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Index > Protein center > MSH6(Gene name) > Human
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  • MSH6 (Gene name),
  • DNA mismatch repair protein Msh6 (Protein name ),  MSH6_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Vaild Sequence
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  • Gene name:
    MSH6(GTBP);
    Protein name:
    DNA mismatch repair protein Msh6(hMSH6);
    Alternative:
    MutS-alpha 160 kDa subunit(p160);G/T mismatch-binding protein(GTBP;GTMBP);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR.
    Function:
    Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair.
    Subcellular Location:
    Nucleus
    Protein Attributes:
    Sequence length:
    1360
    Sequence:
    50:
    MSRQSTLYSF | FPKSPALSDA | NKASARASRE | GGRAAAAPGA | SPSPGGDAAW | 
    100:
    SEAGPGPRPL | ARSASPPKAK | NLNGGLRRSV | APAAPTSCDF | SPGDLVWAKM | 
    150:
    EGYPWWPCLV | YNHPFDGTFI | REKGKSVRVH | VQFFDDSPTR | GWVSKRLLKP | 
    200:
    YTGSKSKEAQ | KGGHFYSAKP | EILRAMQRAD | EALNKDKIKR | LELAVCDEPS | 
    250:
    EPEEEEEMEV | GTTYVTDKSE | EDNEIESEEE | VQPKTQGSRR | SSRQIKKRRV | 
    300:
    ISDSESDIGG | SDVEFKPDTK | EEGSSDEISS | GVGDSESEGL | NSPVKVARKR | 
    350:
    KRMVTGNGSL | KRKSSRKETP | SATKQATSIS | SETKNTLRAF | SAPQNSESQA | 
    400:
    HVSGGGDDSS | RPTVWYHETL | EWLKEEKRRD | EHRRRPDHPD | FDASTLYVPE | 
    450:
    DFLNSCTPGM | RKWWQIKSQN | FDLVICYKVG | KFYELYHMDA | LIGVSELGLV | 
    500:
    FMKGNWAHSG | FPEIAFGRYS | DSLVQKGYKV | ARVEQTETPE | MMEARCRKMA | 
    550:
    HISKYDRVVR | REICRIITKG | TQTYSVLEGD | PSENYSKYLL | SLKEKEEDSS | 
    600:
    GHTRAYGVCF | VDTSLGKFFI | GQFSDDRHCS | RFRTLVAHYP | PVQVLFEKGN | 
    650:
    LSKETKTILK | SSLSCSLQEG | LIPGSQFWDA | SKTLRTLLEE | EYFREKLSDG | 
    700:
    IGVMLPQVLK | GMTSESDSIG | LTPGEKSELA | LSALGGCVFY | LKKCLIDQEL | 
    750:
    LSMANFEEYI | PLDSDTVSTT | RSGAIFTKAY | QRMVLDAVTL | NNLEIFLNGT | 
    800:
    NGSTEGTLLE | RVDTCHTPFG | KRLLKQWLCA | PLCNHYAIND | RLDAIEDLMV | 
    850:
    VPDKISEVVE | LLKKLPDLER | LLSKIHNVGS | PLKSQNHPDS | RAIMYEETTY | 
    900:
    SKKKIIDFLS | ALEGFKVMCK | IIGIMEEVAD | GFKSKILKQV | ISLQTKNPEG | 
    950:
    RFPDLTVELN | RWDTAFDHEK | ARKTGLITPK | AGFDSDYDQA | LADIRENEQS | 
    1000:
    LLEYLEKQRN | RIGCRTIVYW | GIGRNRYQLE | IPENFTTRNL | PEEYELKSTK | 
    1050:
    KGCKRYWTKT | IEKKLANLIN | AEERRDVSLK | DCMRRLFYNF | DKNYKDWQSA | 
    1100:
    VECIAVLDVL | LCLANYSRGG | DGPMCRPVIL | LPEDTPPFLE | LKGSRHPCIT | 
    1150:
    KTFFGDDFIP | NDILIGCEEE | EQENGKAYCV | LVTGPNMGGK | STLMRQAGLL | 
    1200:
    AVMAQMGCYV | PAEVCRLTPI | DRVFTRLGAS | DRIMSGESTF | FVELSETASI | 
    1250:
    LMHATAHSLV | LVDELGRGTA | TFDGTAIANA | VVKELAETIK | CRTLFSTHYH | 
    1300:
    SLVEDYSQNV | AVRLGHMACM | VENECEDPSQ | ETITFLYKFI | KGACPKSYGF | 
    1350:
    NAARLANLPE | EVIQKGHRKA | REFEKMNQSL | RLFREVCLAS | ERSTVDAEAV | 
    1360:
    HKLLTLIKEL | 
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    MIM:
    Pfam:
    MIM:
    UniGene:
    SMR:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human hMSH6
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    ELISA Kit for Human hMSH6
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    CLIA Kit for Human hMSH6
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    CLIA Kit for Human hMSH6
    Cat.:
    U2360h
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human hMSH6
    Cat.:
    P2360Rb-h
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    Packing:
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    Polyclonal Antibody for Human hMSH6
    Cat.:
    P2360Rb-m
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human hMSH6
    Monoclonal Antibody for Human hMSH6
    Protein for Human hMSH6
    Protein for Human hMSH6

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
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    2. 2.
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      Shiwaku H.O. , Wakatsuki S. , Mori Y. , Fukushige S. , Horii A.
      DNA Res.4:359-362(1997) [PubMed] [Europe PMC] [Abstract]
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      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4)
      tissue: Cerebellum.
      tissue: Uterus.
    4. 4.
      NIEHS SNPs program
      Submitted (2002-03) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS GLU-39; VAL-396; ALA-623 AND VAL-886
    5. 5.
      "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
      Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
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    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Placenta.
    7. 7.
      "GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells."
      Palombo F. , Gallinari P. , Iaccarino I. , Lettieri T. , Hughes M. , D'Arrigo A. , Truong O. , Hsuan J.J. , Jiricny J.
      Science268:1912-1914(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 69-1360;PARTIAL PROTEIN SEQUENCE
    8. 8.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-116
    9. 9.
      "Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells."
      Drummond J.T. , Li G.-M. , Longley M.J. , Modrich P.
      Science268:1909-1912(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION;PARTIAL PROTEIN SEQUENCE
    10. 10.
      "Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism."
      Blackwell L.J. , Martik D. , Bjornson K.P. , Bjornson E.S. , Modrich P.
      J. Biol. Chem.273:32055-32062(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    11. 11.
      "DNA-dependent activation of the hMutSalpha ATPase."
      Blackwell L.J. , Bjornson K.P. , Modrich P.
      J. Biol. Chem.273:32049-32054(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    12. 12.
      "hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha."
      Iaccarino I. , Marra G. , Palombo F. , Jiricny J.
      EMBO J.17:2677-2686(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;MUTAGENESIS OF LYS-1140
    13. 13.
      "Functional analysis of human MutSalpha and MutSbeta complexes in yeast."
      Clark A.B. , Cook M.E. , Tran H.T. , Gordenin D.A. , Resnick M.A. , Kunkel T.A.
      Nucleic Acids Res.27:736-742(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MISMATCH-BINDING
    14. 14.
      "hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA."
      Gradia S. , Subramanian D. , Wilson T. , Acharya S. , Makhov A. , Griffith J. , Fishel R.
      Mol. Cell3:255-261(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    15. 15.
      "The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch."
      Gradia S. , Acharya S. , Fishel R.
      J. Biol. Chem.275:3922-3930(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    17. 17.
      "hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation."
      Hernandez-Pigeon H. , Quillet-Mary A. , Louat T. , Schambourg A. , Humbert O. , Selves J. , Salles B. , Laurent G. , Lautier D.
      J. Mol. Biol.348:63-74(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION BY PRKCZ
    18. 18.
      "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."
      Wang Y. , Cortez D. , Yazdi P. , Neff N. , Elledge S.J. , Qin J.
      Genes Dev.14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION OF MSH6 AS MEMBER OF BASC
    19. 19.
      "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer."
      Miyaki M. , Konishi M. , Tanaka K. , Kikuchi-Yanoshita R. , Muraoka M. , Yasuno M. , Igari T. , Koike M. , Chiba M. , Mori T.
      Nat. Genet.17:271-272(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN HNPCC5
    20. 20.
      "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
      Cell127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-219; SER-227 AND SER-261;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    21. 21.
      "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A. , Villen J. , Gerber S.A. , Rush J. , Gygi S.P.
      Nat. Biotechnol.24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-41 AND SER-43;VARIANT [LARGE SCALE ANALYSIS] GLU-39;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    22. 22.
      "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation."
      Auclair J. , Leroux D. , Desseigne F. , Lasset C. , Saurin J.C. , Joly M.O. , Pinson S. , Xu X.L. , Montmain G. , Ruano E. , Navarro C. , Puisieux A. , Wang Q.
      Hum. Mutat.28:1084-1090(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MMRCS
    23. 23.
      "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
      Matsuoka S. , Ballif B.A. , Smogorzewska A. , McDonald E.R. III , Hurov K.E. , Luo J. , Bakalarski C.E. , Zhao Z. , Solimini N. , Lerenthal Y. , Shiloh Y. , Gygi S.P. , Elledge S.J.
      Science316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Embryonic kidney.
    24. 24.
      "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T. , Yi W. , Lu B. , Park S.K. , Xu T. , Lee J.-D. , Yates J.R. III
      J. Proteome Res.7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    25. 25.
      "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
      Mol. Cell31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-309;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    26. 26.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-79; SER-91; SER-137; SER-200; SER-227; SER-252; SER-254; SER-256 AND SER-261;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    27. 27.
      "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C. , Kumar C. , Gnad F. , Nielsen M.L. , Rehman M. , Walther T.C. , Olsen J.V. , Mann M.
      Science325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-70 AND LYS-504;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    28. 28.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-137; SER-227 AND SER-830;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    29. 29.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    30. 30.
      "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
      Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-137; SER-219; SER-227; SER-252; SER-261; THR-269; SER-274; SER-275; SER-279; SER-280 AND SER-309;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    31. 31.
      "The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha."
      Li F. , Mao G. , Tong D. , Huang J. , Gu L. , Yang W. , Li G.M.
      Cell153:590-600(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;MUTAGENESIS OF TYR-103 AND 105-TRP-TRP-106
    32. 32.
      "Structure of the human MutSalpha DNA lesion recognition complex."
      Warren J.J. , Pohlhaus T.J. , Changela A. , Iyer R.R. , Modrich P.L. , Beese L.S.
      Mol. Cell26:579-592(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS)
    33. 33.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS VAL-1213 AND ILE-1260
    34. 34.
      "Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations."
      Wu Y. , Berends M.J.W. , Mensink R.G.J. , Kempinga C. , Sijmons R.H. , van Der Zee A.G.J. , Hollema H. , Kleibeuker J.H. , Buys C.H.C.M. , Hofstra R.M.W.
      Am. J. Hum. Genet.65:1291-1298(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HNPCC5 ILE-144 AND CYS-850
    35. 35.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CRC ILE-285; ARG-566; GLY-803 AND THR-1087;VARIANTS GLU-39; ASP-220; VAL-396 AND LEU-800
    36. 36.
      "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."
      Wang Q. , Lasset C. , Desseigne F. , Saurin J.-C. , Maugard C. , Navarro C. , Ruano E. , Descos L. , Trillet-Lenoir V. , Bosset J.-F. , Puisieux A.
      Hum. Genet.105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPCC5 GLU-698
    37. 37.
      "Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer."
      Chan T.L. , Yuen S.T. , Chung L.P. , Ho J.W.C. , Kwan K.Y.M. , Chan A.S.Y. , Ho J.C.Y. , Leung S.Y. , Wyllie A.H.
      J. Natl. Cancer Inst.91:1221-1226(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CRC MET-1284
    38. 38.
      "Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?"
      Charames G.S. , Millar A.L. , Pal T. , Narod S. , Bapat B.
      Hum. Genet.107:623-629(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS COLORECTAL/ENDOMETRIAL CANCER VAL-20; ALA-878 AND HIS-901
    39. 39.
      "Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer."
      Plaschke J. , Kruppa C. , Tischler R. , Bocker T. , Pistorius S. , Dralle H. , Rueschoff J. , Saeger H.D. , Fishel R. , Schackert H.K.
      Int. J. Cancer85:606-613(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CRC SER-340;VARIANT GLU-39
    40. 40.
      "Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype."
      Ohmiya N. , Matsumoto S. , Yamamoto H. , Baranovskaya S. , Malkhosyan S.R. , Perucho M.
      Gene272:301-313(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CRC ALA-685; GLN-772; ALA-800; MET-854; ALA-878; VAL-1031 AND ARG-1158
    41. 41.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPCC5 ALA-878
    42. 42.
      "Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant."
      Berends M.J.W. , Wu Y. , Sijmons R.H. , Mensink R.G.J. , van der Sluis T. , Hordijk-Hos J.M. , de Vries E.G.E. , Hollema H. , Karrenbeld A. , Buys C.H.C.M. , van der Zee A.G.J. , Hofstra R.M.W. , Kleibeuker J.H.
      Am. J. Hum. Genet.70:26-37(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CRC ILE-144; ARG-522; MET-725; CYS-850; ALA-878; ASP-1021; MET-1100; ILE-1219 AND ASP-1248
    43. 43.
      "Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation."
      Plaschke J. , Krueger S. , Pistorius S. , Theissig F. , Saeger H.D. , Schackert H.K.
      Int. J. Cancer97:643-648(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CRC HIS-976
    44. 44.
      "Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene."
      Wagner A. , Barrows A. , Wijnen J.T. , van der Klift H. , Franken P.F. , Verkuijlen P. , Nakagawa H. , Geugien M. , Jaghmohan-Changur S. , Breukel C. , Meijers-Heijboer H. , Morreau H. , van Puijenbroek M. , Burn J. , Coronel S. , Kinarski Y. , Okimoto R. , Watson P. , more...
      Am. J. Hum. Genet.72:1088-1100(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPCC5 VAL-492
    45. 45.
      "Two mismatch repair gene mutations found in a colon cancer patient -which one is pathogenic?"
      Kariola R. , Otway R. , Loennqvist K.E. , Raevaara T.E. , Macrae F. , Vos Y.J. , Kohonen-Corish M. , Hofstra R.M.W. , Nystroem-Lahti M.
      Hum. Genet.112:105-109(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CRC HIS-1095 AND GLN-1354
    46. 46.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CRC ALA-54;VARIANTS GLU-39; ALA-509; MET-854 AND ALA-878
    47. 47.
      "MSH6 missense mutations are often associated with no or low cancer susceptibility."
      Kariola R. , Hampel H. , Frankel W.L. , Raevaara T.E. , de la Chapelle A. , Nystroem-Lahti M.
      Br. J. Cancer91:1287-1292(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LEU-128; LEU-623; THR-728 AND LYS-1193;CHARACTERIZATION OF VARIANTS LEU-128; LEU-623; THR-728 AND LYS-1193
    48. 48.
      "Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue."
      The German HNPCC consortium , Plaschke J. , Krueger S. , Dietmaier W. , Gebert J. , Sutter C. , Mangold E. , Pagenstecher C. , Holinski-Feder E. , Schulmann K. , Moeslein G. , Rueschoff J. , Engel C. , Evans G. , Schackert H.K.
      Hum. Mutat.23:285-285(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPCC5 TRP-772
    49. 49.
      "Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families."
      Shin Y.-K. , Heo S.-C. , Shin J.-H. , Hong S.-H. , Ku J.-L. , Yoo B.-C. , Kim I.-J. , Park J.-G.
      Hum. Mutat.24:351-351(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPCC5 VAL-1163
    50. 50.
      "Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden."
      Cederquist K. , Emanuelsson M. , Goeransson I. , Holinski-Feder E. , Mueller-Koch Y. , Golovleva I. , Groenberg H.
      Int. J. Cancer109:370-376(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT COLORECTAL/ENDOMETRIAL CANCER PRO-449
    51. 51.
      "Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium."
      Plaschke J. , Engel C. , Krueger S. , Holinski-Feder E. , Pagenstecher C. , Mangold E. , Moeslein G. , Schulmann K. , Gebert J. , von Knebel Doeberitz M. , Rueschoff J. , Loeffler M. , Schackert H.K.
      J. Clin. Oncol.22:4486-4494(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CRC ASN-99; ASP-619; VAL-787; ALA-878 AND CYS-1076
    52. 53.
      "Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer."
      Barnetson R.A. , Cartwright N. , van Vliet A. , Haq N. , Drew K. , Farrington S. , Williams N. , Warner J. , Campbell H. , Porteous M.E. , Dunlop M.G.
      Hum. Mutat.29:367-374(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS THR-13; LEU-65; ILE-144; HIS-468; CYS-503; LEU-580; ALA-878; LEU-1232 AND GLY-1321
    53. 54.
      "A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants."
      Drost M. , Zonneveld J.B. , van Hees S. , Rasmussen L.J. , Hofstra R.M. , de Wind N.
      Hum. Mutat.33:488-494(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT HNPCC5 VAL-20;CHARACTERIZATION OF VARIANTS CRC HIS-976 AND ASP-1021;CHARACTERIZATION OF VARIANTS SER-25; VAL-326; VAL-396; VAL-492; CYS-503; ARG-522; ASN-610; CYS-850; ALA-878; TYR-1026; SER-1087 AND MET-1225
    54. 55.
      "Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients."
      Kantelinen J. , Kansikas M. , Candelin S. , Hampel H. , Smith B. , Holm L. , Kariola R. , Nystrom M.
      Hum. Mutat.33:1294-1301(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS PRO-435; PRO-585; THR-677; ALA-878; HIS-1095 AND GLN-1354
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