DNMT1 ELISA Kit for Human(Homo sapiens) | EIAab.comDNMT1 ELISA Kit for Human(Homo sapiens)

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DNMT1 (Gene name),

DNA (cytosine-5)-methyltransferase 1 (Protein name ), DNMT1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

DNMT1(AIM;CXXC9;DNMT);

Protein name:

DNA (cytosine-5)-methyltransferase 1(Dnmt1);

Alternative:

DNA methyltransferase HsaI(DNA MTase HsaI;M.HsaI);CXXC-type zinc finger protein 9;MCMT;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer. Interacts with HDAC1 and with PCNA. Forms a complex with DMAP1 and HDAC2, with direct interaction. Forms also a stable complex with E2F1, BB1 and HDAC1. Binds MBD2 and MBD3. Component of complexes containing SUV39H1. Interacts with DNMT3A and DNMT3B. Interacts with the PRC2/EED-EZH2 complex. Interacts with UBC9 and BAZ2A/TIP5.

Function:

Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9.

Subcellular Location:

Nucleus

Protein Attributes:

Sequence length:

1616

Sequence:

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1600:

1616:

RESASAKIKE | EEAAKD

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

MIM:

126375

UniGene:

Hs.202672

Pfam:

PF01426

STRING:

9606.ENSP00000352516

SMR:

P26358

String:

P26358

KEGG:

hsa:1786

Uniprot:

P26358

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ELISA Kit for Human Dnmt1

Cat.:

E2102h

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96T

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ELISA Kit for Human Dnmt1

Cat.:

E2102c

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96T

ELISA Kit for Human Dnmt1

Cat.:

E2102m

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96T

ELISA Kit for Human Dnmt1

Cat.:

E2102b

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96T

ELISA Kit for Human Dnmt1

Cat.:

E2102r

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96T

CLIA Kit for Human Dnmt1

Cat.:

U2102m

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96T

CLIA Kit for Human Dnmt1

Cat.:

U2102h

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Looking for manual.

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96T

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CLIA Kit for Human Dnmt1

Cat.:

U2102c

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96T

CLIA Kit for Human Dnmt1

Cat.:

U2102r

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96T

CLIA Kit for Human Dnmt1

Cat.:

U2102b

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96T

Polyclonal Antibody for Human Dnmt1

Cat.:

P2102Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Dnmt1

Cat.:

P2102Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human Dnmt1

Cat.:

P2102Rb-m

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Polyclonal Antibody for Human Dnmt1

Monoclonal Antibody for Human Dnmt1

Protein for Human Dnmt1

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.

Recovery

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Linearity

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References

1.

"Isolation and characterization of the cDNA encoding human DNA methyltransferase."
Yen R.-W.C. , Vertino P.M. , Nelkin B.D. , Yu J.J. , Deiry W.E. , Cumaraswamy A. , Lennon G.G. , Trask B.J. , Celano P. , Baylin S.B.
Nucleic Acids Res.20:2287-2291(1992) [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.

"New 5' regions of the murine and human genes for DNA (cytosine-5)-methyltransferase."
Yoder J.A. , Yen R.-W.C. , Vertino P.M. , Bestor T.H. , Baylin S.B.
J. Biol. Chem.271:31092-31097(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: SEQUENCE REVISION TO N-TERMINUS
3.

"Human DNA methyltransferase (DNMT1) is alternatively spliced."
Li L.C. , Au H. , Chui R. , Dahiya R.
Submitted (1999-08) 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 [MRNA] (ISOFORM 3)
tissue: Prostatic carcinoma.
4.

"The DNA sequence and biology of human chromosome 19."
Grimwood J. , Gordon L.A. , Olsen A.S. , Terry A. , Schmutz J. , Lamerdin J.E. , Hellsten U. , Goodstein D. , Couronne O. , Tran-Gyamfi M. , Aerts A. , Altherr M. , Ashworth L. , Bajorek E. , Black S. , Branscomb E. , Caenepeel S. , Carrano A.V. , more...
Nature428:529-535(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 GENOMIC DNA]
5.

"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 2)
6.

"Two major forms of DNA (cytosine-5) methyltransferase in human somatic tissues."
Hsu D.-W. , Lin M.-J. , Lee T.-L. , Wen S.-C. , Chen X. , Shen C.-K.J.
Proc. Natl. Acad. Sci. U.S.A.96:9751-9756(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: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2)
7.

"Characterization of the human DNA methyltransferase splice variant Dnmt1b."
Bonfils C. , Beaulieu N. , Chan E. , Cotton-Montpetit J. , MacLeod A.R.
J. Biol. Chem.275:10754-10760(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: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2)
8.

"Human DNA-(cytosine-5) methyltransferase-PCNA complex as a target for p21WAF1."
Chuang L.S.-H. , Ian H.-I. , Koh T.-W. , Ng H.-H. , Xu G. , Li B.F.L.
Science277:1996-2000(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: INTERACTION WITH PCNA;MUTAGENESIS
9.

"MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase."
Tatematsu K. , Yamazaki T. , Ishikawa F.
Genes Cells5:677-688(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 MBD2 AND MBD3
10.

"DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci."
Rountree M.R. , Bachman K.E. , Baylin S.B.
Nat. Genet.25:269-277(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 HDAC2 AND DMAP1
11.

"DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters."
Robertson K.D. , Ait-Si-Ali S. , Yokochi T. , Wade P.A. , Jones P.L. , Wolffe A.P.
Nat. Genet.25:338-342(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 RB1; E2F1 AND HDAC1
12.

"The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors."
Robertson K.D. , Uzvolgyi E. , Liang G. , Talmadge C. , Sumegi J. , Gonzales F.A. , Jones P.A.
Nucleic Acids Res.27:2291-2298(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: TISSUE SPECIFICITY
13.

"Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases."
Kim G.-D. , Ni J. , Kelesoglu N. , Roberts R.J. , Pradhan S.
EMBO J.21:4183-4195(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 DNMT3A AND DNMT3B;SUBCELLULAR LOCATION
14.

"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-127 AND SER-714;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
15.

"The Polycomb group protein EZH2 directly controls DNA methylation."
Vire E. , Brenner C. , Deplus R. , Blanchon L. , Fraga M. , Didelot C. , Morey L. , Van Eynde A. , Bernard D. , Vanderwinden J.-M. , Bollen M. , Esteller M. , Di Croce L. , de Launoit Y. , Fuks F.
Nature439:871-874(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: FUNCTION;INTERACTION WITH EED AND EZH2
16.

Vire E. , Brenner C. , Deplus R. , Blanchon L. , Fraga M. , Didelot C. , Morey L. , Van Eynde A. , Bernard D. , Vanderwinden J.-M. , Bollen M. , Esteller M. , Di Croce L. , de Launoit Y. , Fuks F.
Nature446:824-824(2006)

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

"Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer."
Schlesinger Y. , Straussman R. , Keshet I. , Farkash S. , Hecht M. , Zimmerman J. , Eden E. , Yakhini Z. , Ben-Shushan E. , Reubinoff B.E. , Bergman Y. , Simon I. , Cedar H.
Nat. Genet.39:232-236(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: DE NOVO DNA METHYLATION OF TARGET GENES
18.

"CXXC domain of human DNMT1 is essential for enzymatic activity."
Pradhan M. , Esteve P.-O. , Chin H.G. , Samaranayke M. , Kim G.-D. , Pradhan S.
Biochemistry47:10000-10009(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;MUTAGENESIS OF CYS-653; CYS-656; CYS-659; CYS-664; CYS-667 AND CYS-670
19.

"DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation."
Sun L. , Huang L. , Nguyen P. , Bisht K.S. , Bar-Sela G. , Ho A.S. , Bradbury C.M. , Yu W. , Cui H. , Lee S. , Trepel J.B. , Feinberg A.P. , Gius D.
Cancer Res.68:2726-2735(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
20.

"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-732;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
21.

"Protein lysine methyltransferase G9a acts on non-histone targets."
Rathert P. , Dhayalan A. , Murakami M. , Zhang X. , Tamas R. , Jurkowska R. , Komatsu Y. , Shinkai Y. , Cheng X. , Jeltsch A.
Nat. Chem. Biol.4:344-346(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: METHYLATION AT LYS-70;IDENTIFICATION BY MASS SPECTROMETRY
22.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(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-127; SER-143; SER-152; SER-154 AND SER-394;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
23.

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
24.

"SUMOylation enhances DNA methyltransferase 1 activity."
Lee B. , Muller M.T.
Biochem. J.421:449-461(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: SUMOYLATION;INTERACTION WITH UBC9;MUTAGENESIS OF CYS-1226
25.

"Dimerization of DNA methyltransferase 1 is mediated by its regulatory domain."
Fellinger K. , Rothbauer U. , Felle M. , Laengst G. , Leonhardt H.
J. Cell. Biochem.106:521-528(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: HOMODIMERIZATION
26.

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
Sci. Signal.2:RA46-RA46(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-127;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Leukemic T-cell.
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-173; LYS-1111; LYS-1113 AND LYS-1115;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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-394 AND SER-714;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
29.

"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]
30.

"Phosphorylation of human DNMT1: implication of cyclin-dependent kinases."
Lavoie G. , St-Pierre Y.
Biochem. Biophys. Res. Commun.409:187-192(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 AT SER-154
31.

"SIRT1 deacetylates the DNA methyltransferase 1 (DNMT1) protein and alters its activities."
Peng L. , Yuan Z. , Ling H. , Fukasawa K. , Robertson K. , Olashaw N. , Koomen J. , Chen J. , Lane W.S. , Seto E.
Mol. Cell. Biol.31:4720-4734(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: ACETYLATION AT LYS-160; LYS-188; LYS-259; LYS-366; LYS-749; LYS-891; LYS-957; LYS-961; LYS-975; LYS-1054; LYS-1111; LYS-1113; LYS-1115; LYS-1117; LYS-1349 AND LYS-1415;DEACETYLATION BY SIRT1
32.

"A methylation and phosphorylation switch between an adjacent lysine and serine determines human DNMT1 stability."
Esteve P.O. , Chang Y. , Samaranayake M. , Upadhyay A.K. , Horton J.R. , Feehery G.R. , Cheng X. , Pradhan S.
Nat. Struct. Mol. Biol.18:42-48(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: METHYLATION AT LYS-142;PHOSPHORYLATION AT SER-143
33.

"The USP7/Dnmt1 complex stimulates the DNA methylation activity of Dnmt1 and regulates the stability of UHRF1."
Felle M. , Joppien S. , Nemeth A. , Diermeier S. , Thalhammer V. , Dobner T. , Kremmer E. , Kappler R. , Langst G.
Nucleic Acids Res.39:8355-8365(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: INTERACTION WITH USP7 AND UHRF1
34.

"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-127; SER-133 AND SER-714;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
35.

"The replication focus targeting sequence (RFTS) domain is a DNA-competitive inhibitor of Dnmt1."
Syeda F. , Fagan R.L. , Wean M. , Avvakumov G.V. , Walker J.R. , Xue S. , Dhe-Paganon S. , Brenner C.
J. Biol. Chem.286:15344-15351(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: X-RAY CRYSTALLOGRAPHY (2.31 ANGSTROMS) OF 351-600 IN COMPLEX WITH ZINC IONS
36.

"Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation."
Song J. , Rechkoblit O. , Bestor T.H. , Patel D.J.
Science331:1036-1040(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: X-RAY CRYSTALLOGRAPHY (3.6 ANGSTROMS) OF 646-1600 IN COMPLEX WITH SAH AND DNA;AUTOINHIBITORY LINKER
37.

"Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss."
Klein C.J. , Botuyan M.V. , Wu Y. , Ward C.J. , Nicholson G.A. , Hammans S. , Hojo K. , Yamanishi H. , Karpf A.R. , Wallace D.C. , Simon M. , Lander C. , Boardman L.A. , Cunningham J.M. , Smith G.E. , Litchy W.J. , Boes B. , Atkinson E.J. , more...
Nat. Genet.43:595-600(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: VARIANTS HSN1E 490-GLU-TYR-491 AND CYS-495;CHARACTERIZATION OF VARIANTS HSN1E 490-GLU-TYR-491 AND CYS-495
38.

"Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy."
Winkelmann J. , Lin L. , Schormair B. , Kornum B.R. , Faraco J. , Plazzi G. , Melberg A. , Cornelio F. , Urban A.E. , Pizza F. , Poli F. , Grubert F. , Wieland T. , Graf E. , Hallmayer J. , Strom T.M. , Mignot E.
Hum. Mol. Genet.21:2205-2210(2012) [PubMed] [Europe PMC] [Abstract]

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