Ataxia-telangiectasia: mutations in the ATM gene

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Patent

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

435 912, 4351721, 536 231, 536 235, 536 2431, 536 2433, C12Q 168, C12P 1934, C07H 2104

Patent

active

059552794

ABSTRACT:
The invention is related to ataxia-telangiectasia, specifically, mutations in the ataxia-telangiectasia mutated gene.

REFERENCES:
patent: 5225546 (1993-07-01), Dryja et al.
patent: 5380645 (1995-01-01), Vogelstein
patent: 5382510 (1995-01-01), Levine et al.
patent: 5407796 (1995-04-01), Cutting et al.
patent: 5728807 (1998-03-01), Shiloh et al.
patent: 5756288 (1998-05-01), Shiloh
Science, Vo. 268, Jun. 23, 1995, A Single Ataxia Telangiectasia Gene with a Product Similar to Pl-3 Kinase, pp. 1749-1753, XP-002061971.
Human Molecular Genetics, 1996, Vo. 5, No. 1, 145-149, Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia, P.J. Byrd, et al., XP-002061972.
Human Molecular Genetics, 1996, Vo. , No. 4, 433-439, Predominance of null mutations in ataxia-telangiectasia, Shlomit Gilad et al., CP-002061973.
Human Molecular Genetics, 1995, Vo. 4, No. 11 2025-2032, The Complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species, Kinneret Savitsky, et al. XP-002061974.
American Journal of Human Genetics, 57:103-111, 1995, Sublocalization of an Ataxia-Telangiectasia Gene Distal to D11S384 by Ancestral Haplotyping in Costra Rican Families, Nancy Uhrhammer, et al., XP-002061975.
Human Molecular Genetics, 1993, Vo. 2, No. 10, 1719-1721, Protein truncation test (PTT) for rapid detection of translation-terminating mutations, Pauline A.M. Roest, et al. XP-002061976.
European Journal of Human Genetics, P.D. Dec. 2, 1991, p. 1955, Linkage analyses with 11q23 markers in Norwegian AT families, Berresen, A.L. et al. XP-002061977.
Genomics 33, 317-320 (1996), Genomic Organization of the ATM Gene, Tamar Uziel, et al. XP-002061978.
European Journal of Human Genetics, 1996, 4:352-355, Exon-Scanning Mutation Analysis of the ATM Gene in Patients with Ataxia-Telangiectasia, XP-002061979.
American Journal of Human Genetics, 59:40-44, 1996, Ataxia-Telangiectasia: Mutation in ATM cDNA Detected by Protein-Truncation Screening, Milhan Telatar, et al., XP-002061980.
American Journal of Human Genetics, 59:320-330, 1996, Mutations Associated with Variant Phenotypes in Ataxia-Telangiectasia, Carmel M. McConville, et al., XP-002061981.
American Journal of Human Genetics, 59:839-846, 1996, A High Frequency of DistincT ATM Gene Mutations in Ataxia-Telangiectasia, Jocyndra Wright, et al., XP-002061982.
American Journal of Human Genetics, 62:86-97, 1998, Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations, Milhan Telatar, et al., XP-002061983.
Rojanasakul, Antisense Oligonucleotide Therapeutics: Drug Delivery and Targeting, Advanced Drug Delivery Reviews 18 (1996) 115-131, 1996.
Athma, P., et al. (1996) Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Cenet Cytogenet 92:130-134.
Baumer, A., et al. (1996) New mutations in the ataxia telangiectasia gene. Hum Genet 98:246-249.
Beamish, H., et al. (1994) Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay. Int. J. Radiat. Biol. 65(2):175-184.
Boder, E., et al. (1958) Ataxia-Telangiectasia. Pediatrics 21:526-554.
Boice, J., et al. (1977) Breast cancer in women after repeated fluoroscopic examinations of the chest. J. Natl. Cancer Inst. 59(3):823-832.
Boice, J., et al. (1978) Estimation of breast doses and breast cancer risk associated with repeated fluoroscopic chest examinations of women with tuberculosis. Radiation Research 73:373-390.
Bootsma, D., et al. (1995) Nucleotide excision repair syndrome: molecular basis and clinical symptoms. Phil. Trans. R. Soc. Lond.B 347:75-81.
Borresen, A., et al. (1990) Breast Cancer and other cancers in norwegian families with ataxia-telangiectasia. Genes, Chromosomes & Cancer 2:339-340.
Byrd, P.J., et al. (1996) Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. Human Molecular Genetics 5(1): 145-149.
Chomczynski, P., et al. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry 162:156-159.
Cortessis, V., et al., (1993) Linkage analysis of DRD2, a marker linked to the ataxia-telangiectasia gene, in 64 families with premenopausal bilateral breast cancer, Cancer Research 53:5083-5086.
Curry, C., et al. (1989) ATfresno: a phenotype linking ataxia-telangiectasia with the nijmegen breakage syndrome. Am. J. Hum. Genet. 45:270-275.
Easton, D.F. (1994) Cancer risks in A-T heterozygotes. Int. J. Radiat. Biol. 66(6):S177-S182.
Ganguly, A., et al. (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments . . . Proc. Natl. Acad. Sci. 90:10325-10329.
Gatti, R., et al. (1991) Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 70(2):99-117.
Gatti, R., et al. (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577-580.
Gatti, R., et al. (1994) Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an 850 kb region on chromosome 11q23.1. Int. J. Radiat. Biol. 66(6):S57-S62.
Gilad, S., et al. (1996) Ataxia-telangiectasia: founder effect among north african jews. Human Molecular Genetics 5(12):2033-2037.
Gilad, S., et al. (1996) Predominance of null mutations in ataxia-telangiectasia. Human Molecular Genetics 5(4):433-439.
Hari, K., et al. (1995) The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell 82:815-821.
Hawkins, J.D. (1991) Gene Structure and Expression, 2d ed. Cambridge University Press, Cambridge, pp. 98-134.
Hogervorst, F., et al. (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genetics 10:208-212.
Huo, Y., et al. (1994) Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Research 54:2544-2547.
Jaspers, N., et al. (1988) Genetic complementation analysis of ataxia telangiectasia and nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 49:259-263.
Keegan, K., et al. (1996) The Atr and Atm protein kinases associate with difference sites along meiotically pairing chromosomes. Genes & Development 10:2423-2437.
Keith, C., et al. (1995) PIK-related kinases: DNA repair, recombination, and cell cycle checkpoints. Science 270:50-51.
Lange, E., et al. (1995) Localization of an ataxia-telangiectasia gene to an 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am. J. Hum. Genet. 57:112-119.
Lavin, M., et al. (1995) Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase. TIBS 20:382-383.
Lehmann, A., et al. (1995) The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer. TIG 11(10):375-377.
Lehmann, A.R., et al. (1986) A derivative of an ataxia-telangiectasia (A-T) cell line with normal radiosensitivity but A-T-like inhibition of DNA synthesis. Int. J. Radiat. Biol. 49(4):639-643.
Liu, Q., et al. (1995) Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. BioTechniques 18(3):470-477.
McConville, C., et al. (1996) Mutations associated with variant phenotypes in ataxia-telangiectasia. Am. J. Hum. Genet. 59:320-330.
Meyn, S. (1990) Marked elevation of intrachromosomal mitotic recombination: a new facet of the ataxia telangiectasia phenotype. Cancer Genetics A13 12.9.
Meyn, S. (1993) high spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 260:1327-1330.
Meyn, S. (1995) Ataxia-telangiectasia and cellular responses to DNA damage. Cancer Research 55:5991-6001.
Morrow, D., et al. (1995) TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell 82:831-840.
Mulligan, R., et al. (1993) The basic science of gene therapy. Sc

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Ataxia-telangiectasia: mutations in the ATM gene does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Ataxia-telangiectasia: mutations in the ATM gene, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Ataxia-telangiectasia: mutations in the ATM gene will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-78997

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.