Ataxia telangiectasia. Medical search

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.

Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.

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)

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

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

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

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

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

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

"The Ataxia-Telangiectasia Society Annual Report and Accounts" (PDF). 2014. "Information for ICRR2015". Journal of Radiation ... In 2014, Jeggo was the chair of the Scientific Advisory Board for the Ataxia-Telangiectasia Society. Jeggo was an invited ... She found that a mutation in ataxia telangiectasia mutated kinase (ATM) causes damage to DNA and chromatin structure. Jeggo's ... In her most recent publication, Jeggo worked with other researchers on the Ataxia telangiectasia and Rad3 related protein (ATR ...

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

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

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

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

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

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

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

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

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

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 ...

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

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

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

... increased phosphorylation of ataxia telangiectasia mutated (ATM), checkpoint kinase 1 (Chk 1), Chk 2; and reduced cell division ...

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

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

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

This includes ataxia-telangiectasia, Chédiak-Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco-Sjögren ...

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

Increased serum levels in adults are also seen in acute hepatitis, colitis and ataxia telangiectasia. Increased serum levels of ...

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

"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 ...

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

Ataxia telangiectasia mutated kinase (ATM kinase)[edit]. ATM kinase, a member of the PI3-like family of serine/threonine ...

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

Other areas of research include hereditary diffuse gastric cancer, small cell carcinoma of the ovary and Ataxia Telangiectasia ...

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

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 ...

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

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 ...

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

"Cell-surface expression of transrearranged Vgamma-cbeta T-cell receptor chains in healthy donors and in ataxia telangiectasia ...

https://en.wikipedia.org/wiki/CXorf40A

The human ATM gene is responsible for the human autosomal-recessive disorder ataxia-telangiectasia and is located on chromosome ...

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

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

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

ATR, which stands for Ataxia telangiectasia and Rad3 related, regulates how cells respond to stress and can help promote DNA ...

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

Ataxia Telangiectasia and other conditions.[citation needed] In addition to raising money for rehabilitative services for their ...

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

In the presence of ionizing radiation (IR), the Smc1 subunit of cohesin is phosphorylated by the ataxia telangiectasia mutated ...

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

... ataxia-telangiectasia, and viral meningoencephalitis. Measurement of T cell receptor excision circles during newborn screening ...

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

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 ...

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

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 ...

https://en.wikipedia.org/wiki/Fam158a

X-linked lymphoproliferative disease (XLP) Ataxia-telangiectasia Secondary immune deficiencies AIDS An allergy is an abnormal ...

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

... 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 ...

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

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

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

Ataxia telangiectasia mutated,[58]. *BARD1,[59]. *BRCA1,[59][60][61][62]. *BRCA2,[52][59][60][63][64][65][66][67][68][69][70][ ...

https://en.wikipedia.org/wiki/Rad51

Ataxia-telangiectasia). peripheral: Purine nucleoside phosphorylase deficiency *Hyper IgM syndrome (1). Severe combined. (B+T) ...

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

Ataxia telangiectasia. بیماری‌های نورون حرکتی. *نورون حرکتی فوقانی فقط: *Primary lateral sclerosis ...

https://fa.wikipedia.org/wiki/اختلالات_حرکتی

Nuclear protein Ataxia-Telangiectasia (NPAT), also known as nuclear protein coactivator of histone transcription, is a ...

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

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

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

Wiskott-Aldrich syndrome DNA repair defects not causing isolated SCID: ataxia-telangiectasia, ataxia-like syndrome, Nijmegen ...

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

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) ...

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

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

https://en.wikipedia.org/wiki/Lou_Gehrig's_disease

Ataxia telangiectasia mutated. *mTOR. *EIF-2 kinases *PKR. *HRI. *EIF2AK3. *EIF2AK4. *Wee1 *WEE1 ...

https://en.wikipedia.org/wiki/CDK4

ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D). *CD81 ...

https://tl.wikipedia.org/wiki/Kromosomang_11_

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

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

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 ...

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

Ataxia-telangiectasia). peripheral: Purine nucleoside phosphorylase deficiency *Hyper IgM syndrome (1). Severe combined. (B+T) ...

https://en.wikipedia.org/wiki/Antibody-dependent_cellular_cytotoxicity

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 ...

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

... 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 ...

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

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 ...

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

Ataxia telangiectasia. *Incontinentia pigmenti. *Peutz-Jeghers syndrome. *Encephalocraniocutaneous lipomatosis. *v. *t. *e ...

https://en.wikipedia.org/wiki/Lhermitte–Duclos_disease

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

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

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 ...

https://en.wikipedia.org/wiki/Stiff-person_syndrome

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

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

Gall gwrthimiwnedd nad yw'n fwriadol ddigwydd mewn, er enghraifft, ataxia-telangiectasia, sawl math o ganser, a heintiau cronig ...

https://cy.wikipedia.org/wiki/Gwrthimiwnedd

Friedreich's ataxia. *Ataxia-telangiectasia. MND. *UMN only: *Primary lateral sclerosis. *Pseudobulbar palsy ...

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

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 ...

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

Mental retardation arachnodactyly hypotonia telangiectasia. *Mental retardation athetosis microphthalmia. *Mental retardation ... Luteinizing hormone releasing hormone, deficiency of with ataxia. *Lutz Richner Landolt syndrome ...

https://en.wikipedia.org/wiki/Wikipedia:WikiProject_Missing_encyclopedic_articles/Missing_diseases/7

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 ...

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

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 ...

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

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 ...

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

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 ...

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

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 ...

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

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 ...

https://medlineplus.gov/ataxiatelangiectasia.html

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

https://medlineplus.gov/genetics/condition/ataxia-telangiectasia

A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and ...

https://www.uniprot.org/diseases/DI-00139

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. ...

https://www.ncbi.nlm.nih.gov/pubmed/12470759?dopt=Abstract

... 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 ...

https://link.springer.com/referenceworkentry/10.1007/978-1-4614-6438-9_101789-1

Definition of ataxia telangiectasia syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ...

https://www.drugs.com/dict/ataxia-telangiectasia-syndrome.html

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. ...

https://www.cancer.net/cancer-types/ataxia-telangiectasia

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 ...

https://www.pnas.org/content/93/23/13084?ijkey=409b0c31a970a875655102016eed1a2ae9f7ad82&keytype2=tf_ipsecsha

... 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 ...

https://emedicine.medscape.com/article/1219140-overview

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 ...

https://rarediseases.org/rare-diseases/ataxia-telangiectasia/

Ataxia telangiectasia (AT) is a rare human autosomal recessive disorder with pleiotropic phenotypes, including neuronal ... Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. ...

http://www.uptodate.com/contents/ataxia-telangiectasia/abstract/11

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 ...

http://www.uptodate.com/contents/ataxia-telangiectasia/abstract/90

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 ...

https://pubmed.ncbi.nlm.nih.gov/9143686/?dopt=Abstract

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- ...

https://www.acronymfinder.com/Ataxia_Telangiectasia-

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 ...

https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/ataxia-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 ...

https://www.ncbi.nlm.nih.gov/pubmed/11085839?dopt=Abstract

... 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 ...

https://emedicine.medscape.com/article/1219140-clinical

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, ...

https://link.springer.com/article/10.1007/BF00210809

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 ...

https://www.hopkinsmedicine.org/healthlibrary/conditions/adult/breast_health/ataxia_telangiectasia_a-t_85,P08142

... 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 ...

https://www.bionity.com/en/encyclopedia/Ataxia_telangiectasia.html

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, ...

https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/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. ...

https://clinicaltrials.gov/show/NCT00640003

... 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 ...

https://www.news-medical.net/news/2008/04/15/37377.aspx

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. ...

https://medium.com/tag/ataxia-telangiectasia

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 ...

https://www.pnas.org/content/96/17/9915?ijkey=385c4eb8699228ba2d4d52093bab85079ff4546a&keytype2=tf_ipsecsha

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 ...

https://www.sbir.gov/sbirsearch/detail/389429

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. ...

https://www.emedicinehealth.com/image-gallery/ataxia_telangiectasia_picture/images.htm

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), ...

https://www.wikigenes.org/e/mesh/e/6270.html

Gene Immunodeficiency Genetic Blood vessels Children's Project Features of Ataxia-Telangiectasia Treatment of Ataxia Telangiectasia Diseases Genetics Disorder characterized Human autosomal recessive disorder Symptoms Hereditary Cerebellar degeneration Movements Alpha-fetoprotein Susceptibility Patients with ataxia Heterozygotes Ionizing radiation Manifestations Protein kinase Cutaneous Neurological Oculocutaneous telangiectasia Disease Syndrome mimicking ataxia-tela Diagnosis of ataxia-telangiectasia People with ataxia-telangiectasia Carriers of ataxia-telangiectasia Responsible for ataxia telangiectasia Chromosome Hypersensitivity Predisposition Abnormalities Immune ATLD Infections Neurodegenerative disorder Degeneration Gait ataxia Incidence Recessive Whites of the eyes 2017 Oculomotor Ocular telangiectasia Progressive Neurodegeneration Onset Mutations in the ataxia Kinase 100,000 Conjunctival

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)

Diseases10

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes6

Disciplines and Occupations7

Anthropology, Education, Sociology and Social Phenomena1

Information Science1

Health Care3

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

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

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

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

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

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

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

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

Dictionaries, Medical

Ataxia Telangiectasia

Ataxia Telangiectasia Mutated Proteins

Telangiectasis

Metabolic Syndrome X

Telangiectasia, Hereditary Hemorrhagic

Ataxia

Cardiology

Sleep Medicine Specialty

Emergency Medicine

Gastroenterology

Endocrinology

Nephrology

Neurology

Insurance, Disability

United States Social Security Administration

Photosensitivity Disorders

Sunlight

Tumor Suppressor Proteins

Cerebellar Ataxia

Oxidative Stress

DNA Damage

DNA Breaks, Double-Stranded

Protein-Serine-Threonine Kinases

DNA Repair

Spinocerebellar Degenerations

Asymptomatic Infections

Reflex, Stretch

Diabetes Mellitus, Lipoatrophic

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

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

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

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

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

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

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

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

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

Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress<...

Ataxia Telangiectasia (AT) Pipeline Insight, 2020 By DelveInsight - Vizag Herald

DHFR gene amplification in cultured skin fibroblasts of ataxia telangiectasia patients after methotrexate selection<...

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. | Journal of Medical...

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy<...

Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients - Full Text View - ClinicalTrials.gov

Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients - Full Text View - ClinicalTrials.gov

Plus it

Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs | PNAS

Incidence of cancer in 161 families affected by ataxia-telangiectasia

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia<...

ATM gene mutations in sporadic breast cancer patients from Brazil | SpringerPlus | Full Text

Ataxia Telangiectasia & Immunoglobulin M Decreased: Causes & Reasons - Symptoma

The most insightful stories about Ataxia Telangiectasia - Medium

Ataxia-telangiectasia synonyms, Ataxia-telangiectasia antonyms - FreeThesaurus.com

Member Update

Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia A-T Patients Using a LC-MS-Based Label-Free...

Phospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia

This Week in Science | Science

ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome

Targeting the Ataxia Telangiectasia Mutated (ATM) kinase for alleviating cancer

ABOUT US - Action for A-T - Funding Research into Ataxia Telangiectasia

Ataxia Telangiectasia - National Cancer Institute

How Ionizing Radiation Stops S Phase | Science Signaling

Ataxia-telangiectasia - Wikipedia

Ataxia - Telangiectasia: Diseases and Conditions | Pediatric Oncall

A DIFFUSABLE CLASTOGENIC FACTOR IN ATAXIA TELANGIECTASIA - Search results - Pascal and Francis Bibliographic Databases

Introduction The ataxia-telangiectasia mutated (ATM) gene (MIM Identification 208900) encodes a | Inhibition of DNA...

Louis-Bar Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill Medical

The effect of ataxia-telangiectasia mutated kinase-dependent hyperphos | OTT

NIOSHTIC-2 Publications Search - 20000997 - Heterogeneity in the clastogenic response to x-rays in lymphocytes from Ataxia...

Ataxia-Telangiectasia | Immune Deficiency Foundation

Keio University spins out venture Methuselah, aiming at fibroblast production | window-to-japan.eu

Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia | SpringerLink

Volume 7.43 | Oct 30 - Neural Cell News

ataxia telangiectasia - oi

9th Annual Pasta Bar for a Cure of Ataxia Telangiectasia | Visit Sarasota

Disease InfoSearch - Ataxia Telangiectasia - Definition, causes, resources and support information

ataxia telangiectasia | HealthInfi

Download Fortschritte Der Chemie Organischer Naturstoffe Progress In The Chemistry Of Organic Natural Products Progres Dans La...

Recently added

Apurinic DNA endonuclease activities in repair-deficient human cell lines<...