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.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
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.
The study of the heart, its physiology, and its functions.
A medical specialty concerned with the diagnosis and treatment of SLEEP WAKE DISORDERS and their causes.
The branch of medicine concerned with the evaluation and initial treatment of urgent and emergent medical problems, such as those caused by accidents, trauma, sudden illness, poisoning, or disasters. Emergency medical care can be provided at the hospital or at sites outside the medical facility.
A subspecialty of internal medicine concerned with the study of the physiology and diseases of the digestive system and related structures (esophagus, liver, gallbladder, and pancreas).
A subspecialty of internal medicine concerned with the metabolism, physiology, and disorders of the ENDOCRINE SYSTEM.
A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.
Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)
An independent agency within the Executive Branch of the United States Government. It administers a national social insurance program whereby employees, employers, and the self-employed pay contributions into pooled trust funds. Part of the contributions go into a separate hospital insurance trust fund for workers at age 65 to provide help with medical expenses. Other programs include the supplemental social security income program for the aged, blind, and disabled and the Old Age Survivors and Disability Insurance Program. It became an independent agency March 31, 1995. It had previously been part of the Department of Health, Education, and Welfare, later the Department of Health and Human Services. (From United States Government Manual, 1994-95)
Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Irradiation directly from the sun.
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)
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).
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.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
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.
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Infections that do not exhibit symptoms.
Reflex contraction of a muscle in response to stretching, which stimulates muscle proprioceptors.
A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).

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)

TY - JOUR. T1 - Expression of ATM in ataxia telangiectasia fibroblasts rescues defects in DNA double-strand break repair in nuclear extracts. AU - Li, Yuling. AU - Carty, Michael P.. AU - Oakley, Gregory G.. AU - Seidman, Michael M.. AU - Medvedovic, Mario. AU - Dixon, Kathleen. PY - 2001/1/1. Y1 - 2001/1/1. N2 - Ataxia telangiectasia (A-T) is a human genetic disorder characterized by progressive cerebellar degeneration, hypersensitivity to ionizing radiation (IR), immunodeficiency, and high cancer risk. At the cellular level, IR sensitivity and increased frequency of spontaneous and IR-induced chromosomal breakage and rearrangements are the hallmarks of A-T. The ATM gene, mutated in this syndrome, has been cloned and codes for a protein sharing homology with DNA-PKcs, a protein kinase involved in DNA double-strand break (DSB) repair and DNA damage responses. The characteristics of the A-T cellular phenotypes and ATM gene suggest that ATM may play a role similar to that of DNA-PKcs in DSB repair ...
TY - JOUR. T1 - Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress. AU - Degan, Paolo. AU - dIschia, Marco. AU - Pallardó, Federico V.. AU - Zatterale, Adriana. AU - Brusco, Alfredo. AU - Calzone, Rita. AU - Cavalieri, Simona. AU - Kavakli, Kaan. AU - Lloret, Ana. AU - Manini, Paola. AU - Pisanti, Maria Antonietta. AU - Vuttariello, Emilia. AU - Pagano, Giovanni. PY - 2007/6. Y1 - 2007/6. N2 - Objective: To evaluate an in vivo pro-oxidant state in patients with ataxia telangiectasia (AT). Methods: A set of oxidative stress endpoints were measured in 9 AT homozygotes, 16 AT heterozygotes (parents) and 83 controls (grouped in age ranges as for patients and parents, respectively). The following analytes were measured: (a) leukocyte 8-hydroxy-2′-deoxyguanosine (8-OHdG); (b) blood glutathione (GSSG and GSH); and (c) plasma levels of glyoxal (Glx) and methylglyoxal (MGlx). Results: AT patients displayed a significant decrease in ...
Albany, US) DelveInsight has launched a new report on Ataxia Telangiectasia Pipeline. Ataxia Telangiectasia (AT) Pipeline Insight, 2020 report by DelveInsight outlays comprehensive insights of present clinical development scenario and growth prospects across the Ataxia Telangiectasia (AT) market. A detailed picture of the Ataxia Telangiectasia (AT) pipeline landscape is provided, which includes the disease overview and Ataxia Telangiectasia (AT) treatment guidelines. The assessment part of the report embraces in-depth Ataxia Telangiectasia (AT) commercial assessment and clinical assessment of the Ataxia Telangiectasia (AT) pipeline products from the pre-clinical developmental phase to the marketed phase. In the report, a detailed description of the drug is proffered including mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Ataxia Telangiectasia (AT) collaborations, licensing, mergers and acquisition, ...
TY - JOUR. T1 - DHFR gene amplification in cultured skin fibroblasts of ataxia telangiectasia patients after methotrexate selection. AU - Lücke-huhle, Christine. AU - Hinrichs, Susanne. AU - Speit, Günter. PY - 1987/12. Y1 - 1987/12. N2 - During selection for methotrexate resistance, SV40-transformed human skin fibroblasts from patients with ataxia telangiectasia (A-T) underwent amplification of the dihydrofolate reductase (DHFR) gene, experienced nearly complete loss of the integrated SV40 sequences and showed a 3.6-fold increase in Ki-ras gene copy number. Over a period of months methotrexate-resistant (MTXr) A-T subclones were obtained, which were able to grow in progressively increasing MTX concentrations up to 100 μM. The ED50 values determined as the effective dose of MTX causing 50% growth inhibition in comparison to control cells increased from 3×10-2 μM for MTXs AT5BI-VA cells to 250 μM MTX for the MTXr AX100 subclone. In contrast, human skin fibroblasts of healthy individuals did ...
We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity.. ...
TY - JOUR. T1 - ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. AU - Sasaki, Tomonari. AU - Tian, Huaize. AU - Kukita, Yoji. AU - Inazuka, Masakazu. AU - Tahira, Tomoko. AU - Imai, Takashi. AU - Yamauchi, Masatake. AU - Saito, Toshiyuki. AU - Hori, Tada Aki. AU - Hashimoto-Tamaoki, Tomoko. AU - Komatsu, Kenshi. AU - Nikaido, Osamu. AU - Hayashi, Kenshi. PY - 1998/1/1. Y1 - 1998/1/1. N2 - ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are scarce. In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects. We used a hierarchical strategy in which we extensively analyzed the entire coding region of the cDNA. In the first stage, point mutations were sought by ...
Ataxia-telangiectasia (AT) is a rare progressive neurodegenerative autosomal recessive disorder characterized by cerebellar ataxia, neuromotor dysfunction, oculocutaneous telangiectasia and immunodeficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. Life expectancy does not correlate well with severity of neurological impairment. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. The immunodeficiency of AT patient consists of both humoral defect (immunoglobulin deficiency and reduced response to polysaccharide antigens) and cell-mediated defect (reduced lymphocytes number and function). Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already ...
Ataxia-telangiectasia (AT) is a rare progressive neurodegenerative autosomal recessive disorder characterized by cerebellar ataxia, neuromotor dysfunction, oculocutaneous telangiectasia and immunodeficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. Life expectancy does not correlate well with severity of neurological impairment. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. The immunodeficiency of AT patient consists of both humoral defect (immunoglobulin deficiency and reduced response to polysaccharide antigens) and cell-mediated defect (reduced lymphocytes number and function). Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already ...
Cellular response to DNA damage is critical to maintain genomic stability. When a double-strand break (DSB) occurs, the cell activates its checkpoint machinery to halt cell cycle progression and allow proper DSB repair (1). Without such response and repair, the cell will eventually undergo apoptosis or pass on its altered DNA to daughter cells. Checkpoints are enabled through sensing DNA damage, transducing damage signals, and activating effectors. Mechanisms by which DNA damage signals are initiated have begun to be revealed (1, 2) . PI-3-like kinases, including ataxia-telangiectasia mutated (ATM), ATM and Rad3-related (ATR), and DNA-PK are believed to play central roles (3). ATM is mutated (lost or inactivated) in the human genetic disorder ataxia-telangiectasia and could be the primary kinase responsible for DSB signaling transduction. Structural chromatin changes activate ATM, which then phosphorylates itself (4). Activated, autophosphorylated ATM in turn phosphorylates the checkpoint ...
Our experimental results establish that tissues from Atm-deficient mice are under oxidative stress and suffer oxidative damage. We and others have identified defects in molecular pathways that lead to abnormalities in the response of cells to ionizing radiation, meiosis, and T cell development where DNA double-strand breaks occur (1, 3-5, 20-23). In addition, several reports have implicated ATM as a serine protein kinase that phosphorylates p53 and chk2, leading to cell cycle arrest after ionizing radiation (24-27). Why would defects in these pathways result in oxidative stress, especially in the adult brain? The majority of cells in the central nervous system are postmitotic and there is no evidence of DNA recombination or significant DNA double-strand breaks in the central nervous system in the absence of ionizing radiation. We infer that ATM also functions to protect biomolecules other than DNA from oxidative damage. Studies from many investigators have established that lipids and proteins ...
Cancer rates were significantly higher in the group of blood relatives than in their spouses, specifically in the subgroup of 294 blood relatives who were known to be heterozygous for the ataxia-telangiectasia gene. The estimated risk of cancer of all types among heterozygotes as compared with noncarriers was 3.8 in men and 3.5 in women, and that for breast cancer in women was 5.1. Among the blood relatives, women with breast cancer were more likely to have been exposed to selected sources of ionizing radiation than controls without cancer (odds ratio = 5.8, P = 0.005). Male and female blood relatives also had 3-fold and 2.6-fold excess mortality from all causes, respectively, from the ages of 20 through 59 years. Conclusions: ...
TY - JOUR. T1 - Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. AU - Nakayama, Tojo. AU - Sato, Yuko. AU - Uematsu, Mitsugu. AU - Takagi, Masatoshi. AU - Hasegawa, Setsuko. AU - Kumada, Satoko. AU - Kikuchi, Atsuo. AU - Hino-Fukuyo, Naomi. AU - Sasahara, Yoji. AU - Haginoya, Kazuhiro. AU - Kure, Shigeo. PY - 2015/3/1. Y1 - 2015/3/1. N2 - Background: Ataxia telangiectasia (A-T) is a common inherited cause of early childhood-onset ataxia, distinguished by progressive cerebellum malfunction, capillary vessel extension, and immunodeficiency. The diagnosis of A-T is sometimes difficult to establish in patients with atypical clinical evolution. Case report: We experienced a pediatric 12-years-old female patient, who was finally diagnosed with classic A-T, demonstrating progressive dystonic-myoclonic axial jerks with ataxia as a predominant clinical feature. Oculocutaneous telangiectasias and immune status were unremarkable. Her myoclonic jerks were spontaneous or ...
The Ataxia-telangiectasia mutated (ATM) gene encodes a multifunctional kinase, which is linked to important cellular functions. Women heterozygous for ATM mutations have an estimated relative risk of developing breast cancer of 3.8. However, the pattern of ATM mutations and their role in breast cancer etiology has been controversial and remains unclear. In the present study, we investigated the frequency and spectrum of ATM mutations in a series of sporadic breast cancers and controls from the Brazilian population. Using PCR-Single Strand Conformation Polymorphism (SSCP) analysis and direct DNA sequencing, we screened a panel of 100 consecutive, unselected sporadic breast tumors and 100 matched controls for all 62 coding exons and flanking introns of the ATM gene. Several polymorphisms were detected in 12 of the 62 coding exons of the ATM gene. These polymorphisms were observed in both breast cancer patients and the control population. In addition, evidence of potential ATM mutations was observed in 7
Ataxia Telangiectasia & Immunoglobulin M Decreased Symptom Checker: Possible causes include Ataxia Telangiectasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Read stories about Ataxia Telangiectasia on Medium. Discover smart, unique perspectives on Ataxia Telangiectasia and the topics that matter most to you like care coordination, cscw2019, eltern, healthcare, and hoffnung.
Synonyms for Ataxia-telangiectasia in Free Thesaurus. Antonyms for Ataxia-telangiectasia. 3 synonyms for ataxia: ataxy, dyssynergia, motor ataxia. What are synonyms for Ataxia-telangiectasia?
Yosef Shiloh, a David and Inez Myers professor in cancer research at Tel Aviv Universitys Sackler Faculty of Medicine, was selected to receive the 2011 Israel Prize, Israels most distinguished national honor. The prize is awarded by the Israeli Ministry of Education to Israeli citizens who have demonstrated excellence in their chosen profession. Earlier this year Shiloh was the first Israeli to receive the 51st annual G.H.A. Clowes Award from the American Association for Cancer Research. He was honored for his studies on the cellular DNA damage response and the rare genomic instability syndrome ataxia-telangiectasia.. Shiloh has been investigating ataxia-telangiectasia and the defect in the DNA damage response that leads to this disease for more than 30 years. He revolutionized the field when his lab identified the ataxia-telangiectasia gene in 1995 and successfully cloned it, calling it ataxia-telangiectasia mutated. The identification of the ATM gene opened many new avenues of inquiry and ...
Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia A-T Patients Using a LC-MS-Based Label-Free Protein Quantification Technology. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to ionizing radiation (IR), atherosclerosis, diabetes, and cancers. We used SMC1pSer966 (pSMC1) in-cell colorimetric ELISA to diagnosis and screen in A-T families.Materials and Methods: With informed consent, 2cc peripheral blood was collected from the 15 A-T patients, their parents, and 24 healthy controls with no family history of malignancy, diabetes, and atherosclerosis. Extracted peripheral blood mononuclear cells (PBMCs) were cultured in poly-L-Lysine treated 96-well plate with density of 70,000 cells per well. SMC1 phosphorylation was evaluated with cell-based ELISA kit 1 hour after 5 Gy IR and the pSMC1data
In a critical process known as the DNA damage checkpoint, cells monitor their DNA for damage and halt cell division until the damage has been repaired. Kondo et al. (p. 867) now show that two yeast proteins that function in signaling that DNA damage has occurred actually bind close to the site of damage, but do so in distinct ways. They used a chromatin immunoprecipitation method to detect proteins that bound to double-stranded break in the DNA resulting from continuous expression of the HO endonuclease. One of the proteins bound, Mec1, belongs to a family of protein kinases that includes the ATM protein mutated in the human disease ataxia telangiectasia. Another protein bound at the site of damage was Ddc1, itself thought to be a DNA-binding protein that may recruit other proteins to a complex formed at the damage site. Recruitment of Ddc1, but not that of Mec1, required the action of another participant in the checkpoint pathway, called Rad24. The results help clarify how cells recognize ...
Metabolic syndrome is associated with insulin resistance and atherosclerosis. Here, we show that deficiency of one or two alleles of ATM, the protein mutated in the cancer-prone disease ataxia telangiectasia, worsens features of the metabolic syndrome, increases insulin resistance, and accelerates a …
Ravi, Srimadhavi; Barui, Sugata and Kirubakaran, Sivapriya, Targeting the Ataxia Telangiectasia Mutated (ATM) kinase for alleviating cancer, in the 68th Gordon Research Conference for Natural Products and Bioactive Compounds, Proctor Academy, Andover, NH, US, Jul. 28- Aug. 2, 2019 ...
Ataxia Telangiectasia (A-T) - Action for A-T funds high quality peer reviewed medical research to speed up the process of identifying a cure for A-T.
A fact sheet about ataxia telangiectasia (A-T), a rare, recessive genetic disorder of childhood that occurs in between one out of 40,000 and one out of 100,000 persons worldwide.
Falck et al. have made progress in defining the molecular mechanism underlying the S-phase checkpoint activated by ionizing radiation (IR). IR caused rapid, transient degradation of the phosphatase Cdc25A (which dephosphorylates and activates cyclin-dependent kinase 2) in mammalian cells by a mechanism dependent on the catalytic activity and the ability of the kinase Chk2 to interact with and phosphorylate Cdc25A. Furthermore, the degradation of Cdc25A in response to IR occurred in cells with normal and mutated versions of the tumor suppressor p53, confirming the independence of this S-phase checkpoint on the p53 pathway. However, in cells from patients with ataxia telangiectasia with mutations in the ATM gene, Cdc25A persisted after IR, and the cells exhibited radioresistant DNA synthesis. Thus, IR appears to activate a pathway from ATM to Chk2, which then phosphorylates Cdc25A leading to its destruction and a transient block in the progress of the S phase of the cell cycle. J. Falck, N. ...
Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents repair of broken DNA, increasing the risk of cancer. Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age, they develop difficulty moving their eyes in a natural manner from one place to the next (oculomotor ...
Ataxia Telangiectasia is a progressive degenerative disease which affects various systems of the body. First signs of the disease usually appear during the second year of life.
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Introduction The ataxia-telangiectasia mutated (ATM) gene (MIM Identification 208900) encodes a proteins kinase Igf1 Everolimus that has a significant function in the activation of cellular replies to DNA double-strand breaks through subsequent phosphorylation of central players in the DNA damage-response pathway. for breasts cancers remain unresolved. SOLUTIONS TO investigate the function of ATM in BC susceptibility we examined 76 uncommon sequence variations in the ATM gene within a case-control family members research of 2 570 situations of breasts cancers and 1 448 handles. The variations had been grouped into three types predicated on their most likely pathogenicity as dependant on in silico evaluation and examined by conditional logistic regression. Most likely pathogenic sequence variations had been genotyped in 129 family of 27 carrier probands (15 which transported c.7271T > G) and improved segregation analysis was utilized to estimation the BC penetrance connected with these uncommon ...
Initial presentation usually is neurologic as evidenced by problems with development of walking, oculomotor abnormalities, and progressive neurologic disability. Risk of recurrent aspiration of oral secretions. In addition to telangiectasia, vitiligo, café-au-lait spots, and premature graying may be present. Absence of secondary sexual characteristics in females. Elevated liver enzymes associated with fatty infiltration of the liver. Ataxia telangiectasia patients are at increased risk for developing malignancies, particularly lymphoma and leukemia in children and gastric carcinoma in adults. Chronic respiratory infections and bronchiectasis, unresponsive to antibiotics, are frequently the ultimate cause of death. Unusual to survive beyond the third decade. ...
The effect of ataxia-telangiectasia mutated kinase-dependent hyperphosphorylation of checkpoint kinase-2 on oligodeoxynucleotide 7909 containing CpG motifs-enhanced sensitivity to X-rays in human lung adenocarcinoma A549 cells Xiaoqun Liu,1,* Xiangdong Liu,2,* Tiankui Qiao,1 Wei Chen,1 Sujuan Yuan1 1Department of Oncology, 2Department of Ophthalmology, Affiliated Jinshan Hospital, Fudan University, Shanghai, People’s Republic of China *These authors contributed equally to this work Objective: The aim of the study reported here was to further investigate the potential effect of ataxia-telangiectasia mutated (ATM) kinase-dependent hyperphosphorylation of checkpoint kinase-2 (Chk2) on radiosensitivity enhanced by oligodeoxynucleotide 7909 containing CpG motifs (CpG ODN7909) in human lung adenocarcinoma A549 cells. Methods: In vitro A549 cells were randomly separated into control, CpG, X-ray, CpG+X-ray, ATM kinase-small interfering RNA (siRNA)+CpG+X-ray (ATM-siRNA), and Chk2-siRNA+CpG+X-ray
A coded analysis of X-ray-induced chromatid aberrations in lymphocyte cultures from 45 control individuals and 19 ataxia-telangiectasia (A-T) heterozygotes was performed. The distribution of chromatid breaks induced in the late G2 portion of the cell cycle by 60 cGy of X-rays appeared bimodal in the study population. In six controls (13 percent) and in 12 of 19 (63 percent) A-T heterozygotes, the
Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew-shaped blood vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin; immunodeficiency involving both humoral (B-lymphocytes) and cellular (T-lymphocytes) immunity; and a high rate of cancer.
Methuselah Co., set up in Yamagata in June 2016, has developed technology to produce autologous fibroblast cells, a cell type which which can be blended with other functional cells to develop regenerative medicine of various types.. BioImpact news release, July 7, 2016. ...
Several immunological abnormalities have been observed in ataxia-telangiectasia (AT), the most consistent being defects of immunoglobulin isotypes, decreased T-cell numbers, and reduced proliferative...
The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. The authors previously found that nuclear accumulation of histone deacetylase-4, HDAC4, contributes to this degeneration; they now report that increased trimethylation of histone H3 on Lys27 (H3K27me3) mediated by polycomb repressive complex 2 is also important in the A-T phenotype. [Nat Neurosci ...
An inherited (autosomal recessive) neurological disorder. Ataxia is usually noted early in life, and a key feature is the presence of dilated blood vessels visible in the sclerae of the eyes and on the cheeks and ears. Other symptoms may include slow slurred speech, abnormal eye movements, skin lesions, and immune deficiency. Affected individuals may develop malignant disease. A raised level of alpha-fetoprotein is found in the blood. ...
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Ceralasertib is a potent and selective ATP competitive inhibitor of ataxia telangiectasia and Rad3 related (ATR) in clinical development as monotherapy and in combination with olaparib (Lynparza) and durvalumab (Imfinzi) in patients with advanced solid tumors. Paired pre- and on-treatment tumour samples from seven patients during ceralasertib monotherapy in Phase 1 studies (NCT02223923, NCT02264678), all ATM expressing, showed increases in pRAD50 on treatment. This study aimed to robustly understand the relationship between ceralasertib pharmacokinetics, pRAD50 (pSer635) induction by immunohistochemistry and anti-tumor efficacy, in mouse xenografted models; to enable interpretation of paired clinical tumour samples. First, in vivo data were generated in a range of xenografted models (HBCx9 [TNBC, Xentech], HCC1806 [BC], OCI-Ly19 [DLBCL] and OE21 [HNSCC]) and NSCLC and HNSCC PDX models at Champions). Mouse ceralasertib doses (6.25 - 25mg/kg BID and 50mg/kg QD) reflected the observed free drug ...
TY - JOUR. T1 - Apurinic DNA endonuclease activities in repair-deficient human cell lines. AU - Moses, Robb. AU - Beaudet, Arthur L.. PY - 1978/2. Y1 - 1978/2. N2 - Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma pigmentosum (complementation group D), Cockayne dwarfism, Fanconi anemia and Bloom syndrome.. AB - Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived ...
TY - JOUR. T1 - Dbf4 is direct downstream target of ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) protein to regulate intra-S-phase checkpoint. AU - Lee, Alan Yueh Luen. AU - Chiba, Takuya. AU - Truong, Lan N.. AU - Cheng, An Ning. AU - Do, Johnny. AU - Cho, Michael Jeffrey. AU - Chen, Longchuan. AU - Wu, Xiaohua. N1 - Copyright: Copyright 2012 Elsevier B.V., All rights reserved.. PY - 2012/1/20. Y1 - 2012/1/20. N2 - Dbf4/Cdc7 (Dbf4-dependent kinase (DDK)) is activated at the onset of S-phase, and its kinase activity is required for DNA replication initiation from each origin. We showed that DDK is an important target for the S-phase checkpoint in mammalian cells to suppress replication initiation and to protect replication forks. We demonstrated that ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) proteins directly phosphorylate Dbf4 in response to ionizing radiation and replication stress. We identified novel ATM/ATR ...
Salt Lake City - Recursion Pharmaceuticals, an emerging biotech company today announced receipt of a research award from the A-T Childrens Project, which seeks to support research for the disease ataxia-telangiectasia.. Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks children, causing progressive loss of muscle control, immune system problems, and a high rate of cancer. The award will be used to support Recursions efforts to build a many-dimensional cellular model of the disease to be used in future drug screening efforts.. Chris Gibson, Ph.D., CEO of Recursion Pharmaceuticals remarked: We are grateful to the A-T Childrens Project for this award which will enable us to rapidly deploy our innovative drug discovery technology towards Ataxia-telangiectasia. As a young company, the support and trust of foundations like the A-T-Childrens Project is critical to our ability to apply our technology across as many diseases as possible.. Recursions technology, which combines ...
TY - JOUR. T1 - Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia. T2 - Review of the literature. AU - Hummel, Jennifer M.. AU - Thorland, Erik C. AU - Lim, Megan S.. PY - 2010. Y1 - 2010. N2 - Ataxia telangiectasia (A-T) is a rare genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, and radiation sensitivity (Peterson et al. Lancet 283:1189-1193, 1964; Boder and Sedgwick Pediatrics 21:526-554, 1958; Taylor et al. Nature 258:427-429, 1975). Compared to the general population, patients with primary immunodeficiencies such as A-T have an increased rate of malignancy and an earlier age at presentation (Loeb et al. J Pediatr Hematol/Oncol 22:464-467, 2000; Taylor et al. Blood 87:423-438, 1996). We report the clinical, histopathologic, and molecular features of a 6-year-old child who presented with EBV-positive Hodgkin lymphoma (HL), which led to the diagnosis of ataxia ...
View more ,Ataxia Telangiectasia is a progressive neurodegenerative disorder caused by mutations in the ataxia telangiectasia mutated (atm) gene. Nuclear ATM has a well established role in response to DNA damage, however ATM has also been localized outside the nucleus where it has been demonstrated to participate in the insulin signalling pathway by phosphorylating eIF-4E binding protein(4EBP1). 4EBP1 is a target of Mammalian target of Rapamycin (mTOR) and its phosphorylation releases it from eIF-4E enabling translation of mRNA and protein synthesis. The Tuberous Sclerosis Complex (TSC) proteins, hamartin (TSC1) and tuberin (TSC2) act as a heterodimer to regulate mTOR activity. mTOR exists as two complexes, mTORC1 (rapamycin sensitive) and mTORC2 (insensitive to short term rapamycin). These complexes control many cellular functions including protein synthesis, autophagy, lipid metabolism, mitochondrial biogenesis and cytoskeletal organisation. Mutations in either of the TSC1 or TSC2 genes lead ...
The kinase ATM is classically known for its role in coordinating the response to DNA damage. DNA damage is caused by various intracellular and extracellular stimuli, including oxidative stress and free radicals. Lee et al. found critical amino acid residues that enable ATM to coordinate a response to DNA damage that is independent of its response to oxidative stress. Activation of ATM by either pathway promoted mitochondrial function and autophagy, thus mediating cell survival through metabolic changes. ATM activation via oxidative stress additionally promoted the clearance of toxic protein aggregates. These findings expand the roles of ATM and suggest that the loss of ATM function, such as in the neurodegenerative disease ataxia telangiectasia (A-T), causes broader cellular stress than that limited to a defective DNA damage response. ...
Minnie Geller Professor. research • lab members • publications. Google Scholar Profile. Representative Publications:. Strand, M., Prolla, T. A., Liskay, R. M. and Petes, T. D. (1993). Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-276.. Fan, Q.-Q., Xu, F. and Petes, T. D. (1995). Meiosis-specific double-strand DNA breaks at the HIS4 recombination hotspot in the yeast Saccharomyces cerevisiae. Mol. Cell. Biol. 15:1679-1688.. Greenwell, P. W., Kronmal, S. L., Porter, S. E., Gassenhuber, J., Obermaier, B., and Petes, T. D. (1995).TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell 82:823-829.. Kirkpatrick, D. and Petes, T. D. (1997). Repair of DNA loops involves DNA mismatch and nucleotide excision repair proteins. Nature 387:929-931.. Moore, H., Greenwell, P. W., Liu, C.-P., Arnheim, N., and Petes, T. D. (1999). Triplet repeats form secondary ...
Mutations in the ATM gene have previously been identified in CLL tumours. In this project, I have demonstrated that their detection would have prognostic value. With a prevalence of 12%, ATM mutations represent the commonest single gene defect to be detected in CLL tumours and they identified a subgroup of CLL patients that had a significant reduction in both treatment free and overall survival. Furthermore, ATM mutations provided prognostic information that was independent of age, clinical stage, the mutation status of the IGVH genes and TP53 mutations. The temporal acquisition of the ATM mutations and their relationship with loss of an ATM allele via a chromosomal 11q deletion provides clues into their mechanism of action. There was only a partial correlation between CLL tumours with mutations in the ATM gene and those with a chromosome 11q deletion. In certain cases, the ATM mutations represented germ-line changes and in others were acquired very early in the disease course raising the ...
Definition of ataxia telangiectasia syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Ataxia-telangiectasia (A-T) is a rare, autosomal recessive human disorder characterized by cerebellar ataxia, immunodeficiency, cancer predisposition, recurrent...
Different excellence centers in Italy and in the world are involved in research projects aimed to define the role of ATM protein in the AT physiopathology the ATM protein. To know the mechanisms that lead to neurodegeneration as a result of the lack of ATM and basilar protein to understand the symptoms of the patients with AT and to propose new therapeutic strategies. ANAT finances for years the following research projects:. In the last years it was proposed that ATM protein is involved in defense mechanisms to oxidative stress and in metabolism.. Projects title: The role of ATM in the control of cellular metabolism Scientific responsible: Doc. Vincenzo Costanzo. Host institute: IFOM, FIRC Institute of Molecular Oncology (Milan). The molecular basis of corticosteroids efficiency in the improvement of neurological symptoms at patients with AT are still research objects.. Project title: Corticosteroids for patients with Ataxia Telangiectasia (AT): the dexamethasone effect on AT cells activity ...
DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that affects between 1 in 40,000 to 1 in 100,000 individuals worldwide. It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. In addition, patients also exhibit a number of other clinical symptoms including increased susceptibility to cancer (lymphomas, leukemia, brain tumors), immunodeficiency, insulin-resistant diabetes, chromosomal instability, sensitivity to ionizing radiation, susceptibility to bronchopulmonary disease, and the absence, or almost complete absence, of a thymus. Current treatments for A-T are directed toward the management of symptoms. Physical and speechtherapy can improve the lives of patients, and -globulin injections can be given to support the immune system. However, no treatment is directed at the underlying defect. Consequently, A-T remains a fatal disease. The development of improved ...
We use human primary fibroblasts for comparing plasma and gamma rays induced DNA damage. In both cases, DNA strand breaks occur, but of fundamentally different nature. Unlike gamma exposure, contact with plasma predominantly leads to single strand breaks and base-damages, while double strand breaks are mainly consequence of the cell repair mechanisms. Different cell signaling mechanisms are detected confirming this (ataxia telangiectasia mutated - ATM and ataxia telangiectasia and Rad3 related - ATR, respectively). The effective plasma doses can be tuned to match the typical therapeutic doses of 2 Gy. Tailoring the effective dose through plasma power and duration of the treatment enables safety precautions mainly by inducing apoptosis and consequently reduced frequency of micronuclei. ...
R. John Davenport http://sageke.sciencemag.org/cgi/content/abstract/sageke;2001/9/nw35 Key Words: genomic instability ATR ATM Ataxia telangiectasia DNA repair double-strand breaks RAD26 DDC2. Abstract: In eukaryotic cells, protein sentries ensure that the genome is complete before cell division proceeds. When DNA is damaged or its replication machinery conks out, the genome guardians attach phosphate groups to other proteins; this chemical addition triggers these proteins to bring the cell cycle to a halt and activate DNA repair machinery. A breakdown in this system can impair health: People with a defective copy of the gene for one of those proteins--called ATM--suffer from a disorder known as ataxia telangiectasia (see Transgenic Mouse Entries: tg1, tg2, and tg3). Symptoms of the disorder include neuronal degeneration, weakened immunity, and increased risk of cancer. Although scientists know a fair amount about ATM, key information is missing about the activities of a related ...
ATM has been shown to have important roles in the transcriptional regulation of gene expression by phosphorylation of transcription factors, such as p53, nuclear factor κB, E2F, cyclic AMP-responsive element binding protein, and BRCA1, and in maintenance of the normal functions of IGF-IR and telomeres (3, 13, 14, 32). ATM-dependent gene expression has been systematically studied by comparing cell lines from normal individuals and AT patients, isogenic cell lines with restoration of ATM in AT cells or small interfering RNA knockdown of ATM in wild-type cells, and ATM+/+/ATM−/− mice (3, 13, 21-23). More than 300 genes have been reported to display ATM-dependent expression although few genes were commonly identified in two or more experiments. The microarray results presented here identified 160 genes or expressed sequence tags (∼1% of the total on the array) that were differentially expressed in normal and AT fibroblast lines under basal growth conditions, of which about half were ...
In previous research, we have demonstrated that tobacco smoke condensate (CSC), a surrogate for tobacco smoke, is with the capacity of changing the spontaneously immortalized human being breasts epithelial cell line, MCF10A. and is recognized as a marker for improved tumor quality 105628-72-6 and nodal metastasis (Olopade gene appearance in MCF10A cellular material. Our results recommend, for the very first time to our understanding, that C/EBP binds the promoter and induces its activity in MCF10A cellular material in response CSC treatment. Outcomes CSC treatment induces bcl-xl mRNA and proteins amounts in MCF10A cellular material To look for the aftereffect of CSC treatment on gene amounts, we treated MCF10A cellular material with increasing levels of CSC for 24 h and mRNA amounts had been assessed by RT-PCR (Fig. 1A). In these cellular material after normalization with mRNA, the mRNA appearance slightly reduces at lower concentrations (2.5 g/mL) and improves at higher concentrations of CSC ...
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Ataxia telangiectasia (A-T) is a rare, recessive, neurodegenerative disease, with symptoms that normally appear in early childhood. Initial indications are usually ataxia (a lack of muscle control leading to loss of balance and coordination) and telangiectasia (tiny red veins, which are most noticeable on the whites of the eyes). The most serious clinical problem is loss of Purkinje cells, leading to degeneration of the cerebellum (the bodys motor control centre). About 70% of sufferers also have thymic hypoplasia and a compromised immune system. Patients are also highly sensitive to X-irradiation and are susceptible to malignant tumors. Currently, there is no cure, nor any treatment that halts the progression of the disease.. A-T is caused by mutation of the ATM gene, which encodes a ubiquitous 370-kD serine-threonine kinase that is essential for normal repair of double-stranded DNA breaks; loss of ATM function results in DNA instability. However, there are atypical cases of A-T in which ATM ...
Introduction Mutations affecting p53 or its upstream activator Chk2 are associated with resistance to DNA-damaging chemotherapy in breast cancer. ATM (Ataxia Telangiectasia Mutated protein) is the key activator of p53 and Chk2 in response to genotoxic stress. Here, we sought to evaluate ATMs potential role in resistance to chemotherapy. Methods We sequenced ATM and assessed gene expression levels in pre-treatment biopsies from 71 locally advanced breast cancers treated in the neoadjuvant setting with doxorubicin monotherapy or mitomycin combined with 5-fluorouracil. Findings were confirmed in a separate patient cohort treated with epirubicin monotherapy. Each tumor was previously analyzed for CHEK2 and TP53 mutation status. Results While ATM mutations were not associated with chemo-resistance, low ATM expression levels predicted chemo-resistance among patients with tumors wild-type for TP53 and CHEK2 (P = 0.028). Analyzing the ATM-chk2-p53 cascade, low ATM levels (defined as the lower 5 to 50% ...
About 1.4% of the general population are heterozygous carriers of the gene for ataxiatelangiectasia (A-T), an autosomal recessive progressive neurologic syndrome in which cancer incidence of homozygotes is approximately 100-fold greater than the general populations rates. The hypothesis that A-T he …
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Abstract Leukemia cells rely on two nucleotide biosynthetic pathways, de novo and salvage, to produce dNTPs for DNA replication. Here, using metabolomic, proteomic, and phosphoproteomic approaches, we show that inhibition of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces the output of both de novo and salvage pathways by regulating the […]. ...
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Hello, I just found out that I am K01a-T195C! Can anyone explain this classification for me?Am I just K1a or should there be more? What does the T195C! mutation mean?
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 ...
... the ataxia telangiectasia service; services for patients with pulmonary fibrosis, vasculitis, and rare diseases including ...
1996). "Accelerated telomere shortening in ataxia telangiectasia". Nat. Genet. 13 (3): 350-353. doi:10.1038/ng0796-350. PMID ...
"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 ...
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: ...
Mutations of Mre11 can precipitate ataxia-telangiectasia-like disorder. V(D)J recombination involves opening stem-loops ...
He had been suffering for many years of Ataxia telangiectasia. She also came out some time later as a lesbian. She has made a ...
"Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences". The American Journal of Human ...
Mutations in MRE11 have been identified in patients with an ataxia-telangiectasia-like disorder (ATLD). Mutations in RAD50 have ... Kuroda, S; Urata, Y; Fujiwara, T (2012). "Ataxia-telangiectasia mutated and the Mre11-Rad50-NBS1 complex: promising targets for ... "The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder". Cell. 99 ...
"Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient". PLOS Medicine. 6 (2 ...
... increased phosphorylation of ataxia telangiectasia mutated (ATM), checkpoint kinase 1 (Chk 1), Chk 2; and reduced cell division ...
Castillo P, Bogliolo M, Surralles J (2011). "Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in ...
This includes ataxia-telangiectasia, Chédiak-Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco-Sjögren ...
Increased serum levels in adults are also seen in acute hepatitis, colitis and ataxia telangiectasia. Increased serum levels of ...
"N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved 2019- ... and ataxia-telangiectasia. IntraBio is also investigating acetylleucine for the treatment of common inherited and acquired ... Acetylleucine is a modified amino acid used in the treatment of vertigo and cerebellar ataxia. Acetylleucine is also being ...
Ataxia telangiectasia mutated kinase (ATM kinase)[edit]. ATM kinase, a member of the PI3-like family of serine/threonine ...
Other areas of research include hereditary diffuse gastric cancer, small cell carcinoma of the ovary and Ataxia Telangiectasia ...
Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal cell death in ... These are ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia 2 (AOA2), and ataxia telangiectasia. ... Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, ... Ataxia-oculomotor apraxia type 2 (AOA2), also known as spinocerebellar ataxia with axonal neuropathy type 2, has its onset ...
The inherited neurological disorders Machado-Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive ... "NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page". National Institutes of Health. 16 April 2014. ... This complex of motor symptoms is called ataxia. To identify cerebellar problems, neurological examination includes assessment ... Ataxias. 2: 2. doi:10.1186/s40673-015-0023-1. PMC 4552302. PMID 26331045. Schmahmann JD, Sherman JC (April 1998). "The ...
"Cell-surface expression of transrearranged Vgamma-cbeta T-cell receptor chains in healthy donors and in ataxia telangiectasia ...
The human ATM gene is responsible for the human autosomal-recessive disorder ataxia-telangiectasia and is located on chromosome ...
These include ataxia-telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, ...
ATR, which stands for Ataxia telangiectasia and Rad3 related, regulates how cells respond to stress and can help promote DNA ...
Ataxia Telangiectasia and other conditions.[citation needed] In addition to raising money for rehabilitative services for their ...
In the presence of ionizing radiation (IR), the Smc1 subunit of cohesin is phosphorylated by the ataxia telangiectasia mutated ...
... ataxia-telangiectasia, and viral meningoencephalitis. Measurement of T cell receptor excision circles during newborn screening ...
Examples include ataxia telangiectasia - which is a mutation in the damage response kinase ATM - and BRCA1 or MRN complex ... However, chromosomal instability syndromes such as Bloom syndrome, ataxia telangiectasia and Fanconi anaemia are inherited and ... ataxia telangiectasia fibroblast and Bloom's syndrome lymphoblastoid cell lines as detected by conventional cytogenetic ...
T-Lymphocytic Leukemia with or without ataxia telangiectasia has been associated with inversions and tandem translocations of ... involving chromosome 14q11 and 14q32 in T-prolymphocytic leukemia and T-cell leukemias in patients with ataxia telangiectasia ...
X-linked lymphoproliferative disease (XLP) Ataxia-telangiectasia Secondary immune deficiencies AIDS An allergy is an abnormal ...
... and ataxia telangiectasia-mutated (ATM) most involved in repairing DSBs to the more versatile Rad3-related (ATR). ATR is ... while ATM mutations cause the severe disorder ataxia-telangiectasia leading to neurodegeneration, cancer, and immunodeficiency ... Friedrich's ataxia, and spinocerebellar ataxias. During replication, usually DNA polymerases are unable to go past the lesioned ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Ataxia telangiectasia mutated,[58]. *BARD1,[59]. *BRCA1,[59][60][61][62]. *BRCA2,[52][59][60][63][64][65][66][67][68][69][70][ ...
Ataxia-telangiectasia). peripheral: Purine nucleoside phosphorylase deficiency *Hyper IgM syndrome (1). Severe combined. (B+T) ...
Ataxia telangiectasia. بیماری‌های نورون حرکتی. *نورون حرکتی فوقانی فقط: *Primary lateral sclerosis ...
Nuclear protein Ataxia-Telangiectasia (NPAT), also known as nuclear protein coactivator of histone transcription, is a ...
Inherited immune deficiency - severe combined immunodeficiency, common variable immune deficiency, ataxia-telangiectasia, ...
Wiskott-Aldrich syndrome DNA repair defects not causing isolated SCID: ataxia-telangiectasia, ataxia-like syndrome, Nijmegen ...
Poor balance or coordination due to cerebral ataxia.[5]. *Eye defects such as coloboma or ptosis.[10] ... TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia). *TGFBR1/TGFBR2 (Loeys-Dietz syndrome) ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Ataxia telangiectasia mutated. *mTOR. *EIF-2 kinases *PKR. *HRI. *EIF2AK3. *EIF2AK4. *Wee1 *WEE1 ...
ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D). *CD81 ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
This patient presented with progressive dementia, ataxia and incontinence. A clinical diagnosis of normal pressure ... Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Ataxia-telangiectasia). peripheral: Purine nucleoside phosphorylase deficiency *Hyper IgM syndrome (1). Severe combined. (B+T) ...
Neuropathy, ataxia, and retinitis pigmentosa. References[edit]. *^ a b c d e f g h i j k l m n o p q "Leigh syndrome". Genetics ... Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control ... Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
... ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X- ... See also: Cerebellar ataxia. The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum.[2] The ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ... of ataxias of unknown origin and 15% of all ataxias.[31] Less than 10% of people with gluten ataxia present any ...
Identical twin with ALL, Down syndrome, Fanconi anemia, ataxia telangiectasia, Klinefelter syndrome, high birth weight, ... ataxia-telangiectasia, paroxysmal nocturnal hemoglobinuria, and Li-Fraumeni syndrome.[13] Fewer than 5% of cases are associated ...
Ataxia telangiectasia. *Incontinentia pigmenti. *Peutz-Jeghers syndrome. *Encephalocraniocutaneous lipomatosis. *v. *t. *e ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
It is then distinguished by the development of myoclonus as well as seizures and ataxia in some cases.[20] ... Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Gall gwrthimiwnedd nad yw'n fwriadol ddigwydd mewn, er enghraifft, ataxia-telangiectasia, sawl math o ganser, a heintiau cronig ...
Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Ataxia telangiectasia. *De Barsy syndrome. *PIBI(D)S syndrome. *BIDS syndrome. *Marfanoid-progeroid-lipodystrophy syndrome ... telangiectasia; and malignancies.[3][9] In fact, the prevalence of rare cancers, such as meningiomas, are increased in ...
Mental retardation arachnodactyly hypotonia telangiectasia. *Mental retardation athetosis microphthalmia. *Mental retardation ... Luteinizing hormone releasing hormone, deficiency of with ataxia. *Lutz Richner Landolt syndrome ...
ataxia (Poor coordination / unsteady walking). A variant with combined features of MSA and Lewy body dementia may also exist.[ ... characterized by progressive ataxia (an inability to coordinate voluntary muscular movements) of the gait and arms and ... MSA with cerebellar features (MSA-C). MSA-C is defined as MSA where cerebellar ataxia predominates. It is sometimes termed ... Other common signs at onset include problems with balance (cerebellar ataxia) found in 22% at first presentation, followed by ...
Unlike ataxia, which affects the quality of voluntary movements, or Parkinsonism, which is a hindrance of voluntary movements, ... the spinocerebellar ataxias type 1, 3 and 17, neuroacanthocytosis, dentatorubral-pallidoluysian atrophy (DRPLA), brain iron ... accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia, mitochondrial disease and Rett ... Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Clinically, vitamin E deficiency causes a sensory peripheral neuropathy, ataxia, retinitis pigmentosa, and skeletal and cardiac ... Lateral corticospinal tract dysfunction produces spasticity and dorsal spinocerebellar tract dysfunction causes ataxia. ... Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...
Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... These include: Ataxia oculomotor apraxia type 1 (AOA1) Ataxia oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia ... Most often the ataxia appears between 10 and 15 years of age, and differs from A-T by the absence of telangiectasia and ... Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be ...
Ataxia telangiectasia and Rad3 related has been shown to interact with: BRCA1, CHD4, HDAC2, MSH2, P53 RAD17, and RHEB. GRCh38: ... Gatei M, Zhou BB, Hobson K, Scott S, Young D, Khanna KK (May 2001). "Ataxia telangiectasia mutated (ATM) kinase and ATM and ... Serine/threonine-protein kinase ATR also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein ... Chen J (Sep 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following ...
Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune ... About Ataxia-Telangiectasia (Ataxia-Telangiectasia Childrens Project) * Ataxia - telangiectasia (Medical Encyclopedia) Also in ... Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) * National Institute of Neurological Disorders ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems ...
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. Review. Citation on PubMed or Free article on PubMed Central ...
A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and ...
Ocular manifestations of ataxia-telangiectasia.. Farr AK1, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX. ... To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems. ...
... cutaneous telangiectasia and cancer syndrome, familial); FRP1 (FRAP-related protein-1); MEC1 (mitosis entry checkpoint 1); ... Ataxia Telangiectasia Mutate Replication Stress Origin Firing Stall Replication Fork Heat Repeat These keywords were added by ... Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on ... Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase 1 DNA damage response axis in colon cancers. Genes ...
Definition of ataxia telangiectasia syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ...
Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty ... Children with A-T may begin staggering and appear unsteady (called ataxia) shortly after learning to walk. Most ... What is Ataxia-Telangiectasia?. Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic ... The gene associated with A-T is ATM, meaning ataxia telangiectasia mutated. Mutations (changes) in the ATM gene cause A-T. ...
Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Ari Elson, Yaoqi Wang, Cathie J. Daugherty, Cynthia C. ... Pleiotropic defects in ataxia-telangiectasia protein-deficient mice Message Subject (Your Name) has sent you a message from ...
... is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and ... in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re... ... encoded search term (Ataxia-Telangiectasia in Ophthalmology) and Ataxia-Telangiectasia in Ophthalmology What to Read Next on ... Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent ...
There are many forms of ataxia. Some ataxias are hereditary, some have other causes and sometimes ataxia can be a symptom of ... for treatment of ataxia telangiectasia and other inherited forms of ataxia are underway. For additional information, physicians ... Ataxia telangiectasia usually begins during infancy (between one and three years of age) and often affects more than one child ... Ataxia telangiectasia is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received ...
Ataxia telangiectasia (AT) is a rare human autosomal recessive disorder with pleiotropic phenotypes, including neuronal ... Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. ...
The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely ... Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and ... We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both ...
It is a multisystem disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, ... The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ... The genetic defect in ataxia-telangiectasia Annu Rev Immunol. 1997;15:177-202. doi: 10.1146/annurev.immunol.15.1.177. ... The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ...
AT stands for Ataxia-Telangiectasia. AT is defined as Ataxia-Telangiectasia very frequently. ... DIAGNOSIS Ataxia-telangiectasia DISCUSSION Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is a hereditary ... Eighth International Workshop on Ataxia-Telangiectasia (ATW8).. Ataxia telangiectasia and secondary diseases/Ataksi ... Comparison of ataxia-telangiectasia mutated protein expression in .... These conditions include molluscum, ataxia- ...
Make research projects and school reports about Ataxia-telangiectasia easy with credible articles from our FREE, online ... and pictures about Ataxia-telangiectasia at Encyclopedia.com. ... Ataxia-telangiectasia. Definition. Ataxia-telangiectasia (A-T) ... Ataxia-Telangiectasia. Definition. Ataxia-telangiectasia (A-T), also called Louis-Bar syndrome, is a rare, genetic neurological ... progressive ataxia and telangiectasia. However, this may be difficult as ataxia symptoms do appear prior to telangiectasia ...
Mutations at the ataxia-telangiectasia locus cause a distinctive autosomal recessive syndrome in homozygotes and predispose ... Carriers of mutations at the ataxia-telangiectasia locus, who make up 1.4% to 2% of the general population, have a higher ... 405 grandparents of patients with ataxia-telangiectasia.. MEASUREMENTS: Ages at death and risk for death (from all causes, ... Compared with noncarriers, carriers of a mutated ataxia-telangiectasia allele had a significantly increased risk for death at ...
... is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and ... in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re... ... Ataxia-telangiectasia is inherited as autosomal recessive. Ataxia-telangiectasia is caused by mutations in the ATM (ataxia ... encoded search term (Ataxia-Telangiectasia%20in%20Ophthalmology) and Ataxia-Telangiectasia in Ophthalmology What to Read Next ...
A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The ... Boder E (1985) Ataxia telangiectasia: an overview. In: Gatti RA, Swift M (eds) Ataxia telangiectasia. (Kroc foundation series, ... Swift M (1985) Genetics and epidemiology of ataxia telangiectasia.In: Gatti RA, Swift M (eds) Ataxia telangiectasia. (Kroc ... Taylor AMR (1982) Cytogenetics of ataxia telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. Wiley, ...
Ataxia telangiectasia is a rare childhood disease that affects the nervous system and other body systems. ... What is ataxia telangiectasia?. Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and ...
... This article is missing citations or needs footnotes.Using inline citations helps guard against copyright ... Huntingtons disease - Spinocerebellar ataxia (Friedreichs ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia). ... "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome[1] or Louis-Bar syndrome) is a primary immunodeficiency disorder that ...
People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew-shaped blood ... vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin; immunodeficiency involving both humoral (B ... Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. ... Diagnosis of Ataxia-Telangiectasia. The diagnosis of A-T is usually based on common clinical features (ataxia, telangiectasia, ...
Ataxia. Cerebellar Ataxia. Telangiectasis. Ataxia Telangiectasia. Dyskinesias. Neurologic Manifestations. Nervous System ... Baclofen Treatment of Ataxia Telangiectasia. The safety and scientific validity of this study is the responsibility of the ... Genetics Home Reference related topics: VLDLR-associated cerebellar hypoplasia Ataxia-telangiectasia Autosomal recessive ... ways to measure the problems of ataxia and abnormal eye movement for future studies of medication in ataxia telangiectasia. ...
... in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia. ... Tags: Ataxia, Ataxia-Telangiectasia, Cancer, Cell, Cell Cycle, DNA, DNA Damage, Gene, Genetic, Genetics, Genomic, ... in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia.. Ataxia ... New insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia. *Download PDF Copy ...
Discover smart, unique perspectives on Ataxia Telangiectasia and the topics that matter most to you like care coordination, ... Read stories about Ataxia Telangiectasia on Medium. ...
ataxia-telangiectasia;. ATM,. A-T-mutated;. PI 3-kinase,. phosphatidylinositol 3-kinase;. HO,. heme oxygenase. ... Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Carrolee Barlow, Phyllis A. Dennery, ... Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of ... Ataxia-telangiectasia (A-T) is an inherited disease causing progressive neurological dysfunction, especially in the cerebellum ...
This project is intended to produce a porcine model of ataxia-telangiectasia that will provide academic and industry ... DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that ... ataxia-telangiectasia. This project is relevant to the NIHs mission because it will provide a resource to stimulate discovery ... It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. In ...
See a picture of and learn about ataxia telangiectasia, a type of skin condition, in the eMedicineHealth Image Collection ... Picture of Ataxia Telangiectasia. Ataxia telangiectasia is a genetic condition that manifests in early childhood. It causes ... The photo depicts ocular telangiectasia, which is a reddening of the whites of the eyes caused by dilated blood vessels. Breaks ... cerebral ataxia (problems with balance and coordination), immune system abnormalities, and a predisposition to cancer. ...
It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia ... Anatomical context of Ataxia Telangiectasia. *ATM, the gene that is mutated in ataxia-telangiectasia, is associated with ... Chemical compound and disease context of Ataxia Telangiectasia. *Relationship of the ataxia-telangiectasia protein ATM to ... Biological context of Ataxia Telangiectasia. *ATM deficiency causes the genetic disorder ataxia-telangiectasia (A-T), ...
  • Mutations in the ATM gene cause ataxia-telangiectasia. (medlineplus.gov)
  • The gene associated with A-T is ATM , meaning ataxia telangiectasia mutated. (cancer.net)
  • We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein. (pnas.org)
  • Retrospective studies have shown that persons heterozygous for the ataxia-telangiectasia gene, who make up about 1% of the general population, also have an excess risk of cancer, particularly breast cancer in women. (medscape.com)
  • In addition, individuals with one ataxia telangiectasia gene (carriers) also appear to have an elevated risk for cancer. (rarediseases.org)
  • The ataxia-telangiectasia mutated (ATM) gene encodes a nuclear 370-kd phosphoprotein known to be associated with chromosomal regions containing doublestrand breaks. (acronymfinder.com)
  • To examine mortality rates among persons carrying a mutated ataxia-telangiectasia gene. (nih.gov)
  • Gatti RA, Berkel I, Boder E, et al (1988) Localisation of an ataxia telangiectasia gene to chromosome 11q22-23. (springer.com)
  • The responsible gene in AT, ataxia-telangiectasia mutated (ATM), was discovered in 1995 by Savitsky et al. (bionity.com)
  • A-T is caused by recessive mutations in the ataxia telangiectasia mutated (ATM) gene. (news-medical.net)
  • All known cases are caused by mutations in the ATM (for ataxia-telangiectasia-mutated) gene ( 2 ), which encodes a protein similar to the phosphatidylinositol 3-kinase (PI 3-kinase) family of kinases ( 2 ). (pnas.org)
  • Mutations in the ATM (Ataxia-Telangiectasia Mutated) gene are responsible for causing AT. (cags.org.ae)
  • Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are well-known single-gene disorders, which have similar cellular phenotypes, including chromosome instability, radioresistant DNA synthesis, and hypersensitivity to radiation. (springer.com)
  • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. (springer.com)
  • A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 1q22-23. (springer.com)
  • A single ataxia telangiectasia gene with a product similar to PI-3 kinase. (springer.com)
  • Cancer rates were significantly higher in the group of blood relatives than in their spouses, specifically in the subgroup of 294 blood relatives who were known to be heterozygous for the ataxia-telangiectasia gene. (uni-bonn.de)
  • The ataxia-telangiectasia gene predisposes heterozygotes to cancer, particularly breast cancer in women. (uni-bonn.de)
  • Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. (ajnr.org)
  • Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. (ajnr.org)
  • Germline mutations in the ATM gene cause the autosomal recessive neurological disease ataxia telangiectasia (A-T). The prevalence of A-T is ~1/40,000 - 1/100,000 affected individuals, with a carrier frequency of ~1/100. (cityofhope.org)
  • Diagnosis of ataxia-telangiectasia is confirmed by identifying mutations on both alleles of the gene for ATM protein. (merckmanuals.com)
  • The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. (stlukes-stl.com)
  • Purpose: Studies of the association between ataxia telangiectasia-mutated (ATM) gene polymorphisms and acute radiation injuries are often small in sample size, and the results are inconsistent. (osti.gov)
  • Hypomorphic mutations of the MRE11 gene are the hallmark of the radiosensitive ataxia-telangiectasia-like disorder (ATLD). (sigmaaldrich.com)
  • A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. (sciencemag.org)
  • A-T is caused by inactivating mutations in the ataxia telangiectasiamutated (ATM) gene, a serine-threonine protein kinase involved in DNA damage response and excitatory neurotransmission. (springermedizin.de)
  • A-T, alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. (itbusinessnet.com)
  • In order to identify the human chromosome which carries a mutated gene in cells from a patient with the hereditary disorder ataxia telangiectasia belonging to complementation group D (AT-D), we performed chromosome transfer experiments via microcell fusion. (nii.ac.jp)
  • A-T is caused by defects in Ataxia-Telagiectasia Mutated (Atm) gene. (unina.it)
  • The relationships between profiles of global gene expression and DNA damage checkpoint functions were studied in cells from patients with ataxia telangiectasia (AT). (aacrjournals.org)
  • Inactivating mutations in the ataxia telangiectasia-mutated ( ATM ) gene lead to radiation hypersensitivity, defects in DNA damage checkpoint functions, and chromosomal instability ( 1 - 3 ). (aacrjournals.org)
  • More than 400 mutations in this large gene (62 exons spanning ∼150 kb) have been documented in ataxia telangiectasia (AT) patients, of which ∼70% are truncating mutations and 30% are missense mutations ( 5 - 8 ). (aacrjournals.org)
  • Ataxia telangiectasia is a recessive genetic condition, which means that in order for a child to have the disease, he or she will need to have two copies of the affected gene -- one from each parent. (emedtv.com)
  • People who have one normal copy and one altered copy of the ATM gene are carriers of ataxia telangiectasia. (emedtv.com)
  • The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. (cancer.gov)
  • ATR (ataxia telangiectasia and Rad3 related) is a protein-coding gene. (cancer.gov)
  • The gene responsible for ataxia telangiectasia, ATM, has been identified and ATM mutations have been found in all four complementation groups, suggesting a single AT gene (68). (alpfmedical.info)
  • Role of the ataxia-telangiectasia gene (ATM) in breast cancer. (freethesaurus.com)
  • Ataxia-telangiectasia-like disorder (ATLD) is caused by mutations in the MRE11/ MRE11A gene, which is involved in homologous recombination, telomere length maintenance, cell cycle checkpoint control and DNA double-strand break repair (Taylor et al. (preventiongenetics.com)
  • Defect in the DNA break repair gene AT M (Ataxia Telangiectasia Mutant). (blogspot.com)
  • Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. (meta.org)
  • Unlike cystic fibrosis , where there are a number of mutations in the gene that causes the disease, in Ataxia telangiectasia, only one mutation common to most affected individuals and carriers has been found in the North African Jewish population: C103T. (geneticsofpregnancy.com)
  • Tyr2969Ter) in the ataxia telangiectasia mutated ATM gene were detected using Whole-Exome Sequencing (WES) in the probands. (eurekaselect.com)
  • A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. (uniprot.org)
  • Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia (see image below), and a predisposition to malignancy. (medscape.com)
  • Ataxia-telangiectasia should be considered among the immunodeficiency diseases, cancer-prone genetic disorders, chromosomal instability syndromes, disorders with abnormal radiosensitivity, syndromes with possible DNA-repair/processing defects, and (as is now evident) the progeroid syndromes. (medscape.com)
  • The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humoral immunodeficiency), resulting in increased susceptibility to upper and lower respiratory infections (sinopulmonary infections). (rarediseases.org)
  • It is a multisystem disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency, with defects in both cellular and humoral immunity. (nih.gov)
  • Ataxia-telangiectasia (AT) ( Boder-Sedgwick syndrome [1] or Louis-Bar syndrome ) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). (bionity.com)
  • Ataxia telangiectasia (A-T) is a rare, genetic immunodeficiency disease that affects multiple organ systems and is characterized by neurodegeneration and cancer predisposition. (news-medical.net)
  • Ataxia-telangiectasia (AT) is a rare progressive neurodegenerative autosomal recessive disorder characterized by cerebellar ataxia, neuromotor dysfunction, oculocutaneous telangiectasia and immunodeficiency. (clinicaltrials.gov)
  • This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. (nih.gov)
  • Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. (nih.gov)
  • Diagnosis of the disease is made from a constellation of characteristic features, including cerebellar ataxia, oculomotor abnormalities, ocular and cutaneous telangiectasias, and immunoglobulin A, immunoglobulin E, or immunoglobulin G 2 immunodeficiency, with susceptibility to sinonasal and pulmonary infections and lymphoreticular malignancies (5-8) . (ajnr.org)
  • Ataxia Telangiectasia (AT) is a rare and progressive genetic disorder characterized by primary immunodeficiency and a resultant degradation of the nervous system. (cags.org.ae)
  • Immunodeficiency and infections in ataxia-telangiectasia. (ajnr.org)
  • Ataxia-telangiectasia is an autosomal-recessive primary immunodeficiency disorder that involves combined humoral and cellular deficiencies . (merckmanuals.com)
  • Ataxia telangiectasia is a rare autosomal recessive disorder characterized by unsteady gait (ataxia), telangiectasia of eye and skin and a variable immunodeficiency disorder (both cellular and humoral) and a high incidence of malignancy. (pediatriconcall.com)
  • In contrast to AT, ATLD patients lack key clinical features, such as telangiectasia or immunodeficiency, and are therefore difficult to be diagnosed. (nii.ac.jp)
  • Autosomal recessive ataxia telangiectasia (A-T) is characterized by radiosensitivity, immunodeficiency, and cerebellar neurodegeneration. (springermedizin.de)
  • Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes. (unina.it)
  • Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. (ichgcp.net)
  • Ataxia telangiectasia (A-T) is a rare genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, and radiation sensitivity (Peterson et al. (elsevier.com)
  • 1 Patients with classic AT present with early-onset progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, late-onset peripheral neuropathy, and higher incidence of infections and tumors. (neurology.org)
  • Lederman, H.M. Immunodeficiency and infections in ataxia-telangiectasia. (eurekaselect.com)
  • Ataxia-telangiectasia (AT) is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. (medscape.com)
  • Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. (rarediseases.org)
  • Ataxia-telangiectasia (A-T) is a rare, genetic neurological disorder that progressively affects various systems in the body. (encyclopedia.com)
  • Huang PC, Sheridan RB (1981) Genetic and biochemical studies with ataxia telangiectasia. (springer.com)
  • Jaspers NGJ, Bootsma D (1982) Genetic heterogeneity in ataxia telangiectasia studied by cell fusion. (springer.com)
  • Ataxia telangiectasia is a genetic condition that manifests in early childhood. (emedicinehealth.com)
  • Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by gait disorders, neuromotor dysfunction, eye abnormalities and immune deficiency. (clinicaltrials.gov)
  • Ataxia Telangiectasia is a genetic problem and if an individual has a child with Ataxia Telangiectasia, there is 25% chance of recurrence in the next child. (pediatriconcall.com)
  • Ataxia telangiectasia is a genetic condition with no cure. (healthtap.com)
  • Ataxia telangiectasia is caused by a genetic mutation. (healthtap.com)
  • Is hemorrhagic telangiectasia (hht) a genetic disease? (healthtap.com)
  • Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks children, causing progressive loss of muscle control, immune system problems, and a high rate of cancer. (atcp.org)
  • Ataxia-telangiectasia (A-T), also called Louis-Bar syndrome, is a rare, genetic neurological disorder of childhood that progressively destroys part of the motor control area of the brain, leading to a lack of balance and coordination. (thefreedictionary.com)
  • The risk for more distant relatives depends on the degree of relationship between the relatives and the affected individuals, the ethnic groups of their partners, the presence of family members with Ataxia telangiectasia in the partners' families, consanguinity between the parents, if present, etc. and is established within genetic counseling . (geneticsofpregnancy.com)
  • Yurov YB, Vorsanova SG, Tagirova MK, lourov IY: Genetic paradoxes of neurodegeneration in ataxia telangiectasia (Louis-Bar syndrome). (biomedcentral.com)
  • Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. (wikipedia.org)
  • The following symptoms or problems are either common or important features of A-T: Ataxia (difficulty with control of movement) that is apparent early but worsens in school to pre-teen years Oculomotor apraxia (difficulty with coordination of head and eye movement when shifting gaze from one place to the next) Involuntary movements Telangiectasia (dilated blood vessels) over the white (sclera) of the eyes, making them appear bloodshot. (wikipedia.org)
  • Prominent blood vessels (telangiectasia) over the white (sclera) of the eyes usually occur by the age of 5-8 years, but sometimes appear later or not at all. (wikipedia.org)
  • Red marks called telangiectasias are caused by dilated capillaries, meaning tiny blood vessels, and may appear on the skin and eyes as people get older. (cancer.net)
  • The telangiectasias (visible dilated blood vessels) usually begin in the eyes (the eyes look "bloodshot") between three and six years of age, although they can occur earlier. (rarediseases.org)
  • Dilated and corkscrew-shaped blood vessels (telangiectasias) cause the whites of the eyes to look bloodshot or as if there is pink eye (conjunctivitis) or an allergy. (primaryimmune.org)
  • The photo depicts ocular telangiectasia, which is a reddening of the whites of the eyes caused by dilated blood vessels. (emedicinehealth.com)
  • Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. (mountsinai.org)
  • The most obvious features of A-T are the loss of balance and coordination (ataxia), and the appearance of clusters of blood vessels on the whites of the eye (telangiectasia) that make them appear bloodshot. (atcp.org)
  • This is a recessive inherited disorder with many manifestations, most starting in early childhood including ataxic (drunken like) walking, peculiar eye tracking motions which inhibit learning, telangiectasia which are dilated blood vessels especially prominent on the eyes but also in sun exposed areas, and many other problems. (healthtap.com)
  • Ataxia is usually noted early in life, and a key feature is the presence of dilated blood vessels visible in the sclerae of the eyes and on the cheeks and ears. (oup.com)
  • Ataxia telangiectasia is a neurodegenerative, rare, inherited disease which causes severe disability because of poor coordination and telangiectasia to small dilated blood vessels, both symptoms of the disease. (healthician.org)
  • The A-T Children's Project (Ataxia Telangiectasia Children's Project) (ATCP) is a national, non-profit organization that was established in 1993. (rarediseases.org)
  • Salt Lake City - Recursion Pharmaceuticals, an emerging biotech company today announced receipt of a research award from the A-T Children's Project, which seeks to support research for the disease ataxia-telangiectasia. (atcp.org)
  • Chris Gibson, Ph.D., CEO of Recursion Pharmaceuticals remarked: "We are grateful to the A-T Children's Project for this award which will enable us to rapidly deploy our innovative drug discovery technology towards Ataxia-telangiectasia. (atcp.org)
  • About A-T Children's Project - The A-T Children's Project is a nonprofit organization that raises funds to support and coordinate first-rate biomedical research projects, scientific conferences and a clinical center aimed at finding life-improving therapies and a cure for ataxia-telangiectasia. (atcp.org)
  • We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). (bmj.com)
  • What is the treatment of Ataxia Telangiectasia? (pediatriconcall.com)
  • OXFORD, UK / ACCESSWIRE / March 13, 2019 / IntraBio Inc., a late-stage biopharmaceutical company, today announced that the US Food and Drug Administration (FDA) has approved its Investigational New Drug (IND) Application for Clinical Trial IB1001-203 with its lead compound (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). (itbusinessnet.com)
  • Ataxia-telangiectasia combines central nervous system disease with an oculocutaneous anomaly, fulfilling the criteria for classification within the phacomatoses group of diseases. (medscape.com)
  • Telangiectasia can be a symptom of scleroderma or other systemic diseases. (mountsinai.org)
  • Diseases associated with ATR include cutaneous telangiectasia and cancer syndrome, familial, and chronic active epstein-barr virus infection. (cancer.gov)
  • Xiao, W. Molecular basis of ataxia telangiectasia and related diseases. (eurekaselect.com)
  • Hecht F, McKaw K (1982) Ataxia telangiectasia - genetics and heterogeneity. (springer.com)
  • Ataxia-telangiectasia (AT) is a human autosomal recessive disorder characterized by a wide variety of progressive clinical symptoms (for review, see ref. 1 ). (pnas.org)
  • Ataxia-telangiectasia (A-T) [1] is a progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including cerebellar ataxia, conjunctival telangiectases, recurrent sinopulmonary infections, radiosensitivity, and increased cancer susceptibility (1). (acronymfinder.com)
  • Ataxia Telangiectasia [ATM]: Autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. (jewishgeneticdiseases.org)
  • Ataxia telangiectasia (AT) is a rare human autosomal recessive disorder with pleiotropic phenotypes, including neuronal degeneration, immune dysfunction, premature ageing and increased cancer risk. (uptodate.com)
  • Mutation of ATM occurs in the human autosomal recessive disorder ataxia-telangiectasia, which is characterized by hypersensitivity to ionizing radiation and a failure of cells to arrest the cell cycle after the induction of DNA double-strand breaks. (aacrjournals.org)
  • The diagnosis of A-T may not be made until the preschool years when the neurologic symptoms of impaired gait, hand coordination, speech and eye movement appear or worsen, and the telangiectasia first appear. (wikipedia.org)
  • Therefore, ataxia-telangiectasia symptoms include all the possible consequences of the perturbations in DNA damage response (DDR). (medscape.com)
  • Atm-deficient mice then exhibit many of the same symptoms found in ataxia-telangiectasia patients and in cells derived from them. (pnas.org)
  • The main symptoms of AT include cerebellar ataxia, oculocutaneous telangiectasias, acute sensitivity to ionizing radiation, thymic degeneration, immunodeficiencies and subsequent recurrent sinopulmonary infections, high incidences of lymphoma and leukemia, growth retardation, incomplete sexual maturation, and progeric changes to hair and skin. (pnas.org)
  • Although there is much variability in A-T symptoms among patients, the signs of A-T almost always include the appearance of ataxia between the ages of two and five. (encyclopedia.com)
  • What are the symptoms of Ataxia Telangiectasia? (pediatriconcall.com)
  • Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). (nii.ac.jp)
  • Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. (oup.com)
  • The DelveInsight Ataxia Telangiectasia (AT) market report gives a thorough understanding of the Ataxia Telangiectasia (AT) by including details such as disease definition, symptoms, causes, pathophysiology, diagnosis and treatment. (delveinsight.com)
  • Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. (cancer.net)
  • DIAGNOSIS Ataxia-telangiectasia DISCUSSION Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is a hereditary autosomal recessive progressive multisystem disease. (acronymfinder.com)
  • Living with hht (hereditary hemorrhagic telangiectasia), how to make things better? (healthtap.com)
  • There is no cure for hht hereditary hemorrhagic telangiectasia . (healthtap.com)
  • How do people treat hereditary hemorrhagic telangiectasia? (healthtap.com)
  • Hereditary hemorrhagic telangiectasia (hht). (healthtap.com)
  • Ataxia-telangiectasia (AT) is a hereditary disease that mainly affects the system that corrects spontaneously occurring chromosomal breakage, and as a result DNA damage, in the cells of the body. (geneticsofpregnancy.com)
  • Background: Ataxia telangiectasia (AT) is one of the most common autosomal recessive hereditary ataxia presenting in childhood. (eurekaselect.com)
  • They presented with late onset cerebellar degeneration slowly progressing until puberty and absence of telangiectasias, and were cancer-free. (sigmaaldrich.com)
  • lourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB: Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. (biomedcentral.com)
  • This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. (medlineplus.gov)
  • Ataxia refers to uncoordinated movements, such as walking. (mountsinai.org)
  • Ataxia means movements without coordination. (healthtap.com)
  • Progressive ataxia is generally the first symptom, followed by choreiform movements (in approx 90% of patients) and conjunctival telangiectasias, which usually appear between 3 and 5 yr of age. (alpfmedical.info)
  • It is a progressive difficulty with movements coordination (ataxia) beginning in early childhood, generally before age 5. (healthician.org)
  • Alpha fetoprotein is increasing with age in Ataxia-Telangiectasia Eur J Paediatr Neurol. (uio.no)
  • Ataxia telangiectasia is a multisystem disease characterized by cerebellar ataxia, oculomucocutaneous telangiectasias, and susceptibility to certain infections and neoplastic processes. (ajnr.org)
  • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. (freethesaurus.com)
  • Syllaba and Henner first published descriptions of patients with ataxia-telangiectasia in 1926. (medscape.com)
  • [ 11 ] The authors analyzed the production of antibodies to polysaccharide antigens in patients with ataxia-telangiectasia and found that the levels of immunoglobulin G (IgG) antibodies to serotypes 1, 3, 5, 6B, 9V, and 14 of Streptococcus pneumoniae before and after immunization with 23-valent polysaccharide vaccine were significantly lower than in a healthy population. (medscape.com)
  • The cause of death in more than 50% of patients with ataxia-telangiectasia is recurrent respiratory infections. (medscape.com)
  • Patients with ataxia-telangiectasia and cells derived from homozygotes and heterozygotes are unusually sensitive to ionizing radiation. (medscape.com)
  • The mean age of patients with ataxia-telangiectasia at the time of presentation is 2.5-7 years. (medscape.com)
  • More than 50% of patients with ataxia-telangiectasia die of recurrent respiratory infections, and many of the remainder develop malignancies, such as leukemia or lymphomas. (medscape.com)
  • 405 grandparents of patients with ataxia-telangiectasia. (nih.gov)
  • immunogenicity in patients with ataxia-telangiectasia. (uio.no)
  • Cancer incidence and mortality, mortality from ischemic heart disease, and mortality from all causes were compared prospectively for a mean of 6.4 years in 1599 adult blood relatives of patients with ataxia-telangiectasia and 821 of their spouses, who served as controls, in 161 families affected by ataxia-telangiectasia. (uni-bonn.de)
  • Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries. (ajnr.org)
  • Treatment with prophylactic antibiotics or immune globulin may help patients with ataxia-telangiectasia. (merckmanuals.com)
  • To test whether transrearrangements result from chromosomal rearrangements with breakpoints at the sites of Ag receptor genes, PCR was performed on the DNA of PBL from patients with ataxia telangiectasia, a disorder in which circulating lymphocytes often have numerous karyotypic abnormalities with breakpoints at the cytogenetic positions of these genes. (jimmunol.org)
  • In conclusion, when assessing patients with ataxia of unknown cause, ATLD should be considered, and the gonadal state and peripheral blood smear samples evaluated. (nii.ac.jp)
  • The effects of weekly doses of transfer factor in four patients with ataxia--telangiectasia were investigated following a total course of 2 months therapy. (curehunter.com)
  • It is important that relatives of patients with Ataxia telangiectasia clarify which mutations are present in the patient or parents in their family in order to ascertain that they are included in the battery of mutations routinely tested for - otherwise it will be necessary to expand the list of mutations tested for and/or examine the partner. (geneticsofpregnancy.com)
  • Mutations at the ataxia-telangiectasia locus cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer and ischemic heart disease. (nih.gov)
  • Arlett CF, Priestley A (1985) An assessment of the radiosensitivity of ataxia telangiectasia heterozygotes. (springer.com)
  • Cellular sensitivity of human skin fibroblast strains from three healthy donors, eight ataxia-telangiectasia (A-T) patients belonging to six sibships, and two A-T heterozygotes to the lethal action of the antitumor antibiotic neocarzinostatin was tested, using colony-forming ability as the criterion for survival. (aacrjournals.org)
  • Identification of ataxia telangiectasia heterozygotes by flow cytometric analysis of X-ray damage. (semanticscholar.org)
  • Flow cytometry was used to identify heterozygotes for the autosomal recessive DNA-repair deficiency disease ataxia telangiectasia (AT). (semanticscholar.org)
  • Andrieu, N. Cancer risk in heterozygotes for ataxia-telangiectasia. (eurekaselect.com)
  • Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. (uptodate.com)
  • Ataxia-telangiectasia (A-T) is characterized by a markedly increased sensitivity to ionizing radiation, increased incidence of cancer, and neurodegeneration, especially of the cerebellar Purkinje cells. (pnas.org)
  • Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. (springer.com)
  • Diagnostic or occupational exposure to ionizing radiation probably increases the risk of breast cancer in women heterozygous for ataxia-telangiectasia. (uni-bonn.de)
  • By contrast, KU-55933 did not potentiate the cytotoxic effects of ionizing radiation on ataxia-telangiectasia cells, nor did it affect their cell cycle profile after DNA damage. (aacrjournals.org)
  • The ionizing radiation-induced replication protein A phosphorylation response differs between ataxia telangiectasia and normal human cells. (asm.org)
  • Ocular manifestations of ataxia-telangiectasia. (nih.gov)
  • To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems. (nih.gov)
  • The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. (uptodate.com)
  • Static ataxia (disruption of balance when the person is standing) and locomotor ataxia (actual disruption of the coordination of movement) are distinguished according to clinical manifestations. (thefreedictionary.com)
  • Frontal ataxia, which occurs with the disruption of frontal-cerebellar pathways, is similar to cerebellar ataxia in its manifestations. (thefreedictionary.com)
  • Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on chromosome 3q23 (Cimprich et al. (springer.com)
  • The primary transducer of the cellular response to the double-strand break, a highly cytotoxic DNA lesion, is the nuclear protein kinase ataxia telangiectasia (A-T) mutated (ATM), which phosphorylates numerous effectors that play key roles in the damage response pathways. (jneurosci.org)
  • Among the members of this family are ataxia-telangiectasia (A-T) mutated (ATM) and the DNA-dependent protein kinase (DNA-PK), which respond primarily to DSBs that are involved in the nonhomologous end-joining pathway of DSB repair, and ataxia telangiectasia Rad 3-related (ATR), which responds primarily to UV damage and stalled replication forks but also shares with ATM substrates in the DSB response pathway. (jneurosci.org)
  • The pathway is negatively controlled by the protein degradation system that includes the Mdm2 E3 ligase and is positively activated by the ataxia-telangiectasia mutated (ATM) protein kinase. (royalsocietypublishing.org)
  • Clonogenic assays demonstrated a significant sensitization in NK314-treated cells deficient in DNA-dependent protein kinase (DNA-PK) catalytic subunit, Ku80, ataxia telangiectasia mutated (ATM), BRCA2, or XRCC3 compared with wild-type cells, indicating that both nonhomologous end-joining and homologous recombination DNA repair pathways contribute to cell survival. (aspetjournals.org)
  • A gap of some 15 years occurred before the next report in 1941 by Louis-Bar, who described progressive cerebellar ataxia and cutaneous telangiectasia in a Belgian child. (medscape.com)
  • Ataxia-telangiectasia can also be classified among the neurocutaneous syndromes, although not among the phakomatoses as originally proposed, because the vascular and cutaneous lesions of ataxia-telangiectasia are not congenital nevi but develop in the course of the disease as a progeric manifestation. (medscape.com)
  • Biton S, Barzilai A, Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. (medlineplus.gov)
  • Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. (uptodate.com)
  • The work provides new insights into mechanisms of how the body fixes environmentally induced DNA damage and into the deadly neurological disease ataxia-telangiectasia (A-T), said senior author Christopher Bakkenist, assistant professor of radiation oncology, pharmacology and chemical biology at UPCI and the School of Medicine. (acronymfinder.com)
  • AT is characterized by progressive cerebellar ataxia , oculocutaneous telangiectasia , progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction. (bionity.com)
  • Ataxia-telangiectasia (A-T) is an inherited disease causing progressive neurological dysfunction, especially in the cerebellum ( 1 ). (pnas.org)
  • Can my neurological disease of spinocelebar ataxia cause irritable bowel syndrome with. (healthtap.com)
  • The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia reported in 1941 by Madame Louis-Bar. (medscape.com)
  • a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. (medscape.com)
  • Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. (wikipedia.org)
  • Ataxia-telangiectasia (A-T) is a rare, inherited disease. (medlineplus.gov)
  • Ataxia-telangiectasia can best be classified, according to its major clinical and pathologic features, as a predominantly cerebellar form of spinocerebellar degeneration, which is transmitted as an autosomal recessive trait and evolves ultimately to include motor neuron disease, with spinal muscular atrophy and peripheral neuropathy. (medscape.com)
  • Initially known as the Louis-Bar syndrome, the term ataxia-telangiectasia was introduced in 1958 by Boder et al, who recorded the clinical features and recognized the familial incidence proposing an autosomal recessive mode of inheritance for the disease. (medscape.com)
  • The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ago. (nih.gov)
  • Carriers of mutations at the ataxia-telangiectasia locus, who make up 1.4% to 2% of the general population, have a higher mortality rate and an earlier age at death from cancer and ischemic heart disease than noncarriers. (nih.gov)
  • Levin S, Perlov S (1971) Ataxia telangiectasia in Israel, with observations on its relationship to malignant disease. (springer.com)
  • Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems. (hopkinsmedicine.org)
  • Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. (primaryimmune.org)
  • It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. (sbir.gov)
  • This project is intended to produce a porcine model of ataxia-telangiectasia that will provide academic and industry researchers with an opportunity to better understand theconsequences of ATM dysfunction, the pathogenesis of A-T disease, and provide an improved model in which to develop and test new therapeutic strategies. (sbir.gov)
  • PUBLIC HEALTH RELEVANCE: This proposal specifically outlines the development, initial characterization, and propagation of genetically engineered porcine model of the human disease, ataxia-telangiectasia. (sbir.gov)
  • Ataxia telangiectasia (ah-TAX-ee-uh tel-AN-jeck-TAY-zhuh) is a rare childhood disease that affects the nervous system and other body systems. (novanthealth.org)
  • Ataxia Telangiectasia is a progressive degenerative disease which affects various systems of the body. (pediatriconcall.com)
  • Like many genetically inherited ataxias, A-T is a disabling, progressive syndrome that severely impairs motor function and quality of life and becomes more disabling over the course of the disease. (itbusinessnet.com)
  • The Mechanism of Hyper-radiosensitivity Expressed in Ataxia telangiectasia Disease. (nii.ac.jp)
  • The disease epidemiology covered in the report provides historical as well as forecasted Ataxia Telangiectasia (AT) epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2017 to 2030. (delveinsight.com)
  • The second hallmark of the disease is the presence of oculocutaneous telangiectasias ( Figure 2 ), present in more than 90% of patients. (clinicalpainadvisor.com)
  • Ataxia Telangiectasia is a multisystemic disease with neurologic, immunologic and endocrine features. (clinicalpainadvisor.com)
  • Ataxia appears when there is a disease in one or more of the links in this system. (thefreedictionary.com)
  • Sensory ataxia is observed in disease of the peripheral nerves or of the posterior columns of the spinal cord. (thefreedictionary.com)
  • The treatment of ataxia consists of eliminating the fundamental disease with which it is associated, doing therapeutic exercise, and aiding in the restoration of proper coordination of movement. (thefreedictionary.com)
  • Ataxia-telangiectasia is a rare childhood disease that affects the brain and other parts of the body. (coordinatedhealth.com)
  • Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. (neurology.org)
  • Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? (biomedcentral.com)
  • Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. (biomedcentral.com)
  • Clinical and biochemical alterations, such as reduction of lean mass, premature aging, insulin resistance (IR), type 2 diabetes, and risk of developing cardiovascular (CV) disease [ 1 ] have been recently added to the classic phenotype of ataxia telangiectasia (A-T). (biomedcentral.com)
  • lourov IY, Vorsanova SG, Liehr T, Yurov YB: Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. (biomedcentral.com)
  • We describe two novel disease-causing mutations in two unrelated Iranian families with Ataxiatelangiectasia. (eurekaselect.com)
  • Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. (uptodate.com)
  • How is the diagnosis of Ataxia Telangiectasia made? (pediatriconcall.com)
  • The diagnosis of Ataxia Telangiectasia is usually based on characteristic clinical findings. (pediatriconcall.com)
  • We report the clinical, histopathologic, and molecular features of a 6-year-old child who presented with EBV-positive Hodgkin lymphoma (HL), which led to the diagnosis of ataxia telangiectasia. (elsevier.com)
  • Hummel, JM , Thorland, EC & Lim, MS 2010, ' Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia: Review of the literature ', Journal of Hematopathology , vol. 3, no. 2, pp. 69-76. (elsevier.com)
  • People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. (medlineplus.gov)
  • The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood. (medlineplus.gov)
  • In people with ataxia telangiectasia, the ATM protein is missing or defective. (emedtv.com)
  • Mortality rates among carriers of ataxia-telangiectasia mutant alleles. (nih.gov)
  • The protein ATM when mutated is responsible for Ataxia-telangiectasia, which acts upstream of the MRN complex and is responsible for MRN activation through phosphorylation. (preventiongenetics.com)
  • One basic defect associated with the malady is the abnormal sensitivity of ataxia-telangiectasia cells to x-rays and certain radiomimetic chemicals but not to ultraviolet irradiation, which leads to chromosome and chromatid breaks. (medscape.com)
  • Publications] kenshi komatsu: 'Restoration of radiation resistance in ataxia telangiectasia cells by the introduction of normal human chromosome 11' Mutation Research. (nii.ac.jp)
  • Publications] Seiji Kodama: 'Suppression of X-ray-induced chromosome aberrations in atataxia telangiectasia cells by introducting normal human chromosomell' Mutation Research. (nii.ac.jp)
  • Ataxia-telangiectasia is a syndrome of chromosome instability (CIN) featured by progressive neurodegeneration affecting the cerebellumin in contrast to other brain areas. (biomedcentral.com)
  • ATLD patients are very similar to AT patients in showing a progressive cerebellar ataxia, hypersensitivity to ionising radiation and genomic instability. (bionity.com)
  • AT M is inactivated in ataxia telangiectasia-->hypersensitivity to x-rays and predisposition to lymphomas. (blogspot.com)
  • Clinically it is characterized by cerebellar ataxia, telangiectasias, immune defects, and a predisposition to malignancy. (geneticsofpregnancy.com)
  • The ataxia is caused by abnormalities in the cerebellum, a part of the brain that controls balance and movement. (primaryimmune.org)
  • Cerebellar abnormalities on proton MR spectroscopy in gluten ataxia. (ajnr.org)
  • The name is a combination of two recognized abnormalities: ataxia (lack of muscle control) and telangiectasia (abnormal dilatation of capillary vessels that often result in tumors and red skin lesions ). (thefreedictionary.com)
  • At around age two, ataxia and nervous system abnormalities becomes apparent. (thefreedictionary.com)
  • Modan-Moses, D. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. (eurekaselect.com)
  • Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. (medlineplus.gov)
  • For these patients, the combination of a weakened immune system and progressive ataxia can ultimately lead to pneumonia as a cause of death. (encyclopedia.com)
  • Ataxia telangiectasia like disorder (ATLD) is an extremely rare condition which could be considered as a differential diagnosis to AT. (bionity.com)
  • Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (springer.com)
  • These findings further underscore the interconnection between ATM activity and MRN function, which rationalizes the clinical similarity between ataxia-telangiectasia (A-T) and ATLD. (sigmaaldrich.com)
  • Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. (healthtap.com)
  • We describe herewith 3 children with ataxia telangiectasia (AT) who presented to us with recurrent chest infections. (pediatriconcall.com)
  • The third patient was diagnosed at 1 year of age with ataxia and recurrent chest infections. (pediatriconcall.com)
  • Ataxia-Telangiectasia A-T is a neurodegenerative disorder of the cerebellum, manifesting with ataxia, as well as extrapyramidal features. (clinicaltrials.gov)
  • Ataxia-telangiectasia, a neurodegenerative disorder. (ajnr.org)
  • The onset of cerebellar ataxia (unsteadiness and lack of coordination) marks the beginning of progressive degeneration of the cerebellum , the part of the brain responsible for motor control (movement). (encyclopedia.com)
  • Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection, and malignancies. (jewishgeneticdiseases.org)
  • The patient had a history of gait ataxia since age 4 years and was diagnosed with ataxia telangiectasia at age 7 after developing ocular telangiectasias. (ajnr.org)
  • gait ataxia and lymphopenia, especially of CD4, and immunoglobulin deficiencies, mainly of IgA and/or IgG subclasses. (pediatriconcall.com)
  • Truncal ataxia (oscillations of the trunk) may be evident at the 5th-6th months of life, while gait ataxia appears when the affected child starts to walk, with frequent falls. (clinicalpainadvisor.com)
  • The true incidence of ataxia-telangiectasia is unknown. (medscape.com)
  • The incidence of ataxia telangiectasia in the 79 sibs of index cases was 1 in 7. (springer.com)
  • Ataxia telangiectasia is inherited as an autosomal recessive trait with an incidence of one in 20000 to 100000 births. (ajnr.org)
  • The incidence of ataxia-telangiectasia is about 1 case in 100,000 births. (freethesaurus.com)
  • Ataxia-telangiectasia is an autosomal recessive syndrome in which cancers develop in affected homozygotes at a rate approximately 100 times higher than in unaffected age-matched subjects. (medscape.com)
  • These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition. (springer.com)
  • Ataxia telangiectasia (AT) is an autosomal recessive disorder that affects 1/40,000 to 1/100,000 individuals. (alpfmedical.info)
  • Ataxia Telangiectasia is inherited in autosomal recessive manner, which means that two healthy parents, both carriers of one ATM mutation, have at each pregnancy a 25% risk of giving birth to an affected child. (clinicalpainadvisor.com)
  • Clusters of blood vessel (telangiectasia) usually appear on the whites of the eyes by the time the child is five to eight years old. (atcp.org)
  • 2017. https://www.tabers.com/tabersonline/view/Tabers-Dictionary/740738/all/ataxia_telangiectasia. (tabers.com)
  • The Ataxia Telangiectasia (AT) market report provides current treatment practices, emerging drugs, Ataxia Telangiectasia (AT) market share of the individual therapies, current and forecasted Ataxia Telangiectasia (AT) market Size from 2017 to 2030 segmented by seven major markets. (delveinsight.com)
  • The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils. (nii.ac.jp)
  • differential diagnosis compared with AT-LD (ataxia Telangiectasia-like disorder), AOA1 and AOA2 (ataxias with oculomotor apraxia type 1 and 2 (AOA1, AOA2) is primarily done in the laboratory on the basis of a multiple Western blots done with the specific antibodies. (clinicalpainadvisor.com)
  • The absence of telangiectasia does not exclude the diagnosis of A-T. Potentially a cosmetic problem, the ocular telangiectasia do not bleed or itch, though they are sometimes misdiagnosed as chronic conjunctivitis. (wikipedia.org)
  • Apparent ocular telangiectasia. (medscape.com)
  • [ 3 ] They observed progressive choreoathetosis and ocular telangiectasia in 3 members of a single family. (medscape.com)
  • Progressive cerebellar ataxia usually becomes clinically apparent when the child begins to walk. (medscape.com)
  • In those with AT, progressive ataxia typically develops during infancy and may initially be characterized by abnormal swaying of the head and trunk. (rarediseases.org)
  • We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. (uptodate.com)
  • The ataxia is progressive and often begins as truncal unsteadiness with limbs involved later. (arizona.edu)
  • An upcoming paper from Dr. David Wassarman (University of Wisconsin School of Medicine and Public Health) in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia . (news-medical.net)
  • Could I be suffering from either early onset Parkinson's or ataxia telangiectasia? (healthtap.com)
  • The latter is suggested by an earlier onset of signs, the lack of cerebellar atrophy, and the absence of ataxia and ocular telangiectases on initial presentation. (arizona.edu)
  • Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase 1 DNA damage response axis in colon cancers. (springer.com)
  • Nam EA, Zhao R, Glick GG, Bansbach CE, Friedman DB, Cortez D. Thr-1989 phosphorylation is a marker of active ataxia telangiectasia-mutated and Rad3-related (ATR) kinase. (springer.com)
  • The aim of the study reported here was to further investigate the potential effect of ataxia-telangiectasia mutated (ATM) kinase-dependent hyperphosphorylation of checkpoint kinase-2 (Chk2) on radiosensitivity enhanced by oligodeoxynucleotide 7909 containing CpG motifs (CpG ODN7909) in human lung adenocarcinoma A549 cells. (dovepress.com)
  • However, following ATM kinase inhibition using a specific ATM inhibitor, we observed a significant increase in ATM and ataxia-telangiectasia and Rad3 related transcription. (royalsocietypublishing.org)
  • DDR pathways are initiated by phosphoinositide 3-kinase-like kinase family (PIKK) members, including ATM and ataxia-telangiectasia and Rad3 related (ATR), which recognize distinct types of DNA damage. (royalsocietypublishing.org)
  • Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. (medlineplus.gov)
  • DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that affects between 1 in 40,000 to 1 in 100,000 individuals worldwide. (sbir.gov)
  • She had bilateral conjunctival telangiectasias, bilateral foot drop, and no deep tendon reflex at the ankles. (ajnr.org)