Ataxia telangiectasia. Medical search

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).

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.

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.

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.

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.

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.

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)

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.

A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.

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.

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)

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.

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.

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)

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.

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.

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.

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.

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.

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.

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.

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.

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.

Bleeding from the nose.

The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.

Keto-pyrans.

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.

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.

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.

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.

Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

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.

The relationship between the dose of administered radiation and the response of the organism or tissue to the radiation.

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.

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.

Complex cytotoxic antibiotic obtained from Streptomyces flocculus or S. rufochronmogenus. It is used in advanced carcinoma and causes leukopenia.

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.

Established cell cultures that have the potential to propagate indefinitely.

A family of enzymes that catalyze the conversion of ATP and a protein to ADP and a phosphoprotein.

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.

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.

The process by which a DNA molecule is duplicated.

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.

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.)

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.

An individual having different alleles at one or more loci regarding a specific character.

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.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

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.

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 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).

Compounds that inhibit cell production of DNA or RNA.

A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.

A cell line derived from cultured tumor cells.

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.

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.

Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.

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 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.

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.

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.

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.

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.

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.

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.

Proteins that specifically bind to IRON.

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.

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).

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

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.

An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.

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).

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)

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.

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.

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)

An individual in which both alleles at a given locus are identical.

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.

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.

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.

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.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

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.

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.

A characteristic symptom complex.

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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.

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.

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.

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).

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.

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.

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.

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.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

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.

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.

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)

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

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)

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)

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.

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).

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.

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.

Biochemical identification of mutational changes in a nucleotide sequence.

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.

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.

Human COLORECTAL CARCINOMA cell line.

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.

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.

A general term for various neoplastic diseases of the lymphoid tissue.

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.

Ordered rearrangement of T-cell variable gene regions coding for the antigen receptors.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

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.

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.

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.

A subclass of dual specificity phosphatases that play a role in the progression of the CELL CYCLE. They dephosphorylate and activate CYCLIN-DEPENDENT 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.

Compounds that inhibit the activity of DNA TOPOISOMERASE I.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

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.

Mapping of the KARYOTYPE of a cell.

Drugs used to potentiate the effectiveness of radiation therapy in destroying unwanted cells.

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.

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.

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.

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.

Derivatives of the steroid androstane having two double bonds at any site in any of the rings.

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.

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.

Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.

The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

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.

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.

An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.

Mice bearing mutant genes which are phenotypically expressed in the animals.

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)

The hallmark symptoms of AT are:

1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.

The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:

1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.

AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.

In the medical field, telangiectasis may be diagnosed through a physical examination and/or imaging tests such as ultrasound or MRI. Treatment options for telangiectasis depend on the underlying cause of the condition but may include topical creams or ointments, laser therapy, or lifestyle changes.

Some synonyms for telangiectasis are: spider veins, telangiectatic vessels, and spider naevi.

Note: Telangiectasis is not to be confused with telengectasis which is a condition where the blood vessels in the lung become dilated and can lead to pulmonary embolism.

People with HHT have abnormal blood vessels in their skin, mucous membranes, and organs such as the liver, spleen, and lungs. These abnormal vessels are weak and prone to bleeding, which can lead to nosebleeds, bruising, and other complications.

HHT is usually diagnosed based on a combination of clinical symptoms and genetic testing. Treatment typically involves managing symptoms with medications, lifestyle changes, and in some cases, surgery or other interventions to prevent bleeding episodes.

Some of the main symptoms of HHT include:

* Recurring nosebleeds
* Easy bruising
* Petechiae (tiny red spots on the skin)
* Purpura (larger purple spots on the skin)
* Gingival bleeding (bleeding from the gums)
* Epistaxis (nosebleeds)
* Hematuria (blood in the urine)
* Gastrointestinal bleeding

HHT is a relatively rare disorder, affecting about 1 in 5,000 to 1 in 10,000 people worldwide. It can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases may be caused by spontaneous mutations and not be inherited.

There are several types of HHT, including:

* Type 1: The most common type, characterized by recurring nosebleeds and other bleeding episodes.
* Type 2: Characterized by a milder form of the condition with fewer bleeding episodes.
* Type 3: A rare and severe form of HHT that is often associated with other medical conditions such as liver disease or pulmonary hypertension.

HHT can be diagnosed based on clinical findings and laboratory tests, including:

* Physical examination: To look for signs of bleeding and to assess the size and shape of the nose and ears.
* Imaging studies: Such as CT or MRI scans to evaluate the nasal passages and sinuses.
* Blood tests: To check for abnormalities in blood clotting and platelet function.
* Genetic testing: To identify mutations in the genes associated with HHT.

Treatment for HHT is focused on managing symptoms and preventing complications. It may include:

* Nasal decongestants and antihistamines to reduce bleeding and swelling.
* Corticosteroids to reduce inflammation.
* Antifibrinolytic medications to prevent blood clots from breaking down.
* Surgery to repair or remove affected blood vessels.
* Regular monitoring of blood counts and platelet function.

Early diagnosis and treatment can help improve the quality of life for people with HHT. It is important to seek medical attention if symptoms persist or worsen over time.

There are several types of ataxia, each with different symptoms and causes. Some common forms of ataxia include:

1. Spinocerebellar ataxia (SCA): This is the most common form of ataxia and is caused by a degeneration of the cerebellum and spinal cord. It can cause progressive weakness, loss of coordination, and difficulty with speaking and swallowing.
2. Friedreich's ataxia: This is the second most common form of ataxia and is caused by a deficiency of vitamin E in the body. It can cause weakness in the legs, difficulty walking, and problems with speech and language.
3. Ataxia-telangiectasia (AT): This is a rare form of ataxia that is caused by a gene mutation. It can cause progressive weakness, loss of coordination, and an increased risk of developing cancer.
4. Acute cerebellar ataxia: This is a sudden and temporary form of ataxia that can be caused by a variety of factors such as infections, injuries, or certain medications.
5. Drug-induced ataxia: Certain medications can cause ataxia as a side effect.
6. Vitamin deficiency ataxia: Deficiencies in vitamins such as vitamin B12 or folate can cause ataxia.
7. Metabolic disorders: Certain metabolic disorders such as hypothyroidism, hyperthyroidism, and hypoglycemia can cause ataxia.
8. Stroke or brain injury: Ataxia can be a result of a stroke or brain injury.
9. Multiple system atrophy (MSA): This is a rare progressive neurodegenerative disorder that can cause ataxia, parkinsonism, and autonomic dysfunction.
10. Spinocerebellar ataxia (SCA): This is a group of rare genetic disorders that can cause progressive cerebellar ataxia, muscle wasting, and other signs and symptoms.

It's important to note that this is not an exhaustive list and there may be other causes of ataxia not mentioned here. If you suspect you or someone you know may have ataxia, it is important to consult a healthcare professional for proper diagnosis and treatment.

Causes:

* Genetic mutations or deletions
* Infections such as meningitis or encephalitis
* Stroke or bleeding in the brain
* Traumatic head injury
* Multiple sclerosis or other demyelinating diseases
* Brain tumors
* Cerebellar degeneration due to aging

Symptoms:

* Coordination difficulties, such as stumbling or poor balance
* Tremors or shaky movements
* Slurred speech and difficulty with fine motor skills
* Nystagmus (involuntary eye movements)
* Difficulty with gait and walking
* Fatigue, weakness, and muscle wasting

Diagnosis:

* Physical examination and medical history
* Neurological examination to test coordination, balance, and reflexes
* Imaging studies such as MRI or CT scans to rule out other conditions
* Genetic testing to identify inherited forms of cerebellar ataxia
* Electromyography (EMG) to test muscle activity and nerve function

Treatment:

* Physical therapy to improve balance, coordination, and gait
* Occupational therapy to help with daily activities and fine motor skills
* Speech therapy to address slurred speech and communication difficulties
* Medications to manage symptoms such as tremors or spasticity
* Assistive devices such as canes or walkers to improve mobility

Prognosis:

* The prognosis for cerebellar ataxia varies depending on the underlying cause. In some cases, the condition may be slowly progressive and lead to significant disability over time. In other cases, the condition may remain stable or even improve with treatment.

Living with cerebellar ataxia can be challenging, but there are many resources available to help individuals with the condition manage their symptoms and maintain their quality of life. These resources may include:

* Physical therapy to improve balance and coordination
* Occupational therapy to assist with daily activities
* Speech therapy to address communication difficulties
* Assistive devices such as canes or walkers to improve mobility
* Medications to manage symptoms such as tremors or spasticity
* Support groups for individuals with cerebellar ataxia and their families

Overall, the key to managing cerebellar ataxia is early diagnosis and aggressive treatment. With proper management, individuals with this condition can lead active and fulfilling lives despite the challenges they face.

Retinal telangiectasis is a relatively rare condition, but it can be associated with other health conditions such as high blood pressure, diabetes, and sickle cell disease. It can also be caused by certain medications or injuries to the eye.

Symptoms of retinal telangiectasis can include blurred vision, floaters, flashes of light, and distorted vision. In some cases, the condition can lead to retinal detachment, which is a more serious complication that can cause blindness if left untreated.

Diagnosis of retinal telangiectasis typically involves a comprehensive eye exam, including a visual acuity test, dilated eye exam, and imaging tests such as fluorescein angiography or optical coherence tomography (OCT).

Treatment for retinal telangiectasis depends on the severity of the condition and can include close monitoring, medications to control underlying conditions such as high blood pressure, and in some cases, laser surgery or vitrectomy to repair damaged blood vessels. Early detection and treatment can help to slow the progression of the condition and preserve vision.

There are multiple types of SCA, each caused by an expansion of a specific DNA repeat sequence in the genome. This expansion leads to a loss of function in the protein produced by that gene, which is involved in various cellular processes that are essential for the proper functioning of the nervous system.

The symptoms of SCA typically begin in adulthood and can vary in severity and progression depending on the specific type of disorder. They may include:

1. Coordination problems and balance difficulties, leading to a wide, unsteady gait.
2. Slurred speech and difficulty with swallowing.
3. Difficulty with fine motor movements, such as writing or using utensils.
4. Loss of vision, including blindness in some cases.
5. Cognitive decline and dementia.
6. Seizures and other neurological problems.

There is currently no cure for SCA, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medication to control seizures or other neurological problems. In some cases, surgery may be necessary to relieve pressure on the brain or spinal cord.

Genetic testing can help diagnose SCA by detecting the expansion of the specific DNA repeat sequence that causes the disorder. This information can also be used to inform family members about their risk of inheriting the condition.

In summary, spinocerebellar ataxias are a group of inherited disorders that affect the brain and spinal cord, leading to progressive degeneration of the nervous system and a range of symptoms including coordination problems, slurred speech, and loss of vision. While there is currently no cure for SCA, treatment can help manage symptoms and improve quality of life. Genetic testing can help diagnose the condition and inform family members about their risk of inheriting it.

The main symptoms of gait ataxia include:

* Unsteadiness
* Lack of coordination
* Wobbling or staggering while walking
* Increased risk of falling
* Difficulty with balance and equilibrium
* Slow and deliberate movements

Gait ataxia can be assessed using various clinical tests such as the Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, and the Timed Up and Go test. Treatment options for gait ataxia depend on the underlying cause of the condition and may include physical therapy, occupational therapy, speech therapy, medications, and in some cases, surgery.

In summary, gait ataxia is a term used to describe an abnormal gait pattern due to dysfunction in the nervous system. It can be caused by various factors and can affect individuals of all ages. The symptoms include unsteadiness, lack of coordination, and increased risk of falling, among others. Treatment options depend on the underlying cause of the condition and may include physical therapy, medications, and in some cases, surgery.

Definition: A nosebleed, also known as a bloody nose, is a common condition that occurs when the nasal passages bleed. It can be caused by a variety of factors, such as dry air, allergies, colds, sinus infections, and injuries to the nose.

Synonyms: Nosebleed, bloody nose, anterior epistaxis, posterior epistaxis.

Antonyms: None.

Epistaxis is a common condition that can be caused by a variety of factors, including:

1. Dry air: Dry air can cause the nasal passages to become dry and cracked, leading to bleeding.
2. Allergies: Seasonal allergies or allergies to dust, pollen, or other substances can cause inflammation and irritation in the nasal passages, leading to bleeding.
3. Colds: A common cold can cause inflammation and congestion in the nasal passages, leading to bleeding.
4. Sinus infections: An infection in the sinuses can cause inflammation and bleeding in the nasal passages.
5. Injuries: Trauma to the nose, such as a blow to the face or a fall, can cause bleeding.
6. Medications: Certain medications, such as aspirin or warfarin, can thin the blood and increase the risk of bleeding.
7. High blood pressure: High blood pressure can cause damage to the blood vessels in the nose, leading to bleeding.
8. Nose picking: Picking or blowing the nose too forcefully can cause trauma to the nasal passages and lead to bleeding.
9. Hereditary hemorrhagic telangiectasia (HHT): A rare genetic disorder that affects the blood vessels and can cause recurring nosebleeds.

Symptoms of epistaxis may include:

1. Blood flowing from one or both nostrils
2. Nasal congestion or stuffiness
3. Pain or discomfort in the nose or face
4. Difficulty breathing through the nose
5. Postnasal drip (mucus running down the back of the throat)
6. Swelling around the eyes or face
7. Fever or chills
8. Headache
9. Weakness or fatigue

If you experience any of these symptoms, it is important to seek medical attention. A healthcare professional can diagnose the cause of the nosebleed and recommend appropriate treatment. Treatment for epistaxis may include:

1. Nasal decongestants or antihistamines to reduce nasal congestion
2. Topical or oral antibiotics to treat any underlying infections
3. Applications of a topical ointment or cream to help protect the nasal passages and promote healing
4. Injectable medications to help constrict blood vessels and stop bleeding
5. Surgery to repair damaged blood vessels or remove any foreign objects that may be causing the bleeding.

AVMs are characterized by a tangle of abnormal blood vessels that can cause a variety of symptoms, including:

* Headaches
* Seizures
* Stroke-like episodes
* Neurological deficits such as weakness or numbness
* Vision problems
* Pain

AVMs can be diagnosed through a combination of imaging studies such as CT or MRI scans, and catheter angiography. Treatment options for AVMs include:

* Endovascular embolization, which involves using a catheter to inject materials into the abnormal blood vessels to block them off
* Surgery to remove the AVM
* Radiation therapy to shrink the AVM

The goal of treatment is to prevent bleeding, seizures, and other complications associated with AVMs. In some cases, treatment may not be necessary if the AVM is small and not causing any symptoms. However, in more severe cases, prompt treatment can significantly improve outcomes.

The main symptoms of NBS include:

* Microcephaly (a small head)
* Growth retardation
* Immune deficiency
* Neurological problems, such as seizures and developmental delays
* Skeletal abnormalities, such as short limbs and joint deformities
* Skin changes, such as a wrinkled appearance and increased risk of skin cancer

NBS is usually diagnosed through genetic testing, and treatment is focused on managing the symptoms and preventing complications. This may include physical therapy to improve mobility and strength, medication to control seizures, and antibiotics to prevent infections. In some cases, bone marrow transplantation may be recommended to restore immune function.

The prognosis for NBS is generally poor, with many individuals experiencing significant disability and a shortened lifespan. However, with appropriate medical care and support, some individuals with NBS can lead relatively normal lives.

Sources:

1. Genetics Home Reference (2022). Crest syndrome. Retrieved from
2. Orphanet (2022). Crest syndrome. Retrieved from
3. MedlinePlus (2022). Crest syndrome. Retrieved from

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Cardiac output (CO) is a measure of the heart's ability to pump blood effectively. A high cardiac output indicates that the heart is pumping a large amount of blood per minute, which can be necessary for meeting the body's increased demands during physical activity or stress.

A cardiac output of more than 10 liters per minute is generally considered high. This can be caused by a variety of factors, including:

* Increased heart rate: A fast heart rate can increase the amount of blood being pumped by the heart.
* Increased stroke volume: When the heart muscle contracts, it can pump more blood with each beat if the stroke volume is increased.
* Increased cardiac power: This refers to the overall force of the heart's contractions, which can be increased in conditions such as hypertension or athetosis.

A high cardiac output can be beneficial in certain situations, such as during exercise or when the body needs more oxygen and nutrients. However, a consistently high cardiac output can also be indicative of a cardiovascular condition that needs to be treated.

Some possible causes of a high cardiac output include:

* Heart failure: This is a condition in which the heart is unable to pump enough blood to meet the body's needs.
* Hypertension: High blood pressure can put extra strain on the heart, causing it to work harder and increase its cardiac output.
* Athetosis: This is a condition characterized by an abnormal heart rhythm, which can cause the heart to beat more quickly and increase its cardiac output.
* Anemia: A lack of red blood cells can lead to a decrease in oxygen delivery to the body's tissues, causing the heart to work harder and increase its cardiac output.

In summary, a high cardiac output is generally considered to be more than 10 liters per minute and can be caused by a variety of factors, including increased heart rate, stroke volume, or cardiac power. While a high cardiac output can be beneficial in certain situations, it can also be indicative of a underlying cardiovascular condition that needs to be treated.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Examples of Immunologic Deficiency Syndromes include:

1. Primary Immunodeficiency Diseases (PIDDs): These are a group of genetic disorders that affect the immune system's ability to function properly. Examples include X-linked agammaglobulinemia, common variable immunodeficiency, and severe combined immunodeficiency.
2. Acquired Immunodeficiency Syndrome (AIDS): This is a condition that results from the human immunodeficiency virus (HIV) infection, which destroys CD4 cells, a type of immune cell that fights off infections.
3. Immune Thrombocytopenic Purpura (ITP): This is an autoimmune disorder that causes the immune system to attack and destroy platelets, which are blood cells that help the blood to clot.
4. Autoimmune Disorders: These are conditions in which the immune system mistakenly attacks and damages healthy cells and tissues in the body. Examples include rheumatoid arthritis, lupus, and multiple sclerosis.
5. Immunosuppressive Therapy-induced Immunodeficiency: This is a condition that occurs as a side effect of medications used to prevent rejection in organ transplant patients. These medications can suppress the immune system, increasing the risk of infections.

Symptoms of Immunologic Deficiency Syndromes can vary depending on the specific disorder and the severity of the immune system dysfunction. Common symptoms include recurrent infections, fatigue, fever, and swollen lymph nodes. Treatment options for these syndromes range from medications to suppress the immune system to surgery or bone marrow transplantation.

In summary, Immunologic Deficiency Syndromes are a group of disorders that result from dysfunction of the immune system, leading to recurrent infections and other symptoms. There are many different types of these syndromes, each with its own set of symptoms and treatment options.

The symptoms of MJD typically begin in adulthood and progress slowly over time. They may include:

* Ataxia (loss of coordination and balance)
* Dysmetria (increased muscle tone)
* Dystonia (muscle spasms and twitches)
* Myoclonus (involuntary muscle jerks)
* Seizures
* Cognitive decline
* Eye movements abnormalities
* Slurred speech

MJD is usually diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for MJD, but various therapies can help manage its symptoms. These may include physical therapy, occupational therapy, speech therapy, and medications to control seizures or muscle spasms.

MJD is a rare disease, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 individuals of Portuguese or Brazilian descent. The disease is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

While there is currently no cure for MJD, research into its genetic and pathophysiological mechanisms is ongoing. Scientists are working to develop new treatments and therapies to slow or stop the progression of the disease, and to improve the quality of life for affected individuals and their families.

Examples of retinal diseases include:

1. Age-related macular degeneration (AMD): a leading cause of vision loss in people over the age of 50, AMD affects the macula, the part of the retina responsible for central vision.
2. Diabetic retinopathy (DR): a complication of diabetes that damages blood vessels in the retina and can cause blindness.
3. Retinal detachment: a condition where the retina becomes separated from the underlying tissue, causing vision loss.
4. Macular edema: swelling of the macula that can cause vision loss.
5. Retinal vein occlusion (RVO): a blockage of the small veins in the retina that can cause vision loss.
6. Retinitis pigmentosa (RP): a group of inherited disorders that affect the retina and can cause progressive vision loss.
7. Leber congenital amaurosis (LCA): an inherited disorder that causes blindness or severe visual impairment at birth or in early childhood.
8. Stargardt disease: a rare inherited disorder that affects the retina and can cause progressive vision loss, usually starting in childhood.
9. Juvenile macular degeneration: a rare inherited disorder that causes vision loss in young adults.
10. Retinal dystrophy: a group of inherited disorders that affect the retina and can cause progressive vision loss.

Retinal diseases can be diagnosed with a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and imaging tests such as optical coherence tomography (OCT) or fluorescein angiography. Treatment options vary depending on the specific disease and can include medication, laser surgery, or vitrectomy.

It's important to note that many retinal diseases can be inherited, so if you have a family history of eye problems, it's important to discuss your risk factors with your eye doctor. Early detection and treatment can help preserve vision and improve quality of life for those affected by these diseases.

There are several types of lymphoma, including:

1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.

The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:

* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Itching

Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.

Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

What does angiodysplasia mean? What are the symptoms of angiodysplasia? How is angiodysplasia diagnosed and treated?

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are several types of intracranial AVMs, including:

1. Cerebral AVMs: These are the most common type of AVM and occur in the cerebral hemispheres of the brain.
2. Spinal AVMs: These occur in the spinal cord and are less common than cerebral AVMs.
3. Multiple AVMs: Some people may have multiple AVMs, which can be located in different parts of the brain or spine.

The symptoms of intracranial AVMs can vary depending on the location and size of the malformation. They may include:

1. Seizures: AVMs can cause seizures, which can be a sign of the malformation.
2. Headaches: Patients with AVMs may experience frequent and severe headaches.
3. Weakness or numbness: AVMs can cause weakness or numbness in the arms or legs.
4. Vision problems: AVMs can affect the vision, including blurriness, double vision, or loss of peripheral vision.
5. Confusion or disorientation: Patients with AVMs may experience confusion or disorientation.
6. Seizures: AVMs can cause seizures, which can be a sign of the malformation.
7. Cranial nerve deficits: AVMs can affect the cranial nerves, leading to problems with speech, hearing, or facial movements.
8. Hydrocephalus: AVMs can cause hydrocephalus, which is an accumulation of fluid in the brain.

The diagnosis of intracranial AVMs is based on a combination of clinical symptoms, neuroimaging studies such as CT or MRI scans, and angiography. Angiography is a test that uses dye and X-rays to visualize the blood vessels in the brain.

Treatment of intracranial AVMs usually involves a multidisciplinary approach, including neurosurgeons, interventional neuroradiologists, and neurologists. Treatment options may include:

1. Observation: Small AVMs that are not causing symptoms may be monitored with regular imaging studies to see if they grow or change over time.
2. Endovascular embolization: This is a minimally invasive procedure in which a catheter is inserted through a blood vessel in the leg and directed to the AVM in the brain. Once there, the catheter releases tiny particles that block the flow of blood into the AVM, causing it to shrink or disappear.
3. Surgery: In some cases, surgery may be necessary to remove the AVM. This is usually done when the AVM is large or in a location that makes it difficult to treat with endovascular embolization.
4. Radiation therapy: This may be used to shrink the AVM before surgery or as a standalone treatment.
5. Chemotherapy: This may be used in combination with radiation therapy to treat AVMs that are caused by a genetic condition called hereditary hemorrhagic telangiectasia (HHT).

The choice of treatment depends on the location and size of the AVM, as well as the patient's overall health and other medical conditions. In some cases, a combination of treatments may be necessary to achieve the best outcome.

... (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... No curative medication has been approved for the treatment of inherited cerebellar ataxias, including Ataxia-Telangiectasia. N- ... Ataxia-oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia-telangiectasia like disorder (ATLD) Nijmegen breakage ... Most often the ataxia appears between 10 and 15 years of age, and differs from A-T by the absence of telangiectasia and ...

https://en.wikipedia.org/wiki/Ataxia–telangiectasia

... (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse ... Tauchi H, Green C, Knapp M, Laderoute K, Kapp L (2000). "Altered splicing of the ATDC message in ataxia telangiectasia group D ... Laderoute KR, Knapp AM, Green CJ, Sutherland RM, Kapp LN (1996). "Expression of the ATDC (ataxia telangiectasia group D- ... "The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and ...

https://en.wikipedia.org/wiki/Ataxia-telangiectasia_group_D_complementing

Ataxia telangiectasia and Rad3-related protein has been shown to interact with: BRCA1, CHD4, HDAC2, MSH2, P53 RAD17, and RHEB. ... 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 (September 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following ...

https://en.wikipedia.org/wiki/Ataxia_telangiectasia_and_Rad3_related

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 ...

https://en.wikipedia.org/wiki/Therapeutic_index

"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 ...

https://en.wikipedia.org/wiki/DNA_ligase

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

https://en.wikipedia.org/wiki/Royal_Papworth_Hospital

Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". Journal of Clinical Pathology. 58 (10): 1009 ... the liver Nonseminomatous germ cell tumors Yolk sac tumor Other conditions associated with elevated AFP Ataxia telangiectasia: ...

https://en.wikipedia.org/wiki/Alpha-fetoprotein

McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of ...

https://en.wikipedia.org/wiki/Short-limb_skeletal_dysplasia_with_severe_combined_immunodeficiency

1996). "Accelerated telomere shortening in ataxia telangiectasia". Nat. Genet. 13 (3): 350-353. doi:10.1038/ng0796-350. PMID ...

https://en.wikipedia.org/wiki/Stem_cell_theory_of_aging

"N-Acetyl-L-Leucine for Ataxia-Telangiectasia". clinicaltrials.gov. Retrieved 2019-08-01. "IntraBio". Retrieved 2019-08-01. ... and Ataxia-Telangiectasia. Future opportunities to develop N-Acetyl-Leucine include Lewy body dementia, amyotrophic lateral ... Neurological signs and symptoms include cerebellar ataxia (unsteady walking with uncoordinated limb movements), dysarthria ( ...

https://en.wikipedia.org/wiki/Niemann–Pick_disease,_type_C

"N-Acetyl-L-Leucine for Ataxia-Telangiectasia". clinicaltrials.gov. Retrieved 2019-08-01. "IntraBio". Archived from the original ... parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and Ataxia-Telangiectasia. ...

https://en.wikipedia.org/wiki/GM2_gangliosidoses

"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. ...

https://en.wikipedia.org/wiki/NPAT_(gene)

"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 ...

https://en.wikipedia.org/wiki/Penelope_Jeggo

... 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". Nature Neuroscience. 16 (12): 1745- ...

https://en.wikipedia.org/wiki/EZH2

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: ...

https://en.wikipedia.org/wiki/SH3D21

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

https://en.wikipedia.org/wiki/Nuclease

Ataxia-telangiectasia is due to mutation in the Atm gene. Wild-type Atm encodes a protein kinase employed in chromatin ... "Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia". Nature Medicine. 18 (5): ... and altered neuronal gene expression that likely contributes to the neurodegeneration characteristic of ataxia-telangiectasia. ...

https://en.wikipedia.org/wiki/Histone_deacetylase

... has been shown to interact with: FANCI Ataxia telangiectasia mutated, BARD1, BRCA1. BRCA2, FANCE, HTATIP, and MEN1. ... Castillo P, Bogliolo M, Surralles J (May 2011). "Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in ... May 2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-72. doi:10.1016 ... May 2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-72. doi:10.1016 ...

https://en.wikipedia.org/wiki/FANCD2

1989). "Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia". Ann. Neurol. 24 (4): 497-502. doi:10.1002/ana ... GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 1 OMIM entries on Ataxia with Oculomotor Apraxia Type 1 ... 2005). "The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break ... Ataxia oculomotor apraxia-1 is a neurological disorder caused by mutations in the APTX gene that encodes aprataxin. The ...

https://en.wikipedia.org/wiki/Aprataxin

He had been suffering for many years of Ataxia telangiectasia. She also came out some time later as a lesbian. She has made a ...

https://en.wikipedia.org/wiki/X-Quisite

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

https://en.wikipedia.org/wiki/PLK3

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

https://en.wikipedia.org/wiki/Michael_Stratton

His son Rupert died in 2017 aged 31 from ataxia-telangiectasia. Oleg Prokofiev died in 1998 aged 69, while on holiday on the ...

https://en.wikipedia.org/wiki/Oleg_Prokofiev

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

https://en.wikipedia.org/wiki/RRM2B

"Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences". The American Journal of Human ...

https://en.wikipedia.org/wiki/Periannan_Senapathy

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

https://en.wikipedia.org/wiki/Rad50

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 ...

https://en.wikipedia.org/wiki/RBBP8

"A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia". Movement Disorders. 27 (10): 1312 ... symptoms associated with ataxia telangiectasia (A-T) by 28-31%. Betamethasone is also used to stimulate fetal lung maturation ... In a randomized controlled trial betamethasone was shown to reduce some of the ataxia (poor coordination) ...

https://en.wikipedia.org/wiki/Betamethasone

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 ...

https://en.wikipedia.org/wiki/TRIM29

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

https://en.wikipedia.org/wiki/TOP2B

... 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 Cerebellar degeneration, ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

... ataxia-telangiectasia mutated) serine/threonine kinase weakens with age in oocytes of numerous species including humans. The ...

https://en.wikipedia.org/wiki/Age_and_female_fertility

... a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product". Cell. 82 (5): 849-56. doi:10.1016/0092 ...

https://en.wikipedia.org/wiki/DNA-PKcs

These include ataxia-telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, ...

https://en.wikipedia.org/wiki/DNA_damage_theory_of_aging

Premature aging syndromes including Werner syndrome, Progeria, Ataxia telangiectasia, Ataxia-telangiectasia like disorder, ...

https://en.wikipedia.org/wiki/Telomerase

... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, Spinocerebellar ataxia, Ataxia telangiectasia, Vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... Clinical trial number NCT03759678 for "N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)" at ClinicalTrials.gov Clinical trial ... The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia ...

https://en.wikipedia.org/wiki/Spinocerebellar_ataxia

Some primary immune deficiencies include ataxia-telangiectasia (A-T), autosomal recessive agammaglobulinemia (ARA), common ...

https://en.wikipedia.org/wiki/Hypogammaglobulinemia

Castillo P, Bogliolo M, Surralles J (May 2011). "Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in ...

https://en.wikipedia.org/wiki/PALB2

... ataxia-telangiectasia, The treatment of primary immunodeficiencies depends foremost on the nature of the abnormality. Somatic ...

https://en.wikipedia.org/wiki/Primary_immunodeficiency

The presence of DNA damage triggers the ATM (Ataxia telangiectasia mutated) or ATR (Ataxia Telangiectasia and Rad3 related) ...

https://en.wikipedia.org/wiki/G2-M_DNA_damage_checkpoint

Ataxia telangiectasia mutated) and ATR (Ataxia- and Rad-related) kinases, whose sequence and functions have been well conserved ... Ataxia telangiectasia: sensitivity to ionizing radiation and some chemical agents All of the above diseases are often called " ... to inhibit the double-strand break response kinase ataxia telangiectasia (ATM), leading to increased tumor size and ...

https://en.wikipedia.org/wiki/DNA_repair

"Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient". PLOS Medicine. 6 (2 ...

https://en.wikipedia.org/wiki/Endogenous_regeneration

Arthrogryposis-renal dysfunction-cholestasis syndrome Ataxia telangiectasia (Louis-Bar syndrome) Atrichia with papular lesions ... Telangiectasia Telangiectasia macularis eruptiva perstans Teratoma Tufted angioma (acquired tufted angioma, angioblastoma, ... Food-induced purpura Generalized essential telangiectasia (general essential telangiectasia) Giant-cell arteritis Gougerot-Blum ... Traumatic purpura Trousseau's syndrome Unilateral nevoid telangiectasia (nevoid telangiectasia) Urticarial vasculitis (chronic ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

Inherited immune deficiency - severe combined immunodeficiency, common variable immune deficiency, ataxia-telangiectasia, ...

https://en.wikipedia.org/wiki/White_blood_cell

Ataxia telangiectasia mutated) or ATR (Ataxia Telangiectasia and Rad3 related), which act as sensors, depending on the type of ...

https://en.wikipedia.org/wiki/Cell_cycle_checkpoint

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) Ataxia-telangiectasia Sturge-Weber syndrome, a nevus ... similar mechanism and etiology to ataxia telangiectasia) Naevus flammeus (port-wine stain) Klippel-Trenaunay syndrome Maffucci ... Because telangiectasias are vascular lesions, they blanch when tested with diascopy. Telangiectasias, aside from presenting in ... sclerodactyly and telangiectasia. The causes of telangiectasia can be divided into congenital and acquired factors. Goldman ...

https://en.wikipedia.org/wiki/Telangiectasia

Nijmegen breakage syndrome X-linked lissencephaly with abnormal genitalia Aicardi-Goutières syndrome Ataxia telangiectasia ...

https://en.wikipedia.org/wiki/Microcephaly

... ataxia-telangiectasia, paroxysmal nocturnal hemoglobinuria, and Li-Fraumeni syndrome. Fewer than 5% of cases are associated ...

https://en.wikipedia.org/wiki/Acute_lymphoblastic_leukemia

APTX Ataxia-ocular apraxia-2; 606002; SETX Ataxia-telangiectasia; 208900; ATM Ataxia-telangiectasia-like disorder; 604391; ... TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early- ... COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; ... ITPR1 Spinocerebellar ataxia 17; 607136; TBP Spinocerebellar ataxia 28; 610246; AFG3L2 Spinocerebellar ataxia 31; 117210; BEAN ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

... has been shown to interact with: Ataxia telangiectasia and Rad3 related, Ataxia telangiectasia mutated, HUS1, NHP2L1, ...

https://en.wikipedia.org/wiki/RAD17

... ataxia-telangiectasia (sensory and cerebellar, with the latter predominating),autosomal recessive spinocerebellar ataxia-14 and ... It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. Novel therapies target the RNA defects associated ...

https://en.wikipedia.org/wiki/Ataxia

Ataxia telangiectasia and Rad3 related), and his studies on how these and additional DNA repair factors interact with and ...

https://en.wikipedia.org/wiki/Stephen_Jackson_(scientist)

One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein ( ...

https://en.wikipedia.org/wiki/Seckel_syndrome

... with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly syndrome Telangiectasia ataxia variant V1 Telangiectasia, ... hereditary hemorrhagic Telangiectasia Telecanthus hypertelorism pes cavus Telecanthus with associated abnormalities ...

https://en.wikipedia.org/wiki/List_of_diseases_(T)

Myoclonic progressive familial epilepsy Myoclonus ataxia Myoclonus cerebellar ataxia deafness Myoclonus epilepsy partial ... retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia telangiectasia ... unusual facies Mumps Münchausen syndrome Münchausen syndrome by proxy Muscle-eye-brain syndrome Muscular atrophy ataxia ... Marfanoid hypermobility Marfanoid mental retardation syndrome autosomal Marginal glioneuronal heterotopia Marie type ataxia ...

https://en.wikipedia.org/wiki/List_of_diseases_(M)

... ataxia-telangiectasia, and dyskeratosis congenita); and infections caused by EBV, cytomegalovirus, HIV/AIDS, bacteria, protozoa ...

https://en.wikipedia.org/wiki/Hemophagocytic_lymphohistiocytosis

Ataxia-telangiectasia Bloom syndrome BRCA1 & BRCA2 Fanconi anemia Familial adenomatous polyposis Hereditary breast and ovarian ...

https://en.wikipedia.org/wiki/Causes_of_cancer

... cerebello-oculocutaneous telangiectasia, and immunodeficiency with ataxia telangiectasia-is a rare inherited childhood ... Ataxia telangiectasia (AT)-also known as Louis-Bar syndrome, ... What is ataxia telangiectasia?. Ataxia Telangiectasia (AT)-also ... Where can I find more information about ataxia telangiectasia?. Information is available from the following resources: ... known as Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, or immunodeficiency with ataxia telangiectasia-is a rare ...

https://www.ninds.nih.gov/health-information/disorders/ataxia-telangiectasia

Ataxia Telangiectasia[majr:noexp] AND humans[mh] AND english[la] AND last 1 Year [edat] NOT (letter[pt] OR case reports[pt] ... Ataxia Telangiectasia[majr:noexp] AND humans[mh] AND english[la] AND last 1 Year [edat] NOT (letter[pt] OR case reports[pt] ... Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. Pastorino L, Dalmasso B, Allavena E, Vanni I, Ugolini F, ... A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder. Magrino J, Munford V, Martins DJ, Homma TK, ...

https://pubmed.ncbi.nlm.nih.gov/?term=%22Ataxia+Telangiectasia%22%5Bmajr%3Anoexp%5D+AND+humans%5Bmh%5D+AND+english%5Bla%5D+AND+%22last+1+Year%22+%5Bedat%5D+NOT+%28letter%5Bpt%5D+OR+case+reports%5Bpt%5D+OR+editorial%5Bpt%5D+OR+comment%5Bpt%5D%29+AND+free+full+text%5Bsb%5D+

Find symptoms and other information about Ataxia-telangiectasia. ... Ataxia-telangiectasia. Other Names: Louis-Bar syndromeLouis-Bar ... Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the ... Ataxia-telangiectasia is a genetic disease, which means that it is caused by one or more genes not working correctly. ... When Do Symptoms of Ataxia-telangiectasia Begin?. Symptoms of this disease may start to appear as an Infant and as a Child.. ...

https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia

Clinical resource with information about Ataxia-telangiectasia syndrome and its clinical features, ATM, available genetic tests ... ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A; ATAXIA-TELANGIECTASIA, FRESNO VARIANT; Ataxia-telangiectasia; Ataxia- ... Ataxia-Telangiectasia. Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ... Ataxia-telangiectasia, complementation group E; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia ...

https://www.ncbi.nlm.nih.gov/gtr/conditions/C0004135/

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) * Ataxia-Telangiectasia (For Parents) (Nemours ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems ...

http://www.nlm.nih.gov/medlineplus/ataxiatelangiectasia.html

https://medlineplus.gov/ataxiatelangiectasia.html

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. ... medlineplus.gov/genetics/condition/ataxia-telangiectasia/ Ataxia-telangiectasia. ... Ataxia-telangiectasia is inherited in an autosomal recessive pattern. , which means both copies of the ATM gene in each cell ... ATM and ataxia telangiectasia. EMBO Rep. 2004 Aug;5(8):772-6. doi: 10.1038/sj.embor.7400210. Citation on PubMed or Free article ...

http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

View an Illustration of Ataxia Telangiectasia (Legs) and learn more about Vascular, Lymphatic and Systemic Conditions. ... Picture of Ataxia Telangiectasia (Legs). Ataxia telangiectasia (A-T) is rare genetic disease that affects the nervous system, ... skin center/ skin a-z list/ image collection a-z list/ ataxia telangiectasia (legs) picture article ...

https://www.medicinenet.com/image-collection/ataxia_telangiectasia_legs_picture/picture.htm

The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. We ... EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia Nat Neurosci. 2013 Dec;16(12):1745-53. ... The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. We ... Ataxia Telangiectasia Mutated Proteins / genetics * Ataxia Telangiectasia Mutated Proteins / metabolism * Ataxia Telangiectasia ...

https://pubmed.ncbi.nlm.nih.gov/24162653/

Understanding and Treating Ataxia-Telangiectasia (R03) PA-07-274. NINDS ... Title: Understanding and Treating Ataxia-Telangiectasia (R03). Announcement Type New Update: The following update relating to ... Ataxia Telangiectasia is a recessive genetic disease associated with loss-of-function mutations in the ATM gene. The ATM gene ... Ataxia-telangiectasia (A-T) is a rare, progressive, fatal childhood disease that affects multiple organ systems. The first ...

https://grants.nih.gov/grants/guide/pa-files/PA-07-274.html

Ataxia-Telangiectasia Childrens Project) Ataxia Telangiectasia/Learn More ... Ataxia Telangiectasia ... Ataxia-Telangiectasia ... Ataxia-Telangiectasia (For Parents) (Nemours Foundation) ataxia-telangiectasia, ataxia, telangiectasia, trouble walking, ... ClinicalTrials.gov: Ataxia Telangiectasia (National Institutes of Health) Ataxia Telangiectasia/Clinical Trials ... Ataxia ... Ataxia Telangiectasia (National Library of Medicine) Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the ...

https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ataxia-telangiectasia%20syndrome

http://grants2.nih.gov/grants/guide/pa-files/PA-07-274.html

Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders. Raslan IR, de Assis Pereira ... Ophthalmic features of ataxia telangiectasia-like disorder Arif O Khan 1 , Darren T Oystreck, Michel Koenig, Mustafa A Salih ... Ophthalmic features of ataxia telangiectasia-like disorder Arif O Khan et al. J AAPOS. 2008 Apr. ... Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. Taylor AM, Groom A, Byrd PJ. Taylor ...

https://pubmed.ncbi.nlm.nih.gov/18083591/

Learn about diagnosis and specialist referrals for Ataxia-telangiectasia. ... Ataxia-telangiectasia. Other Names: Louis-Bar syndromeLouis-Bar syndrome. Read More ...

https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia/diagnosis

... ... Ataxia Telangiectasia (A-T) is an autosomal recessive disorder characterised by cerebellar degeneration, immunodeficiency, ... Ataxia Telangiectasia, Magnetic Resonance Imaging (MRI), Public and Patient Involvement and Engagement (PPIE), cancer ...

https://unow.nottingham.ac.uk/handle/internal/10458

Start Over You searched for: Subjects Ataxia Telangiectasia ✖Remove constraint Subjects: Ataxia Telangiectasia ... 1. Hereditary ataxia telangiectasia Publication: Columbia, Mo. : The Group, 1976 Subject(s): Ataxia Telangiectasia ...

https://collections.nlm.nih.gov/?f%5Bdrep2.subjectAggregate%5D%5B%5D=Ataxia+Telangiectasia&per_page=100

If someone finds his/her copyrighted content published on this site/blog and wants it to be removed, please CONTACT US and tell in detail about what material should be removed/credited to, along with DETAILS of your webpage/source from which it has been taken and your copyright authority over the material ...

http://www.mediconotebook.com/2011/01/ataxia-telangiectasia.html

Proteínas Mutadas de Ataxia Telangiectasia Idioma: Inglês Revista: Cancer Sci Ano de publicação: 2021 Tipo de documento: Artigo ... Proteínas Mutadas de Ataxia Telangiectasia Idioma: Inglês Revista: Cancer Sci Ano de publicação: 2021 Tipo de documento: Artigo ... WEE1 inhibitor and ataxia telangiectasia and RAD3-related inhibitor trigger stimulator of interferon gene-dependent immune ... Proteínas Mutadas de Ataxia Telangiectasia/antagonistas & inibidores; Antígeno B7-H1/antagonistas & inibidores; Proteínas de ...

https://pesquisa.bvsalud.org/portal/resource/pt/mdl-34382294

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Order Recombinant Ataxia Telangiectasia Mutated ATM 01018050578 at Gentaur Ataxia Telangiectasia Mutated (ATM) ...

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Use Ubies free Telangiectasia Ataxia Quiz to check the possibility of migraine & similar diseases. Our AI Symptom Checker ... telangiectasia ataxia. There is no specific treatment or cure for telangiectasia ataxia. Treatment involves physical therapy, ... Ataxia-telangiectasia is a rare, inherited disorder that affects the nervous system, immune system, and other body systems ... Telangiectasia ataxia as well as similar diseases can be checked at the same time. ...

https://ubiehealth.com/diseases/telangiectasia-ataxia

Ataxia telangiectasia. *Síndrome de deleción del cromosoma 22q11.2 (en ocasiones llamado síndrome de DiGeorge) ...

https://www.nhlbi.nih.gov/es/health/lymphopenia/causes

Ataxia-telangiectasia heterozygotes (4 times increased risk) * Ashkenazi Jewish descent (2 times greater risk; independent of ...

https://www.medscape.com/answers/1945957-180247/what-is-the-brcapro-breast-cancer-risk-assessment-tool

O6.4VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein. ... O6.4VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein. ...

https://www.immunology.ox.ac.uk/publications/514689

Rehabilitation and Ataxia Telangiectasia. Rehabilitation has a great deal to offer persons with A-T and their families. However ... HomeAbout Ataxia-TelangiectasiaCaregiver ResourcesChapter 10: General Principles of Rehabilitation ... For example, learning how to best position ones body and arms so that the effect of the tremor or ataxia is minimized when ... While therapy will not eliminate the coordination problems, ataxia and involuntary movements that are part of A-T, it can ...

https://www.atcp.org/about-ataxia-telangiectasia/caregiver-resources/chapter-10-general-principles-of-rehabilitation/

Ataxia-telangiectasia heterozygotes (4 times increased risk) * Ashkenazi Jewish descent (2 times greater risk; independent of ...

https://emedicine.medscape.com/article/1945957-overview

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

https://wikidoc.org/index.php/DNA_ligase

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM. OMIM. 208900 ATAXIA-TELANGIECTASIA; AT. 607585 ATAXIA-TELANGIECTASIA MUTATED ... Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, hands, ankles, and feet; began using a wheelchair at age 8 ... Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, hands, ankles, and feet; began using a wheelchair at age 8 ...

https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM13909&PgId=166

Ataxia Telangiectasia (A-T) is an autosomal recessive disorder characterised by cerebellar degeneration, immunodeficiency, respiratory disease, radiosensitivity, and cancer susceptibility. (nottingham.ac.uk)

Ataxia Telangiectasia (AT)-also known as Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, or immunodeficiency with ataxia telangiectasia-is a rare inherited childhood neurological disorder that affects the part of the brain that controls motor movement (intended movement of muscles) and speech. (nih.gov)

For example, in August 2018, the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) launched a five-year project funded by the National Institutes of Health (NIH) to assess the status of clinical trials in the field of Spinocerebellar Ataxias (SCA) and develop novel therapeutics for the treatment of SCA I and SCA II. (reportsanddata.com)

The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. (nih.gov)

Ataxia-telangiectasia: diagnosis and treatment. (nih.gov)
3. Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. (nih.gov)
15. Consequences of the delayed diagnosis of ataxia-telangiectasia. (nih.gov)
20. Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis. (nih.gov)
North America is expected to account for largest revenue share over the forecast period due to an increase in ataxia prevalence, increased government funding for research efforts, and numerous support groups for patient diagnosis and treatment. (reportsanddata.com)

The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals. (nih.gov)
The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. (nih.gov)
O6.4VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein. (ox.ac.uk)
18. Enhanced phosphorylation of transcription factor sp1 in response to herpes simplex virus type 1 infection is dependent on the ataxia telangiectasia-mutated protein. (nih.gov)
In response to ionizing radiation, Chk2 is phosphorylated on threonine 68 (T68) by ataxia-telangiectasia mutated (ATM) protein leading to its activation. (nih.gov)

This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. (nih.gov)
While therapy will not eliminate the coordination problems, ataxia and involuntary movements that are part of A-T, it can minimize or prevent secondary problems such as weakness, poor endurance, and progressive orthopedic deformities of the feet. (atcp.org)

AT is caused by mutations in the ATM (ataxia-telangiectasis mutated) gene. (nih.gov)
Variants (also called mutations) in the ATM gene cause ataxia-telangiectasia. (nih.gov)
5. Ataxia telangiectasia gene mutations in leukaemia and lymphoma. (nih.gov)
17. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. (nih.gov)

Ataxia is caused mostly by hereditary or family genetic causes, as well as acquired ones such as nutritional deficiencies, autoimmune diseases, certain infections, exposure to toxins or drugs (particularly alcohol), and different malignancies. (reportsanddata.com)
Increased patient population with hereditary strains of ataxia, increased awareness of ataxia, and government measures to combat these illnesses are expected to drive revenue growth of the Asia Pacific market over the forecast period. (reportsanddata.com)

When Do Symptoms of Ataxia-telangiectasia Begin? (nih.gov)
Ataxia-telangiectasia has no cure, though treatments might improve some symptoms. (nih.gov)
The rising incidence of ataxia, combined with improved technical developments in medication to treat ataxia symptoms are key factors driving the ataxia treatment market revenue growth. (reportsanddata.com)
Furthermore, many technical breakthroughs in pharmacotherapy to give treatment against ataxia symptoms are driving revenue growth of the market over the forecast period. (reportsanddata.com)

How can I or my loved one help improve care for people with ataxia telangiectasis? (nih.gov)

The inadequacy of essential nutrients in the body is assumed to be a primary cause of ataxia, which is projected to drive revenue growth of the market over the forecast period. (reportsanddata.com)

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. (nih.gov)
6. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (nih.gov)
10. Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. (nih.gov)
If ataxia is a sign of another condition, the doctor will most likely treat that disorder as well. (reportsanddata.com)

Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. (nih.gov)
According to the U.S. National Library of Medicine, ataxia affects 1 in 40,000 to 1,000,000 persons globally. (reportsanddata.com)

The gene for it has now been cloned and sequenced, and there's a great deal of information now about how the gene works and how abnormalities of that gene may play a role in various forms of cancer, not necessarily related directly to ataxia telangiectasia. (nih.gov)

The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood. (nih.gov)
Ataxia is typically caused by injury to the cerebellum (the region of the brain that governs muscle coordination) or its synapses. (reportsanddata.com)

Buckley, Cliona: Variant ataxia telangiectasia with a cavernoma and extensive white matter signal abnormalities. (iicn.ie)

Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. (nih.gov)

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. (nih.gov)

People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. (nih.gov)

Leading market trends include growing ataxia prevalence, fast research in the field of ataxia treatments, and increased partnerships and acquisitions among key competitors. (reportsanddata.com)
Furthermore, increased research in the field of ataxia treatments is likely to propel market growth throughout the forecast period. (reportsanddata.com)

Ataxia-telangiectasia (A-T) is a rare, inherited disease. (nih.gov)
Another disease, ataxia telangiectasia. (nih.gov)
The disease ataxia telangiectasia for example in that era was considered a very obscure disease, a component of immunologic abnormalities, mainly of T-cell abnormalities, neurologic abnormalities, and some other pathophysiologic changes. (nih.gov)

The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. (nih.gov)

This is the first report of spontaneous improvement of angioimmunoblastic T-cell lymphoma in a patient with ataxia-telangiectasia who was 3 years old at presentation. (bvsalud.org)
19. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case]. (nih.gov)

The recent expiration of many medications used to treat symptomatic ataxia along with strict regulatory framework for approval of ataxia medications is putting a strain on revenue growth of the global ataxia treatment market. (reportsanddata.com)

2. Ataxia telangiectasia: a review. (nih.gov)
8. Ataxia-telangiectasia: A review of clinical features and molecular pathology. (nih.gov)
16. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. (nih.gov)

The global ataxia treatment market is expected to register a steady revenue CAGR during the forecast period. (reportsanddata.com)
Ataxia does not have a particular treatment. (reportsanddata.com)
Furthermore, revenue growth of the global ataxia treatment market is hampered due to the lack of a single authorized medicine for the treatment of ataxia. (reportsanddata.com)
This demands the subsequent rise in the treatment of ataxia in the region. (reportsanddata.com)

Spontaneous remission of angioimmunoblastic T-cell lymphoma in a child with ataxia-telangiectasia: a case report. (bvsalud.org)
CASE PRESENTATION A 3-year-old Omani boy was diagnosed with ataxia -talengectasia presenting with fever and generalized lymphadenopathy . (bvsalud.org)

12. Radiosensitivity and oxidative signalling in ataxia telangiectasia: an update. (nih.gov)

The high expense of treating ataxia, along with a shortage of trained health workers, is a major impediment to the global market. (reportsanddata.com)

Ataxia is a neural system degenerative illness that causes movement disorders. (reportsanddata.com)

These major trends are expected to support revenue growth of the worldwide ataxia market. (reportsanddata.com)

Anatomy14

Organisms3

Diseases28

Chemicals and Drugs48

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Phenomena and Processes51

Information Science2

Health Care3

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

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

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

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

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

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

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

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

Ataxia Telangiectasia

Ataxia Telangiectasia Mutated Proteins

Telangiectasis

Telangiectasia, Hereditary Hemorrhagic

Ataxia

Tumor Suppressor Proteins

Cerebellar Ataxia

Cell Cycle Proteins

Protein-Serine-Threonine Kinases

Retinal Telangiectasis

Friedreich Ataxia

DNA-Binding Proteins

DNA Damage

Spinocerebellar Ataxias

Radiation, Ionizing

Checkpoint Kinase 2

DNA Repair

Gait Ataxia

Gamma Rays

Radiation Tolerance

Tumor Suppressor Protein p53

DNA Breaks, Double-Stranded

DNA-Activated Protein Kinase

Epistaxis

Phosphorylation

Pyrones

Activin Receptors, Type II

Arteriovenous Malformations

Histones

Nuclear Proteins

Fibroblasts

Mutation

Dose-Response Relationship, Radiation

Cell Cycle

Nijmegen Breakage Syndrome

Streptonigrin

CREST Syndrome

Cell Line

Protein Kinases

Signal Transduction

G2 Phase

DNA Replication

Chromosome Breakage

Microcephaly

Ultraviolet Rays

Heterozygote

X-Rays

Chromosome Aberrations

Apoptosis

Infrared Rays

Genes, cdc

Nucleic Acid Synthesis Inhibitors

Replication Protein A

Cell Line, Tumor

S Phase

Cell Line, Transformed

DNA Repair Enzymes

Genomic Instability

Cell Survival

Cells, Cultured

Lymphocytes

G2 Phase Cell Cycle Checkpoints

Telomere

Aphidicolin

Telomeric Repeat Binding Protein 2

Mice, Knockout

Iron-Binding Proteins

Cell Cycle Checkpoints

DNA

Phenotype

Cardiac Output, High

Hydroxyurea

Activin Receptors, Type I

Morpholines

Mutation, Missense

Comet Assay

HeLa Cells

Chromosome Disorders

Homozygote

Bleomycin