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Displaying 39-52 of 52 results

1020 Exhibit: Broughton 1995

Document IPR2014-01315, No. 1020 Exhibit - Broughton 1995 (P.T.A.B. Aug. 18, 2014)
H. J. Hoeijmakers,2 E. Botta,3 M. Stefanini,3 M. D. King,4 C. A. Weber,5 J. Cole,' C. F. Arlett,' and A. R. Lehmann' MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton; 2Department of Cell Biology and Genetics, Erasmus University, Rotterdam; 'Istituto di Genetica, Biochimica ed Evoluzionistica, Pavia; 4The Children's Hospital, Temple Street, Dublin; and 5Lawrence Livermore National Laboratory, Biology and Biotechnology Research Program, Livermore CA Summary Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA dam- age.
Introduction Deficiencies in excision repair of DNA damage produced by exposure to UV light are associated with three human genetic disorders: xeroderma pigmentosum (XP), Cock- ayne syndrome (CS), and trichothiodystrophy (TTD).
Magnetic-resonance imaging of the brain showed both mild ventricular dilatation with de- layed myelination throughout the hemispheric white matter tracts and areas of increased signal in the periven- tricular region, particularly adjacent to the anterior horns of the ventricles.
Proc Natl Acad Sci USA 87:4707-4711 Vermeulen W, Jaeken J, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ (1993) Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Cold Spring Harb Symp Quant Biol (in press) Weber CA, Salazar EP, Stewart SA, Thompson LH (1990) ERCC- 2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast
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1036 Exhibit: Papdopoulos 1994

Document IPR2014-01315, No. 1036 Exhibit - Papdopoulos 1994 (P.T.A.B. Aug. 18, 2014)
22 November 1993; accepted 24 January 1994 on May 20, 2014 on May 20, 2014 on May 20, 2014 on May 20, 2014 on May 20, 2014 www.sciencemag.org www.sciencemag.org www.sciencemag.org www.sciencemag.org www.sciencemag.org Mutation of a mutL Homolog in Hereditary Colon Cancer Nickolas Papadopoulos,* Nicholas C. Nicolaides,* Ying-Fei Wei, Steven M. Ruben, Kenneth C. Carter, Craig A. Rosen, William A. Haseltine, Robert D. Fleischmann, Claire M. Fraser, Mark D. Adams, J. Craig Venter, Stanley R. Hamilton, Gloria M. Petersen, Patrice Watson, Henry T. Lynch, Paivi Peltomaki, Jukka-Pekka Mecklin, Albert de la Chapelle, Kenneth W. Kinzler,f Bert Vogelstein Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene.
We determined the conversion rate for each in- sertion site by crossing males bearing the whd allele [whdtk17 in previous work (20)], one copy of P[walter], and the A2-3 transposase source (14) with C(1)DX,y ffemales (21) and scoring the progeny as described (9).
In addition, EST sequencing, Northern (RNA) blots, and RT-PCR analyses showed that the hMLHI gene is expressed in many tissues lymphocytes, including breast, colon, lung, spleen, testes, prostate, thyroid, gall bladder, and heart, in keeping with its presumptive housekeeping function.
Each of these kindreds met the International Collabora- tive Group criteria for HNPCC [three fam- ily members affected with colorectal cancer, at least two generations involved, at least one patient under 50 years of age at diag- nosis (26)].
Supported by the Clayton Fund, the Folkhasan Institute of Genetics, the Academy of Finland, the Sigrid Juselius Foundation, the Nebraska State Health Department of Cancer, the Council for Tobacco Research, and NIH grants CA35494, CA47527, and CA57435.
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1032 Exhibit: LOVD MutY

Document IPR2014-01315, No. 1032 Exhibit - LOVD MutY (P.T.A.B. Aug. 18, 2014)

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1031 Exhibit: NCBI Variation Viewer

Document IPR2014-01315, No. 1031 Exhibit - NCBI Variation Viewer (P.T.A.B. Aug. 18, 2014)
Genes, NCBI Homo sapiens Annotation Release 106 ClinVar Short Variations based on dbSNP 141 (Homo sapiens Annotation Release 106) dbSNP 141 (Homo sapiens Annotation Release 106) all data Region MUTYH
Your Data History Region Details Features of Interest Other sequence representations - None No GRC issues in this view Add Track Variation Data Filter by Source database dbSNP (428) dbVar (30) In ClinVar Yes (27) No (431) Worst clinical significance Pathogenic (7) Likely pathogenic (2) other (2) risk factor (0) association (0) More...
| Download Items 1 - 20 of 458 << First < Prev Page 1 of 23 Next > Last >> Variant ID Location Variant type Gene Molecular consequences Worst clinical significance
Items 1 - 20 of 458 << First < Prev Page 1 of 23 Next > Last >> You are here: NCBI > Variation Viewer - NCBI http://www.ncbi.nlm.nih.gov/variation/view/ Write to the Help Desk 1 / 2
Genetic Testing Registry PubMed Health GenBank Reference Sequences Gene Expression Omnibus Map Viewer Human Genome Mouse Genome Influenza Virus Primer-BLAST Sequence Read Archive Copyright | Disclaimer | Privacy | Browsers | Accessibility | Contact National Center for Biotechnology Information, U.S. National Library of Medicine 8600 Rockville Pike, Bethesda MD, 20894 USA
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1001 Exhibit: US Patent No7,470,510

Document IPR2014-01315, No. 1001 Exhibit - US Patent No7,470,510 (P.T.A.B. Aug. 18, 2014)
Accordingly, there exists a need in the art or identi?cation and characterization of genes and proteins Which modulate the human cellular mutation rate, for use as, among other things, markers in cancer and diseases associated With DNA The G0 system includes 7,8-dihydro-8-oxoguanine, the structure of the predominant tautomeric form of the GO lesion.
In accordance With a further aspect of the invention is a process for diagnosing a cancer comprising determining from a sample derived from a patient a decreased level of expres sion of a gene encoding a polynucleotide having the sequence of SEQ ID N019.
Methods commonly employed to determine identity or simi larity betWeen tWo sequences include, but are not limited to disclosed in Guide to Huge Computers, Martin J. Bishop, ed., Academic Press, San Diego, 1994, and Carillo, H., and Lip man, D., SIAM J.
Useful expression vectors for bacterial use are constructed by inserting a structural DNA sequence encoding a desired protein together with suitable translation initiation and termi nation signals in operable reading phase with a functional promoter.
Suitable prokaryotic hosts for trans formation include E. coli, Bacillus sublilis, Salmonella typh imurium and various species within the genera Pseudomonas, Slreplomyces, and Staphylococcus, although others may also be employed as a matter of choice.
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1004 Exhibit: Slupska 1996

Document IPR2014-01315, No. 1004 Exhibit - Slupska 1996 (P.T.A.B. Aug. 18, 2014)

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1029 Exhibit: US Patent Application No 60013,132

Document IPR2014-01315, No. 1029 Exhibit - US Patent Application No 60013,132 (P.T.A.B. Aug. 18, 2014)

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1037 Exhibit: Fishel 1993

Document IPR2014-01315, No. 1037 Exhibit - Fishel 1993 (P.T.A.B. Aug. 18, 2014)

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1007 Exhibit: McGoldrick 1995

Document IPR2014-01315, No. 1007 Exhibit - McGoldrick 1995 (P.T.A.B. Aug. 18, 2014)

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1013 Exhibit: Sakumi 1993

Document IPR2014-01315, No. 1013 Exhibit - Sakumi 1993 (P.T.A.B. Aug. 18, 2014)

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1021 Exhibit: Debenham 1987

Document IPR2014-01315, No. 1021 Exhibit - Debenham 1987 (P.T.A.B. Aug. 18, 2014)

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1023 Exhibit: Ferrie 1992

Document IPR2014-01315, No. 1023 Exhibit - Ferrie 1992 (P.T.A.B. Aug. 18, 2014)

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1033 Exhibit: File History of US Patent No 7,470,510

Document IPR2014-01315, No. 1033 Exhibit - File History of US Patent No 7,470,510 (P.T.A.B. Aug. 18, 2014)

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1009 Exhibit: Watson 1992

Document IPR2014-01315, No. 1009 Exhibit - Watson 1992 (P.T.A.B. Aug. 18, 2014)

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