasia/

WikiGenes - Ataxia TelangiectasiaWikiGenes - Ataxia Telangiectasia

It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia ... Anatomical context of Ataxia Telangiectasia. *ATM, the gene that is mutated in ataxia-telangiectasia, is associated with ... Chemical compound and disease context of Ataxia Telangiectasia. *Relationship of the ataxia-telangiectasia protein ATM to ... Biological context of Ataxia Telangiectasia. *ATM deficiency causes the genetic disorder ataxia-telangiectasia (A-T), ...
more infohttps://www.wikigenes.org/e/mesh/e/6270.html

The most insightful stories about Ataxia Telangiectasia - MediumThe most insightful stories about Ataxia Telangiectasia - Medium

Discover smart, unique perspectives on Ataxia Telangiectasia and the topics that matter most to you like care coordination, ... Read stories about Ataxia Telangiectasia on Medium. ...
more infohttps://medium.com/tag/ataxia-telangiectasia

Ataxia Telangiectasia (A-T) | Johns Hopkins Medicine Health LibraryAtaxia Telangiectasia (A-T) | Johns Hopkins Medicine Health Library

Ataxia telangiectasia is a rare childhood disease that affects the nervous system and other body systems. ... What is ataxia telangiectasia?. Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and ...
more infohttps://www.hopkinsmedicine.org/healthlibrary/conditions/adult/breast_health/ataxia_telangiectasia_a-t_85,P08142

Ataxia-Telangiectasia in Ophthalmology Clinical Presentation: History, Physical, CausesAtaxia-Telangiectasia in Ophthalmology Clinical Presentation: History, Physical, Causes

... is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and ... in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re... ... Ataxia-telangiectasia is inherited as autosomal recessive. Ataxia-telangiectasia is caused by mutations in the ATM (ataxia ... encoded search term (Ataxia-Telangiectasia%20in%20Ophthalmology) and Ataxia-Telangiectasia in Ophthalmology What to Read Next ...
more infohttps://emedicine.medscape.com/article/1219140-clinical

Unusual features in the inheritance of ataxia telangiectasia | SpringerLinkUnusual features in the inheritance of ataxia telangiectasia | SpringerLink

A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The ... Boder E (1985) Ataxia telangiectasia: an overview. In: Gatti RA, Swift M (eds) Ataxia telangiectasia. (Kroc foundation series, ... Swift M (1985) Genetics and epidemiology of ataxia telangiectasia.In: Gatti RA, Swift M (eds) Ataxia telangiectasia. (Kroc ... Taylor AMR (1982) Cytogenetics of ataxia telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. Wiley, ...
more infohttps://link.springer.com/article/10.1007/BF00210809

Baclofen Treatment of Ataxia Telangiectasia - Full Text View - ClinicalTrials.govBaclofen Treatment of Ataxia Telangiectasia - Full Text View - ClinicalTrials.gov

Ataxia. Cerebellar Ataxia. Telangiectasis. Ataxia Telangiectasia. Dyskinesias. Neurologic Manifestations. Nervous System ... Baclofen Treatment of Ataxia Telangiectasia. The safety and scientific validity of this study is the responsibility of the ... Genetics Home Reference related topics: VLDLR-associated cerebellar hypoplasia Ataxia-telangiectasia Autosomal recessive ... ways to measure the problems of ataxia and abnormal eye movement for future studies of medication in ataxia telangiectasia. ...
more infohttps://clinicaltrials.gov/show/NCT00640003

Ataxia-telangiectasia syndromeAtaxia-telangiectasia syndrome

G11.3 - Cerebellar ataxia with defective DNA repair. SNOMEDCT:. 68504005 - Ataxia-telangiectasia syndrome. Look For. ... Ataxia-telangiectasia syndrome. Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... Ataxia-telangiectasia syndrome - External and Internal Eye. Print Images (10) Contributors: Brandon D. Ayres MD, Christopher ... Oculocutaneous telangiectasia usually has a later onset than the ataxia, typically between ages 3-6.. For more information, see ...
more infohttps://www.visualdx.com/visualdx/diagnosis/ataxia-telangiectasia%20syndrome?moduleId=21&diagnosisId=51145
  • Hecht F, McKaw K (1982) Ataxia telangiectasia - genetics and heterogeneity. (springer.com)
  • Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. (primaryimmune.org)
  • Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems. (hopkinsmedicine.org)
  • Arlett CF, Priestley A (1985) An assessment of the radiosensitivity of ataxia telangiectasia heterozygotes. (springer.com)
  • An upcoming paper from Dr. David Wassarman (University of Wisconsin School of Medicine and Public Health) in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia . (news-medical.net)
  • This project is intended to produce a porcine model of ataxia-telangiectasia that will provide academic and industry researchers with an opportunity to better understand theconsequences of ATM dysfunction, the pathogenesis of A-T disease, and provide an improved model in which to develop and test new therapeutic strategies. (sbir.gov)
  • Children with A-T may begin staggering and appear unsteady (called ataxia) shortly after learning to walk. (cancer.net)
  • A-T is suspected whenever a child develops signs of ataxia, meaning unsteady walking. (cancer.net)
  • A common feature in ataxia-telangiectasia is the deficiency of immunoglobulin A (IgA) associated with normal or elevated levels of immunoglobulin G (IgG) and immunoglobulin M (IgM). (medscape.com)
  • The ataxia is progressive and often begins as truncal unsteadiness with limbs involved later. (arizona.edu)
  • The ataxia is caused by abnormalities in the cerebellum, a part of the brain that controls balance and movement. (primaryimmune.org)
  • Immunological abnormalities in ataxia-telangiectasia include the following: decreased peripheral lymphoid tissue, stunted growth, lymphopenia, absence of delayed hypersensitivity, impaired skin homograft rejection, impaired circulating antibody response to some (weak) antigens, and impaired T-cell function. (medscape.com)
  • The ataxia is progressive and is accompanied by loss of deep tendon reflexes, dystonia, drooling, and dysarthria. (medscape.com)
  • Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. (healthtap.com)