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Topic: Ataxia telangiectasia mutated

	Ataxia Telangiectasia: Fact Sheet - National Cancer Institute
		Ataxia telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body.
		Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life.
		NCI is sponsoring a wide variety of research on A-T, DNA mutations and repair, and the interaction between ATM and mutations in BRCA1 and 2 (breast cancer susceptibility genes).
	www.cancer.gov /cancertopics/factsheet/ataxiaqa (1824 words)

	Ataxia telangiectasia - Wikipedia, the free encyclopedia
		AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction (Boder, 1958).
		Oculo-cutaneous telangiectasia is often not obvious in the early stages of the disease.
		Carriers of ATM missense mutations are believed to have a 60% penetrance by age 70 and a risk of breast cancer 16x that of the normal population.
	en.wikipedia.org /wiki/Ataxia_telangiectasia (1580 words)

	Human protein: Q13315 - Serine-protein kinase ATM (EC ) (Ataxia telangiectasia mutated) (A-T, mutated). EMBL ...
		Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
		Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.
		Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
	harvester.embl.de /harvester/Q133/Q13315.htm (2229 words)

	ATM - ataxia telangiectasia mutated - Genetics Home Reference
		The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide.
		ataxia-telangiectasia - caused by mutations in the ATM gene
		Studies have found that having a mutation in one copy of the ATM gene in each cell (particularly in people who have at least one family member with ataxia-telangiectasia) is associated with an increased risk of developing breast cancer.
	ghr.nlm.nih.gov /gene=atm (827 words)

	Ataxia (Ataxia-telangiectasia)
		Friedreich's Ataxia (FA) is the most common inherited ataxia, with symptoms generally appearing between the ages of 8 and 15.
		Ataxia can be caused by birth trauma, a congenital disorder, infection, a degenerative disorder, tumor, exposure to a toxic substance, or head injury.
		Congenital ataxia is an autosomal recessive disease, which means that both parents must carry the defective gene and a child must inherit one defective gene copy from each parent to develop symptoms.
	www.hmc.psu.edu /childrens/healthinfo/a/ataxia.htm (1093 words)

	Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and ... (Site not responding. Last check: 2007-10-15)
		Biallelic mutations in the ATM gene in T-prolymphocytic leukaemia.
		Inactivation of the ATM gene in T-cell prolymphocytic leukaemia.
		ATM mutations and phenotypes in A-T families in the British Isles: expression of mutant ATM and the risk of leukaemia, lymphoma and breast cancer.
	www.bloodjournal.org /cgi/content/full/99/1/300 (7468 words)

	eMedicine - Ataxia-Telangiectasia : Article by Sergiusz Jozwiak, MD, PhD (Site not responding. Last check: 2007-10-15)
		From this early stage, ataxia is associated with abnormal head movements and is slowly and steadily progressive; however, the normal development of motor skills between ages 2-5 years tends to mask the progression of ataxia, so that parents may report an actual improvement in gait.
		The observation that approximately 70% of mutations in the ATM gene known to date appear to encode truncated proteins with premature stop codons will allow for application of such assays as the protein truncation test, which is capable of detecting a single mutated allele.
		Foray N, Priestley A, Alsbeih G, et al: Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks.
	www.emedicine.com /derm/topic691.htm (6435 words)

	BioCarta - Charting Pathways of Life
		The ataxia telangiectasia-mutated gene (ATM) encodes a protein kinase that acts as a tumor suppressor.
		ATM activation by ionizing radiation damage to DNA stimulates DNA repair and blocks progression through the cell cycle.
		Mutation of the ATM gene causes the disease ataxia telangiectasia which which involves an inherited predisposition to some cancers.
	www.biocarta.com /pathfiles/atmPathway.asp (106 words)

	ATM (Ataxia Telangiectasia Mutated) Gene DNA Testing
		Germline mutations in the ATM gene cause the autosomal recessive neurological disease ataxia telangiectasia, which is characterized by progressive cerebellar degeneration, immunodeficiency, radiation sensitivity, and a predisposition to cancer development.
		Identification of both ATM gene mutations in A-T patients may permit identification of carriers in these families.
		Identification of heterozygous ATM mutations may also identify individuals with an increased risk for certain leukemias and lymphomas.
	www.cityofhope.org /cmdl/ATM.asp (94 words)

	ATM (ataxia telangiectasia mutated)
		Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.
		Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
		Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
	atlasgeneticsoncology.org /Genes/ATM123.html (977 words)

	Immunoassay to Measure Ataxia-Telangiectasia Mutated Protein in Cellular Lysates -- Butch et al. 50 (12): 2302 -- ...
		by mutations in the ataxia-telangiectasia mutated (ATM) gene
		the ATM protein immunoassay was linear between 640 and 20 µg/L, with a correlation coefficient of 0.99 (Fig.
		Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer.
	www.clinchem.org /cgi/content/full/50/12/2302 (3542 words)

	Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in ...
		mutated (ATM) gene that is responsible for ataxia telangiectasia
		that full-length ATM phosphorylates c-Abl in vitro or that phosphorylation
		to have 1 wild-type allele and 1 truncation mutation of the
	www.bloodjournal.org /cgi/content/full/103/1/283 (6446 words)

	ATM - Ataxia telangiectasia mutated (includes complementation groups A, C and D) - aka: ATA, ATC - Cancer GeneticsWeb
		ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of Am J Hum Genet 1998;62(2):334-45
		The ATM gene in the pathogenesis of mantle-cell lymphoma.
		Mantle cell lymphoma is characterized by inactivation of the ATM gene.
	www.cancerindex.org /geneweb/ATM.htm (613 words)

	GeneCard for ATM
		Becker-Catania S.G. Gatti R.A. Mantle cell lymphoma is characterized by inactivation of the ATM gene.
		Cortez D. Elledge S.J. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
		Lim D.-S. Kastan M.B. Inactivation of the ATM gene in T-cell prolymphocytic leukemias.
	www.genecards.org /cgi-bin/carddisp.pl?gene=ATM&search=ATM&suff=txt (1794 words)

	Ataxia Telangiectasia Mutated Expression and Activation in the Testis -- Hamer et al. 70 (4): 1206 -- Biology of ...
		Ataxia Telangiectasia Mutated Expression and Activation in the Testis -- Hamer et al.
		Ataxia Telangiectasia Mutated Expression and Activation in the Testis
		and ATM in the spermatocytes are differentially regulated.
	www.biolreprod.org /cgi/content/abstract/70/4/1206 (484 words)

	Ataxia-Telangiectasia Mutated Gene Controls Insulin-Like Growth Factor I Receptor Gene Expression in a Deoxyribonucleic ...
		The ataxia-telangiectasia mutated (ATM) gene encodes a 350-kDa
		ATM (ATM –/–) (column 1, open bar) cells were transfected with 1 µg of the p(–476/+640)LUC IGF-IR promoter reporter construct and 0.2 µg of the pCMVß plasmid, using the Metafectene transfection reagent (Biontex Laboratories GmbH, Munich, Germany).
		ATM (ATM –/–) and 293lacZ (ATM +/+) cells were transfected with 1 µg of a WT1 promoter luciferase reporter plasmid along with 0.2 µg of a ß-galactosidase control plasmid, using the Metafectene reagent.
	endo.endojournals.org /cgi/content/full/145/12/5679 (6376 words)

	InteliHealth:
		Ataxia telangiectasia (A-T) is a rare but deadly childhood disease that primarily affects the brain and immune system.
		If someone inherits two changes (one from mother and one from father) in the ATM gene, the child will not be able to make enough of the ATM protein, which is critical for proper growth and maintenance of the body.
		The trade-off is that mutation scanning is more likely to miss a change in the gene as compared to sequencing.
	www.intellihealth.com /IH/ihtIH/WSIHW000/32193/36983.html (2464 words)

	GeneCard for ATM (Site not responding. Last check: 2007-10-15)
		The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
		The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
		ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?ATM (1043 words)

	Topoisomerase poisons differentially activate DNA damage checkpoints through ataxia-telangiectasia mutated-dependent ...
		is not influenced by the absence of ATM.
		was not affected by the absence of ATM (Fig.
		Inhibition of ATM and ATR kinase activities by the radiosensitizing agent, caffeine.
	mct.aacrjournals.org /cgi/content/full/3/5/621 (5759 words)

	Mutated forms of the ataxia-telangiectasia gene and method to screen for a partial A-T phenotype
		A mutated form of the nucleic acid sequence in SEQ ID No:11 wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred such that the resulting sequence is altered to produce a truncated protein or no protein initiation occurs and thereby ataxia-telangiectasia.
		The mutated nucleic acid sequence of claim 1 wherein the mutation events are those set forth in Table 3.
		The mutated nucleic acid sequence of claim 1 wherein a mutation event selected from the group consisting of point mutations, deletions and insertions has occurred such that the encoded amino acid sequence is truncated to produce ataxia-telangiectasia.
	www.newsdrip.com /200/mutated_forms_of_the_ataxia-telangiectasia_gene_and_method_to_6200749.html (970 words)

	Genetic Polymorphisms of Ataxia Telangiectasia Mutated and Breast Cancer Risk -- Lee et al. 14 (4): 821 -- Cancer ...
		Shiloh Y. ATM (ataxia telangiectasia mutated): expanding roles in the DNA damage response and cellular homeostasis.
		ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.
		ATM missense mutations are frequent in patients with breast cancer.
	cebp.aacrjournals.org /cgi/content/full/14/4/821 (2635 words)

	Ataxia Telangiectasia Mutated-Dependent Apoptosis after Genotoxic Stress in the Developing Nervous System Is Determined ...
		Ataxia Telangiectasia Mutated-Dependent Apoptosis after Genotoxic Stress in the Developing Nervous System Is Determined by Cellular Differentiation Status -- Lee et al.
		Ataxia Telangiectasia Mutated-Dependent Apoptosis after Genotoxic Stress in the Developing Nervous System Is Determined by Cellular Differentiation Status
		Ataxia-telangiectasia (A-T) is a neurodegenerative syndrome resulting from dysfunction of ATM (ataxia telangiectasia mutated).
	www.jneurosci.org /cgi/content/abstract/21/17/6687 (438 words)

	ATM (ataxia telangiectasia mutated)
		various types of mutations have been described, dispersed throughout the gene, and therefore most patients are compound heterozygotes; most mutations appear to inactivate the ATM protein by truncation, large deletions, or annulation of initiation or termination, although missense mutations have been described in the PI3 kinase domain and the leucine zipper motif.
		ataxia telangiectasia is a progressive cerebellar degenerative disease with telangiectasia, immunodeficiency, cancer risk, radiosensitivity, and chromosomal instability
		The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene.
	www.infobiogen.fr /services/chromcancer/Genes/ATM123.html (972 words)

	Short Telomeres and Ataxia-Telangiectasia Mutated Deficiency Cooperatively Increase Telomere Dysfunction and Suppress ...
		The increase in survival of the mice was not attributable to
		We propose that in the absence of Atm, the
		Ataxia telangiectasia mutated (Atm) is not required for telomerase-mediated elongation of short telomeres
	cancerres.aacrjournals.org /cgi/content/full/63/23/8188 (5857 words)

	ATM - ataxia telangiectasia mutated (includes complementation groups A, C and D)
		ATM - ataxia telangiectasia mutated (includes complementation groups A, C and D) Human Prostate Gene DataBase
		The mutations of this gene are associated with ataxia telangiectasia, an autosomal recessive disorder.
		Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4acute and/or late tissue radiation side effects.
	www.ucsf.edu /pgdb/gene/177.html (255 words)

	Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk -- Kim et al. 15 (7): 1181 -- Human ...
		Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk -- Kim et al.
		The ataxia telangiectasia mutated (ATM) gene is known to be
		ATM gene play an important role in the development of lung cancer.
	hmg.oxfordjournals.org /cgi/content/short/15/7/1181?rss=1 (342 words)

	Ataxia Telangiectasia Mutated Deficiency Affects Astrocyte Growth but not Radiosensitivity -- Gosink et al. 59 (20): ...
		Ataxia Telangiectasia Mutated Deficiency Affects Astrocyte Growth but not Radiosensitivity -- Gosink et al.
		Ataxia Telangiectasia Mutated Deficiency Affects Astrocyte Growth but not Radiosensitivity
		of Atm in cellular growth and radiosensitivity is distinct.
	cancerres.aacrjournals.org /cgi/content/abstract/59/20/5294 (274 words)

	ATAXIA-TELANGIECTASIA (A-T) A-T Appeal ATAXIA-TELANGIECTASIA (A-T) What Is ATAXIA-TELANGIECTASIA (A-T)
		The ATM protein (product) is believed to play a crucial role in regulating the cell cycle, and in preventing damaged DNA from being reproduced.
		It is thought that ATM is involved in sending messages to several other regulating proteins.
		The ATM gene is located on the long arm of chromosome 11 (11q22-23).
	www.atappeal.org.uk /whatisat.htm (782 words)

	MedlinePlus: Ataxia Telangiectasia
		The primary NIH organization for research on Ataxia Telangiectasia is the National Institute of Neurological Disorders and Stroke
		Article: Glutathione levels in blood from ataxia telangiectasia patients suggest in...
		Article: Correction of prototypic ATM splicing mutations and aberrant ATM function...
	www.nlm.nih.gov /medlineplus/ataxiatelangiectasia.html (188 words)

	The ATM gene and its putative association with human ageing
		ATM is involved in DNA repair and cell cycle control.
		In mice, mutations in ATM and TERC appear to accelerate ageing [0012].
		Mutations in human ATM cause ataxia telangiectasia [0190], an early-onset disease some argue is characterized by signs of premature ageing [0238].
	genomics.senescence.info /genes/entry.php?id=9 (682 words)

	Chromium (VI) Activates Ataxia Telangiectasia Mutated (ATM) Protein. REQUIREMENT OF ATM FOR BOTH APOPTOSIS AND RECOVERY ...
		Chromium (VI) Activates Ataxia Telangiectasia Mutated (ATM) Protein.
		In summary, ATM is involved in cellular response to a complex
		Activation of Ataxia Telangiectasia Mutated by DNA Strand Break-inducing Agents Correlates Closely with the Number of DNA Double Strand Breaks
	www.jbc.org /cgi/content/abstract/278/20/17885 (651 words)

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