MSH2 ELISA Kit for Human(Homo sapiens) | EIAab.comMSH2 ELISA Kit for Human(Homo sapiens)

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MSH2 (Gene name),

DNA mismatch repair protein Msh2 (Protein name ), MSH2_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

MSH2;

Protein name:

DNA mismatch repair protein Msh2(hMSH2);

Alternative:

MutS protein homolog 2;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta). Both heterodimer form 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. Interacts with SLX4/BTBD12; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases.

Function:

Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta 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. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis.

Subcellular Location:

Nucleus

Protein Attributes:

Sequence length:

934

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

934:

EENITIKLKQ | LKAEVIAKNN | SFVNEIISRI | KVTT

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

STRING:

9606.ENSP00000233146

SMR:

P43246

Pfam:

PF01624

UniGene:

Hs.597656

String:

P43246

MIM:

120435

KEGG:

hsa:4436

Uniprot:

P43246

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ELISA Kit for Human hMSH2

Cat.:

E8706m

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96T

ELISA Kit for Human hMSH2

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E8706r

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96T

ELISA Kit for Human hMSH2

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E8706b

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96T

ELISA Kit for Human hMSH2

Cat.:

E8706h

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Manual:

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96T

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CLIA Kit for Human hMSH2

Cat.:

U8706h

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96T

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CLIA Kit for Human hMSH2

Cat.:

U8706m

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96T

CLIA Kit for Human hMSH2

Cat.:

U8706r

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MSDS:

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96T

CLIA Kit for Human hMSH2

Cat.:

U8706b

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96T

Polyclonal Antibody for Human hMSH2

Cat.:

P8706Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human hMSH2

Cat.:

P8706Rb-h

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human hMSH2

Protein for Human hMSH2

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

Intra-Assay CV: ≤7.1%

Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

Inter-Assay CV: ≤8.7%

Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

Intra-Assay CV: ≤3.9%

Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

Inter-Assay CV: ≤7.7%

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery was determined by spiking various levels of MSH2 into serum and plasma .

Sample Type	Average(%)	Recovery Range(%)
Serum	101	90-106
Plasma	99	92-105

Recovery was determined by spiking various levels of ACE into serum and plasma .

Sample Type	Average(%)	Recovery Range(%)
Serum	99	91-103
Plasma	98	93-106

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

The linearity of the kit was assayed by testing samples spiked with appropriate concentration of MSH2 and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.

Sample	1：2	1:4	1:8	1:16
serum(n=5)	96-106%	94-109%	95-106%	92-110%
EDTA plasma(n=5)	90-108%	91-106%	92-107%	94-105%
heparin plasma(n=5)	93-106%	95-104%	93-105%	93-107%

The linearity of the kit was assayed by testing samples spiked with appropriate concentration of ACE and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.

Sample	1：2	1:4	1:8	1:16
serum(n=5)	92-105%	90-101%	95-105%	92-109%
EDTA plasma(n=5)	89-95%	93105%	89-94%	90-106%
heparin plasma(n=5)	93-104%	94-110%	101-111%	91-110%

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer."
Fishel R. , Lescoe M. , Rao M. , Copeland N.G. , Jenkins N.A. , Garber J. , Kane M.F. , Kolodner R.D.
Cell75:1027-1038(1993) [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] (ISOFORM 1)
2.

Fishel R. , Lescoe M. , Rao M. , Copeland N.G. , Jenkins N.A. , Garber J. , Kane M.F. , Kolodner R.D.
Cell77:167-167(1994) [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: ERRATUM
3.

"Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer."
Leach F.S. , Nicolaides N.C. , Papadopoulos N. , Liu B. , Jen J. , Parsons R. , Peltomaeki P. , Sistonen P. , Aaltonen L.A. , Nystroem-Lahti M. , Guan X.-Y. , Zhang J. , Meltzer P.S. , Yu J.-W. , Kao F.-T. , Chen D.J. , Cerosaletti K.M. , Fournier R.E.K. , more...
Cell75:1215-1225(1993) [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] (ISOFORM 1);VARIANTS HNPCC1 LEU-622 AND TYR-639
4.

"Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations."
Kolodner R.D. , Hall N.R. , Lipford J. , Kane M.F. , Rao M.R.S. , Morrison P. , Wirth L. , Finan P.J. , Burn J. , Chapman P. , Earabino C. , Merchant E. , Bishop D.T.
Genomics24:516-526(1994) [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 [GENOMIC DNA];INVOLVEMENT IN MRTES
5.

"Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis."
Wijnen J. , Vasen H. , Khan P.M. , Menko F.H. , van der Klift H. , van Leeuwen C. , van den Broek M. , van Leeuwen-Cornelisse I. , Nagengast F. , Meijers-Heijboer A. , Lindhout D. , Griffioen G. , Cats A. , Kleibeuker J. , Varesco L. , Bertario L. , Bisgaard M.-L. , Mohr J. , more...
Am. J. Hum. Genet.56:1060-1066(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] (ISOFORM 1);VARIANT HIS-96
6.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(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] (ISOFORM 2)
tissue: Uterus.
7.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Testis.
8.

"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]

[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 GENOMIC DNA]
9.

NIEHS SNPs program
Submitted (2004-04) 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 MET-8; CYS-43; SER-127; ASP-322 AND PHE-390
10.

"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] (ISOFORM 1)
tissue: Muscle.
11.

"A novel germline mutation at exon 7 of the hMSH2 gene (417 del G) in a large HNPCC Brazilian kindred."
Corvello C.M. , Bevilacqua R.A.U. , Rossi B.M. , Simpson A.J.G.
Submitted (1998-05) 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] OF 375-425
tissue: Blood.
12.

"Purified human MSH2 protein binds to DNA containing mismatched nucleotides."
Fishel R. , Ewel A. , Lescoe M.K.
Cancer Res.54:5539-5542(1994) [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: DNA-BINDING
13.

"A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides."
Whitehouse A. , Taylor G.R. , Deeble J. , Phillips S.E. , Meredith D.M. , Markham A.F.
Biochem. Biophys. Res. Commun.225:289-295(1996) [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: DNA-BINDING
14.

"hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6."
Acharya S. , Wilson T. , Gradia S. , Kane M.F. , Guerrette S. , Marsischky G.T. , Kolodner R.D. , Fishel R.
Proc. Natl. Acad. Sci. U.S.A.93:13629-13634(1996) [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: INTERACTION WITH MSH3 AND MSH6
15.

"Human exonuclease I interacts with the mismatch repair protein hMSH2."
Schmutte C. , Marinescu R.C. , Sadoff M.M. , Guerrette S. , Overhauser J. , Fishel R.
Cancer Res.58:4537-4542(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: INTERACTION WITH EXO1
16.

"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
17.

"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
18.

"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-675
19.

"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;CHARACTERIZATION OF VARIANT HNPCC1 PRO-524
20.

"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
21.

"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 MSH2 AS MEMBER OF BASC
22.

"Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis."
Rasmussen L.J. , Rasmussen M. , Lee B.-I. , Rasmussen A.K. , Wilson D.M. III , Nielsen F.C. , Bisgaard H.C.
Mutat. Res.460:41-52(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: INTERACTION WITH EXO1;TISSUE SPECIFICITY
23.

"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
24.

"The interaction of DNA mismatch repair proteins with human exonuclease I."
Schmutte C. , Sadoff M.M. , Shim K.-S. , Acharya S. , Fishel R.
J. Biol. Chem.276:33011-33018(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: INTERACTION WITH EXO1
25.

"HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes."
Jaeger A.C. , Rasmussen M. , Bisgaard H.C. , Singh K.K. , Nielsen F.C. , Rasmussen L.J.
Oncogene20:3590-3595(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: INTERACTION WITH EXO1
26.

"Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome."
Sun X. , Zheng L. , Shen B.
Cancer Res.62:6026-6030(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: INTERACTION WITH EXO1
27.

"MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation."
Wang Y. , Qin J.
Proc. Natl. Acad. Sci. U.S.A.100:15387-15392(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: INTERACTION WITH ATR;IDENTIFICATION BY MASS SPECTROMETRY
28.

"Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA."
Nielsen F.C. , Jaeger A.C. , Luetzen A. , Bundgaard J.R. , Rasmussen L.J.
Oncogene23:1457-1468(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: INTERACTION WITH EXO1
29.

"The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase."
Yang Q. , Zhang R. , Wang X.W. , Linke S.P. , Sengupta S. , Hickson I.D. , Pedrazzi G. , Perrera C. , Stagljar I. , Littman S.J. , Modrich P. , Harris C.C.
Oncogene23:3749-3756(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: FUNCTION
30.

"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
31.

"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.
32.

"The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells."
Seifert M. , Scherer S.J. , Edelmann W. , Bohm M. , Meineke V. , Lobrich M. , Tilgen W. , Reichrath J.
J. Invest. Dermatol.128:203-213(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: FUNCTION
33.

"Colon cancer and DNA repair: have mismatches met their match?"
Jiricny J.
Trends Genet.10:164-168(1994) [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: REVIEW
34.

"Molecular basis of HNPCC: mutations of MMR genes."
Papadopoulos N. , Lindblom A.
Hum. Mutat.10:89-99(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: REVIEW ON VARIANTS
35.

"The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer."
Seifert M. , Reichrath J.
J. Mol. Histol.37:301-307(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: REVIEW
36.

"The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS."
Okazaki N. , Ikeda S. , Ohara R. , Shimada K. , Yanagawa T. , Nagase T. , Ohara O. , Koga H.
J. Mol. Biol.382:257-265(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: INTERACTION WITH SMARCAD1
37.

"Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair."
Svendsen J.M. , Smogorzewska A. , Sowa M.E. , O'Connell B.C. , Gygi S.P. , Elledge S.J. , Harper J.W.
Cell138:63-77(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: INTERACTION WITH SLX4
38.

"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-555;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
39.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
40.

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P. , Lasa M. , Polevoda B. , Gazquez C. , Elosegui-Artola A. , Kim D.S. , De Juan-Pardo E. , Demeyer K. , Hole K. , Larrea E. , Timmerman E. , Prieto J. , Arnesen T. , Sherman F. , Gevaert K. , Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS]
41.

"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)
42.

"Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development."
Mary J.-L. , Bishop T. , Kolodner R.D. , Lipford J.R. , Kane M.F. , Weber W. , Torhorst J. , Mueller H. , Spycher M. , Scott R.J.
Hum. Mol. Genet.3:2067-2069(1994) [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 HNPCC1 ASN-596 DEL
43.

"Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer."
Konishi M. , Kikuchi-Yanoshita R. , Tanaka K. , Muraoka M. , Onda A. , Okumura Y. , Kishi N. , Iwama T. , Mori T. , Koike M. , Ushio K. , Chiba M. , Nomizu S. , Konishi F. , Utsunomiya J. , Miyaki M.
Gastroenterology111:307-317(1996) [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 PHE-390 AND LYS-419
44.

"CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations."
Maliaka Y.K. , Chudina A.P. , Belev N.F. , Alday P. , Bochkov N.P. , Buerstedde J.-M.
Hum. Genet.97:251-255(1996) [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 ASP-322
45.

"Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer."
Moslein G. , Tester D.J. , Lindor N.M. , Honchel R. , Cunningham J.M. , French A.J. , Halling K.C. , Schwab M. , Goretzki P. , Thibodeau S.N.
Hum. Mol. Genet.5:1245-1252(1996) [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 HNPCC1 ASN-596 DEL;VARIANT HIS-167
46.

"Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer."
Han H.-J. , Yuan Y. , Ku J.-L. , Oh J.-H. , Won Y.-J. , Kang K.J. , Kim K.Y. , Kim S. , Kim C.Y. , Kim J.-P. , Oh N.-G. , Lee K.H. , Choe K.J. , Nakamura Y. , Park J.-G.
J. Natl. Cancer Inst.88:1317-1319(1996) [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 TYR-506
47.

"Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer."
Bubb V.J. , Curtis L.J. , Cunningham C. , Dunlop M.G. , Carothers A.D. , Morris R.G. , White S. , Bird C.C. , Wyllie A.H.
Oncogene12:2641-2649(1996) [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 HNPCC1 GLN-46
48.

"Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations."
Wijnen J. , Khan P.M. , Vasen H. , van der Klift H. , Mulder A. , van Leeuwen-Cornelisse I. , Bakker B. , Losekoot M. , Moeller P. , Fodde R.
Am. J. Hum. Genet.61:329-335(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: VARIANTS HNPCC1 THR-305; ASN-596 DEL AND THR-834
49.

"Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers."
Akiyama Y. , Tsubouchi N. , Yuasa Y.
Biochem. Biophys. Res. Commun.236:248-252(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: VARIANT HNPCC1 CYS-323
50.

"Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds."
Nakahara M. , Yokozaki H. , Yasui W. , Dohi K. , Tahara E.
Cancer Epidemiol. Biomarkers Prev.6:1057-1064(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: VARIANTS HNPCC1 THR-110; ARG-639; LYS-647; HIS-656; THR-679; VAL-729 AND ILE-732
51.

"Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer."
Viel A. , Genuardi M. , Capozzi E. , Leonardi F. , Bellacosa A. , Paravatou-Petsotas M. , Pomponi M.G. , Fornasarig M. , Percesepe A. , Roncucci L. , Tamassia M.G. , Benatti P. , Ponz de Leon M. , Valenti A. , Covino M. , Anti M. , Foletto M. , Boiocchi M. , more...
Genes Chromosomes Cancer18:8-18(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: VARIANT SER-596
52.

"MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis."
Wu Y. , Nystroem-Lahti M. , Osinga J. , Looman M.W.G. , Peltomaeki P. , Aaltonen L.A. , de la Chapelle A. , Hofstra R.M.W. , Buys C.H.C.M.
Genes Chromosomes Cancer18:269-278(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: VARIANT ASP-322
53.

"Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria."
Beck N.E. , Tomlinson I.P.M. , Homfray T. , Frayling I. , Hodgson S.V. , Harocopos C.J. , Bodmer W.F.
Hum. Genet.99:219-224(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: VARIANT HNPCC1 VAL-562
54.

"Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes."
Wehner M. , Buschhausen L. , Lamberti C. , Kruse R. , Caspari R. , Propping P. , Friedl W.
Hum. Mutat.10:241-244(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: VARIANT HNPCC1 PHE-697;VARIANT ASP-322
55.

"Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls."
Farrington S.M. , Lin-Goerke J. , Ling J. , Wang Y. , Burczak J.D. , Robbins D.J. , Dunlop M.G.
Am. J. Hum. Genet.63:749-759(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: VARIANT HNPCC1 265-VAL--GLN-314 DEL;VARIANTS GLY-641 AND VAL-770
56.

"Microsatellite instability and mutation of DNA mismatch repair genes in gliomas."
Leung S.Y. , Chan T.L. , Chung L.P. , Chan A.S.Y. , Fan Y.W. , Hung K.N. , Kwong W.K. , Ho J.W.C. , Yuen S.T.
Am. J. Pathol.153:1181-1188(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: VARIANT GLIOMA ARG-199
57.

"Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer."
Yuan Y. , Han H.-J. , Zheng S. , Park J.-G.
Dis. Colon Rectum41:434-440(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: VARIANT CRC TYR-506;VARIANT HNPCC1 ILE-688
58.

"MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility."
Liu T. , Stathopoulos P. , Lindblom P. , Rubio C. , Wasteson Arver B. , Iselius L. , Holmberg E. , Groenberg H. , Lindblom A.
Eur. J. Cancer34:1981-1981(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: VARIANT ASP-322
59.

"Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer 'HNPCC' and in a patient with six primary cancers."
Okamura S. , Koyama K. , Miyoshi Y. , Monden M. , Takami M.
J. Hum. Genet.43:143-145(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: VARIANT PHE-390
60.

"Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer."
Heinimann K. , Scott R.J. , Buerstedde J.-M. , Weber W. , Siebold K. , Attenhofer M. , Mueller H. , Dobbie Z.
Cancer85:2512-2518(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 HNPCC1 SER-336 AND ASN-596 DEL
61.

"Mutator phenotypes of common polymorphisms and missense mutations in MSH2."
Drotschmann K. , Clark A.B. , Kunkel T.A.
Curr. Biol.9:907-910(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: CHARACTERIZATION OF VARIANTS ASP-322; PHE-390; LYS-419; TYR-506; PRO-524; LEU-622 AND PHE-697
62.

"Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2."
Genuardi M. , Carrara S. , Anti M. , Ponz de Leon M. , Viel A.
Eur. J. Hum. Genet.7:778-782(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 HNPCC1 GLN-246; ASP-322; SER-596 AND THR-834
63.

"Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer."
Weber T.K. , Chin H.-M. , Rodriguez-Bigas M. , Keitz B. , Gilligan R. , O'Malley L. , Urf E. , Diba N. , Pazik J. , Petrelli N.J.
JAMA281:2316-2320(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 HNPCC1 PHE-390
64.

"A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening."
Yuan Z.Q. , Wong N. , Foulkes W.D. , Alpert L. , Manganaro F. , Andreutti-Zaugg C. , Iggo R. , Anthony K. , Hsieh E. , Redston M. , Pinsky L. , Trifiro M. , Gordon P.H. , Lasko D.
J. Med. Genet.36:790-793(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 HNPCC1 PRO-636
65.

"Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds."
Nomura S. , Sugano K. , Kashiwabara H. , Taniguchi T. , Fukayama N. , Fujita S. , Akasu T. , Moriya Y. , Ohhigashi S. , Kakizoe T. , Sekiya T.
Biochem. Biophys. Res. Commun.271:120-129(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 HNPCC1 ILE-688 AND GLU-845;VARIANT MET-8
66.

"Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach."
Fidalgo P. , Almeida M.R. , West S. , Gaspar C. , Maia L. , Wijnen J. , Albuquerque C. , Curtis A. , Cravo M. , Fodde R. , Leitao C.N. , Burn J.
Eur. J. Hum. Genet.8:49-53(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 ASP-322
67.

"Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families."
Isidro G. , Veiga I. , Matos P. , Almeida S. , Bizarro S. , Marshall B. , Baptista M. , Leite J. , Regateiro F. , Soares J. , Castedo S. , Boavida M.G.
Hum. Mutat.15:116-116(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 HNPCC1 ARG-692 AND ARG-697
68.

"Population-based molecular detection of hereditary nonpolyposis colorectal cancer."
Salovaara R. , Loukola A. , Kristo P. , Kaeaeriaeinen H. , Ahtola H. , Eskelinen M. , Haerkoenen N. , Julkunen R. , Kangas E. , Ojala S. , Tulikoura J. , Valkamo E. , Jaervinen H. , Mecklin J.-P. , Aaltonen L.A. , de la Chapelle A.
J. Clin. Oncol.18:2193-2200(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 HNPCC1 ASN-603;VARIANT ASP-322
69.

Salovaara R. , Loukola A. , Kristo P. , Kaeaeriaeinen H. , Ahtola H. , Eskelinen M. , Haerkoenen N. , Julkunen R. , Kangas E. , Ojala S. , Tulikoura J. , Valkamo E. , Jaervinen H. , Mecklin J.-P. , Aaltonen L.A. , de la Chapelle A.
J. Clin. Oncol.18:3456-3456(2000)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
70.

"hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer."
Kim J.C. , Kim H.C. , Roh S.A. , Koo K.H. , Lee D.H. , Yu C.S. , Lee J.H. , Kim T.W. , Lee H.I. , Beck N.E. , Bodmer W.F.
Cancer Detect. Prev.25:503-510(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 GASTRIC CANCER PHE-17; GLU-824; ALA-868; GLY-870 AND GLY-873;VARIANTS HNPCC1 CYS-98; TYR-323; ILE-335; ARG-629 AND VAL-714
71.

"Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?"
Mueller-Koch Y. , Kopp R. , Lohse P. , Baretton G. , Stoetzer A. , Aust D. , Daum J. , Kerker B. , Gross M. , Dietmeier W. , Holinski-Feder E.
Eur. J. Med. Res.6:473-482(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 HNPCC1 ASP-161; VAL-216 AND ARG-554
72.

"Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae."
Ellison A.R. , Lofing J. , Bitter G.A.
Hum. Mol. Genet.10:1889-1900(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: CHARACTERIZATION OF VARIANTS ASP-322; LEU-622 AND TYR-639
73.

"Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach."
Gille J.J.P. , Hogervorst F.B.L. , Pals G. , Wijnen J.T. , van Schooten R.J. , Dommering C.J. , Meijer G.A. , Craanen M.E. , Nederlof P.M. , de Jong D. , McElgunn C.J. , Schouten J.P. , Menko F.H.
Br. J. Cancer87:892-897(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 HNPCC1 VAL-813
74.

"Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma."
Furukawa T. , Konishi F. , Shitoh K. , Kojima M. , Nagai H. , Tsukamoto T.
Cancer94:911-920(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 HNPCC1 VAL-600 AND PHE-723
75.

"HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions."
Heinen C.D. , Wilson T. , Mazurek A. , Berardini M. , Butz C. , Fishel R.
Cancer Cell1:469-478(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 HNPCC1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905;CHARACTERIZATION OF VARIANTS HNPCC1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905
76.

"A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots."
Whiteside D. , McLeod R. , Graham G. , Steckley J.L. , Booth K. , Somerville M.J. , Andrew S.E.
Cancer Res.62:359-362(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: INVOLVEMENT IN MULTIPLE CAFE-AU-LAIT SPOTS WITH LEUKEMIA
77.

"Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing."
Cravo M. , Afonso A.J. , Lage P. , Albuquerque C. , Maia L. , Lacerda C. , Fidalgo P. , Chaves P. , Cruz C. , Nobre-Leitao C.
Gut50:405-412(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 ASP-322
78.

"Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation."
Bisgaard M.L. , Jaeger A.C. , Myrhoej T. , Bernstein I. , Nielsen F.C.
Hum. Mutat.20:20-27(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 HNPCC1 MET-44; VAL-45; ASN-596 DEL; GLY-886 AND GLU-923
79.

"Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer."
Ward R. , Meldrum C. , Williams R. , Mokany E. , Scott R. , Turner J. , Hawkins N. , Burgess B. , Groombridge C. , Spigelman A.
J. Cancer Res. Clin. Oncol.128:403-411(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 HNPCC1 ILE-102; ASP-163 AND ALA-564;VARIANT ASP-322
80.

"Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression."
Scartozzi M. , Bianchi F. , Rosati S. , Galizia E. , Antolini A. , Loretelli C. , Piga A. , Bearzi I. , Cellerino R. , Porfiri E.
J. Clin. Oncol.20:1203-1208(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 HNPCC1 HIS-167 AND SER-359
81.

"Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States."
Kurzawski G. , Suchy J. , Kladny J. , Safranow K. , Jakubowska A. , Elsakov P. , Kucinskas V. , Gardovski J. , Irmejs A. , Sibul H. , Huzarski T. , Byrski T. , Debniak T. , Cybulski C. , Gronwald J. , Oszurek O. , Clark J. , Gozdz S. , more...
J. Med. Genet.39:E65-E65(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 HNPCC1 LEU-92 DEL AND ALA-853;VARIANT ASP-322
82.

"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: VARIANTS HNPCC1 PRO-552; SER-583 AND PRO-636
83.

"Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases."
Colombino M. , Cossu A. , Arba A. , Manca A. , Curci A. , Avallone A. , Comella G. , Botti G. , Scintu F. , Amoruso M. , D'Abbicco D. , d'Agnessa M.R. , Spanu A. , Tanda F. , Palmieri G.
Ann. Oncol.14:1530-1536(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 COLORECTAL CANCER ILE-13 AND ILE-342;VARIANT ASP-322
84.

"Genetic analysis of familial colorectal cancer in Israeli Arabs."
Chen-Shtoyerman R. , Theodor L. , Harmati E. , Friedman E. , Dacka S. , Kopelman Y. , Sternberg A. , Zarivach R. , Bar-Meir S. , Fireman Z.
Hum. Mutat.21:446-447(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 HNPCC1 SER-127
85.

"Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia."
Bartosova Z. , Fridrichova I. , Bujalkova M. , Wolf B. , Ilencikova D. , Krizan P. , Hlavcak P. , Palaj J. , Lukac L. , Lukacova M. , Boeoer A. , Haider R. , Jiricny J. , Nystroem-Lahti M. , Marra G.
Hum. Mutat.21:449-449(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 HNPCC1 PRO-175
86.

"Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA."
Taylor C.F. , Charlton R.S. , Burn J. , Sheridan E. , Taylor G.R.
Hum. Mutat.22:428-433(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 HNPCC1 GLY-163 AND GLY-660
87.

"Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene."
Yamada K. , Zhong X. , Kanazawa S. , Koike J. , Tsujita K. , Hemmi H.
Oncol. Rep.10:859-866(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 MET-8; SER-40; VAL-169; ARG-203; PHE-390; LYS-419; CYS-619 AND ARG-629
88.

"Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer."
Sun M.H. , Cai Q. , Fu G. , Ren S. , Mo S. , Xu Y. , Ding C. , Zhang T. , Zhu X. , Xu X. , Min D. , Cai S. , Luo D. , Shi Y. , Shi D.
Hum. Genet.114:409-409(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 HNPCC1 THR-931
89.

"RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1."
Sharp A. , Pichert G. , Lucassen A. , Eccles D.
Hum. Mutat.24:272-272(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 HNPCC1 TYR-671
90.

"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: VARIANTS HNPCC1 LEU-440 DEL; TYR-506; ARG-629 AND ILE-688
91.

"Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR."
Yuan Y. , Huang Y.-Q. , Cai S.-R. , Song Y.-M. , Zheng S. , Zhang S.-Z.
Jpn. J. Clin. Oncol.34:660-666(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 HNPCC1 ARG-839;VARIANT ARG-629
92.

"BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing."
Domingo E. , Laiho P. , Ollikainen M. , Pinto M. , Wang L. , French A.J. , Westra J. , Frebourg T. , Espin E. , Armengol M. , Hamelin R. , Yamamoto H. , Hofstra R.M.W. , Seruca R. , Lindblom A. , Peltomaeki P. , Thibodeau S.N. , Aaltonen L.A. , more...
J. Med. Genet.41:664-668(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 HNPCC1 LEU-349 AND ASN-596 DEL
93.

"A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy."
Baudi F. , Fersini G. , Lavecchia A. , Terracciano R. , Leone F. , Quaresima B. , Faniello M.C. , De Paola L. , Doldo P. , Cuda G. , Costanzo F. , Venuta S.
Cancer Lett.223:285-291(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: VARIANT HNPCC1 PHE-93
94.

"Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia."
Lee S.-C. , Guo J.-Y. , Lim R. , Soo R. , Koay E. , Salto-Tellez M. , Leong A. , Goh B.-C.
Clin. Genet.68:137-145(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: VARIANTS HNPCC1 VAL-169; PHE-390; ALA-564 AND ARG-629;VARIANT CRC LYS-419
95.

"Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes."
Wehner M. , Mangold E. , Sengteller M. , Friedrichs N. , Aretz S. , Friedl W. , Propping P. , Pagenstecher C.
Eur. J. Hum. Genet.13:983-986(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: VARIANT HNPCC1 TYR-283
96.

"Gene symbol: MSH2. Disease: hereditary nonpolyposis colorectal cancer."
Kohonen-Corish M.R.J. , Otway R. , Tetlow N. , Hornby J. , Doe W.F.
Hum. Genet.116:539-539(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: VARIANT HNPCC1 ARG-162
97.

"Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)."
Kurzawski G. , Suchy J. , Lener M. , Klujszo-Grabowska E. , Kladny J. , Safranow K. , Jakubowska K. , Jakubowska A. , Huzarski T. , Byrski T. , Debniak T. , Cybulski C. , Gronwald J. , Oszurek O. , Oszutowska D. , Kowalska E. , Gozdz S. , Niepsuj S. , more...
Clin. Genet.69:40-47(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: VARIANTS HNPCC1 THR-2; LEU-92 DEL; MET-145; PHE-390 AND ALA-853;VARIANT ASP-322
98.

"Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein."
Ollila S. , Sarantaus L. , Kariola R. , Chan P. , Hampel H. , Holinski-Feder E. , Macrae F. , Kohonen-Corish M. , Gerdes A.-M. , Peltomaeki P. , Mangold E. , de la Chapelle A. , Greenblatt M. , Nystroem M.
Gastroenterology131:1408-1417(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: VARIANTS HNPCC1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749;VARIANTS VAL-272; THR-834 AND GLU-923;CHARACTERIZATION OF VARIANTS HNPCC1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749;CHARACTERIZATION OF VARIANTS VAL-272; THR-834 AND GLU-923
99.

"Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer."
Leonardis D.
Hum. Genet.119:675-675(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: VARIANT HNPCC1 ALA-162
100.

"A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting."
Ramsoekh D. , Wagner A. , van Leerdam M.E. , Dinjens W.N. , Steyerberg E.W. , Halley D.J. , Kuipers E.J. , Dooijes D.
Gut57:1539-1544(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: VARIANT HNPCC1 ARG-674
101.

"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 GLN-46; LYS-106; ASP-322; SER-596; LEU-670; ILE-779; SER-807; HIS-835 AND ARG-911
102.

"Mechanisms of pathogenicity in human MSH2 missense mutants."
Ollila S. , Dermadi Bebek D. , Jiricny J. , Nystroem M.
Hum. Mutat.29:1355-1363(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: MUTAGENESIS OF GLY-674;CHARACTERIZATION OF VARIANTS HNPCC1 PRO-33; SER-127; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834 AND GLU-923;CHARACTERIZATION OF VARIANTS VAL-272 AND ASP-322
103.

"A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects."
Tournier I. , Vezain M. , Martins A. , Charbonnier F. , Baert-Desurmont S. , Olschwang S. , Wang Q. , Buisine M.P. , Soret J. , Tazi J. , Frebourg T. , Tosi M.
Hum. Mutat.29:1412-1424(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 HNPCC1 LEU-92 DEL AND ARG-199;VARIANTS VAL-272; ASP-331; GLU-470; ASN-596 DEL; ASN-610; GLY-638; GLU-645; TYR-671; LEU-696; ARG-697; PHE-723; TYR-748 AND GLN-839;CHARACTERIZATION OF VARIANTS HNPCC1 LEU-92 DEL AND ARG-199;CHARACTERIZATION OF VARIANTS VAL-272; ASP-331; GLU-470; ASN-596 DEL; ASN-610; GLY-638; GLU-645; TYR-671; LEU-696; ARG-697; PHE-723; TYR-748 AND GLN-839
104.

"MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system."
Belvederesi L. , Bianchi F. , Galizia E. , Loretelli C. , Bracci R. , Catalani R. , Amati M. , Cellerino R.
Hum. Mutat.29:E296-E309(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: CHARACTERIZATION OF VARIANTS HNPCC1 ARG-162; HIS-167 AND SER-359
105.

"Functional analysis of HNPCC-related missense mutations in MSH2."
Lutzen A. , de Wind N. , Georgijevic D. , Nielsen F.C. , Rasmussen L.J.
Mutat. Res.645:44-55(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: CHARACTERIZATION OF VARIANTS HNPCC1 HIS-167; THR-305: LEU-622; ARG-639; ARG-674; PHE-697 AND THR-834
106.

"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 VARIANTS HNPCC1 MET-44; VAL-45; HIS-167; THR-305; PHE-390; ASN-596 DEL; ARG-639; ARG-674; PHE-697; PHE-723 AND GLY-886;CHARACTERIZATION OF VARIANTS ASP-165; HIS-177; VAL-272; LEU-385; LEU-519; ALA-675; GLU-759; VAL-805; GLY-843 AND LEU-860
107.

"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 SER-127; MET-145; GLN-205; ASP-322; PRO-328; ILE-367; GLU-487 AND ILE-909
108.

"Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients."
Zahary M.N. , Kaur G. , Abu Hassan M.R. , Singh H. , Naik V.R. , Ankathil R.
World J. Gastroenterol.18:814-820(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: VARIANT HNPCC1 ARG-669

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