MECP2 CLIA Kit for Human(Homo sapiens) | EIAab.comMECP2 CLIA Kit for Human(Homo sapiens)

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MECP2 (Gene name),

Methyl-CpG-binding protein 2 (Protein name ), MECP2_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

MECP2;

Protein name:

Methyl-CpG-binding protein 2(MeCp-2 protein;MeCp2);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with FNBP3 (By similarity). Interacts with CDKL5.

Function:

Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.

Subcellular Location:

Nucleus Colocalized with methyl-CpG in the genome.

Protein Attributes:

Sequence length:

486

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

486:

KHRGEGERKD | IVSSSMPRPN | REEPVDSRTP | VTERVS

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

105830

Pfam:

PF01429

SMR:

P51608

UniGene:

Hs.200716

String:

P51608

KEGG:

hsa:4204

STRING:

9606.ENSP00000395535

Uniprot:

P51608

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ELISA Kit for Human MeCp-2 protein

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E15238r

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96T

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ELISA Kit for Human MeCp-2 protein

Cat.:

E15238h

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96T

ELISA Kit for Human MeCp-2 protein

Cat.:

E15238m

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96T

CLIA Kit for Human MeCp-2 protein

Cat.:

U15238r

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MSDS:

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96T

CLIA Kit for Human MeCp-2 protein

Cat.:

U15238h

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MSDS:

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Packing:

96T

CLIA Kit for Human MeCp-2 protein

Cat.:

U15238m

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96T

Polyclonal Antibody for Human MeCp-2 protein

Cat.:

P15238Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human MeCp-2 protein

Cat.:

P15238Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human MeCp-2 protein

Cat.:

P15238Rb-r

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40ug/0.2ml

Monoclonal Antibody for Human MeCp-2 protein

Protein for Human MeCp-2 protein

R&D Technical Data

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

Precision

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Recovery

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Linearity

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References

1.

"Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated."
Kudo S.
Mol. Cell. Biol.18:5492-5499(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)
2.

"Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization."
Vilain A. , Apiou F. , Vogt N. , Dutrillaux B. , Malfoy B.
Cytogenet. Cell Genet.74:293-294(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)
3.

"A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression."
Coy J.F. , Sedlacek Z. , Baechner D. , Delius H. , Poustka A.
Hum. Mol. Genet.8:1253-1262(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)
4.

"Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions."
Reichwald K. , Thiesen J. , Wiehe T. , Weitzel J. , Poustka W.A. , Rosenthal A. , Platzer M. , Stratling W.H. , Kioschis P.
Mamm. Genome11:182-190(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)
5.

"A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome."
Mnatzakanian G.N. , Lohi H. , Munteanu I. , Alfred S.E. , Yamada T. , MacLeod P.J.M. , Jones J.R. , Scherer S.W. , Schanen N.C. , Friez M.J. , Vincent J.B. , Minassian B.A.
Nat. Genet.36:339-341(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 [MRNA] (ISOFORM B);INVOLVEMENT IN RTT
6.

Straetling W.H.
Submitted (1997-04) 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 [MRNA] (ISOFORM A)
tissue: Placenta.
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 B)
tissue: Colon endothelium.
8.

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
Nature434:325-337(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.

"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 A)
tissue: Placenta.
10.

"Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2."
D'Esposito M. , Quaderi N.A. , Ciccodicola A. , Bruni P. , Esposito T. , D'Urso M. , Brown S.D.M.
Mamm. Genome7:533-535(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: NUCLEOTIDE SEQUENCE [MRNA] OF 10-486 (ISOFORM A)
tissue: Skeletal muscle.
11.

"Genetic organization of human methyl-CpG-binding protein 2."
Reichwald K. , Bauer D. , Brenner V. , Drescher B. , Coy J.F. , Kioschis P. , Korn B. , Nyakatura G. , Platzer M. , Poustka A. , Sandoval N. , Rosenthal A.
Submitted (1996-12) 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 10-486 (ISOFORM A)
12.

"The major form of MeCP2 has a novel N-terminus generated by alternative splicing."
Kriaucionis S. , Bird A.
Nucleic Acids Res.32:1818-1823(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: IDENTIFICATION (ISOFORM B)
13.

"Mutations and polymorphisms in the human methyl CpG-binding protein MECP2."
Miltenberger-Miltenyi G. , Laccone F.
Hum. Mutat.22:107-115(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: REVIEW ON VARIANTS
14.

"CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome."
Mari F. , Azimonti S. , Bertani I. , Bolognese F. , Colombo E. , Caselli R. , Scala E. , Longo I. , Grosso S. , Pescucci C. , Ariani F. , Hayek G. , Balestri P. , Bergo A. , Badaracco G. , Zappella M. , Broccoli V. , Renieri A. , more...
Hum. Mol. Genet.14:1935-1946(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: INTERACTION WITH CDKL5
15.

"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
16.

"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
Carrascal M. , Ovelleiro D. , Casas V. , Gay M. , Abian J.
J. Proteome Res.7:5167-5176(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: T-cell.
17.

"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-80; SER-116 AND SER-426;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
18.

"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]
19.

"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-80;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Leukemic T-cell.
20.

"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-449;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
21.

"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-80 AND SER-216;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
22.

"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-80;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
23.

"The solution structure of the domain from MeCP2 that binds to methylated DNA."
Wakefield R.I. , Smith B.O. , Nan X. , Free A. , Soteriou A. , Uhrin D. , Bird A.P. , Barlow P.N.
J. Mol. Biol.291:1055-1065(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: STRUCTURE BY NMR OF 77-166
24.

"Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots."
Wan M. , Lee S.S.J. , Zhang X. , Houwink-Manville I. , Song H.-R. , Amir R.E. , Budden S. , Naidu S. , Pereira J.L.P. , Lo I.F.M. , Zoghbi H.Y. , Schanen N.C. , Francke U.
Am. J. Hum. Genet.65:1520-1529(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 RTT TRP-106; CYS-133; SER-155; MET-158 AND CYS-306;VARIANT LYS-397
25.

"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2."
Amir R.E. , Van den Veyver I.B. , Wan M. , Tran C.Q. , Francke U. , Zoghbi H.Y.
Nat. Genet.23:185-188(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 RTT TRP-106; CYS-133; SER-155 AND MET-158
26.

"A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males."
Meloni I. , Bruttini M. , Longo I. , Mari F. , Rizzolio F. , D'Adamo P. , Denvriendt K. , Fryns J.-P. , Toniolo D. , Renieri A.
Am. J. Hum. Genet.67:982-985(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: INVOLVEMENT IN MRXS13
27.

"Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms."
Buyse I.M. , Fang P. , Hoon K.T. , Amir R.E. , Zoghbi H.Y. , Roa B.B.
Am. J. Hum. Genet.67:1428-1436(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 RTT VAL-100; GLN-106; TRP-106; CYS-133; ARG-152; SER-155; MET-158; ARG-305; CYS-306 AND HIS-306;VARIANTS CYS-86; MET-203; PRO-287; ALA-291; LYS-397; ILE-412 AND THR-444
28.

"MECP2 mutation in male patients with non-specific X-linked mental retardation."
Orrico A. , Lam C. , Galli L. , Dotti M.T. , Hayek G. , Tong S.F. , Poon P.M. , Zappella M. , Federico A. , Sorrentino V.
FEBS Lett.481:285-288(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 MRXS13 VAL-140;VARIANT MET-203
29.

"Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location."
Cheadle J.P. , Gill H. , Fleming N. , Maynard J. , Kerr A. , Leonard H. , Krawczak M. , Cooper D.N. , Lynch S. , Thomas N. , Hughes H. , Hulten M. , Ravine D. , Sampson J.R. , Clarke A.
Hum. Mol. Genet.9:1119-1129(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 RTT LEU-101; HIS-101; THR-101; TRP-106; CYS-133; CYS-134; ARG-152; MET-158; ARG-225; LEU-302; CYS-306 AND HIS-306;VARIANTS LEU-229 AND THR-439
30.

"MECP2 mutations account for most cases of typical forms of Rett syndrome."
Bienvenu T. , Carrie A. , de Roux N. , Vinet M.-C. , Jonveaux P. , Couvert P. , Villard L. , Arzimanoglou A. , Beldjord C. , Fontes M. , Tardieu M. , Chelly J.
Hum. Mol. Genet.9:1377-1384(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 RTT GLN-106; MET-158; ARG-302; CYS-306 AND ALA-322
31.

"Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome."
Amano K. , Nomura Y. , Segawa M. , Yamakawa K.
J. Hum. Genet.45:231-236(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 RTT MET-158; HIS-302 AND CYS-306;VARIANTS VAL-201; ALA-232; LEU-251 AND SER-376
32.

"Mutation screening in Rett syndrome patients."
Xiang F. , Buervenich S. , Nicolao P. , Bailey M.E. , Zhang Z. , Anvret M.
J. Med. Genet.37:250-255(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 RTT GLU-97; TRP-106; CYS-133; ILE-155; MET-158 AND CYS-306
33.

"Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome."
Obata K. , Matsuishi T. , Yamashita Y. , Fukuda T. , Kuwajima K. , Horiuchi I. , Nagamitsu S. , Iwanaga R. , Kimura A. , Omori I. , Endo S. , Mori K. , Kondo I.
J. Med. Genet.37:608-610(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 RTT TRP-106; PHE-124; CYS-133; CYS-134; ARG-152; MET-158 AND CYS-306
34.

"Mutations in the MECP2 gene in a cohort of girls with Rett syndrome."
Hampson K. , Woods C.G. , Latif F. , Webb T.
J. Med. Genet.37:610-612(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 RTT ARG-101; TRP-106; MET-158 AND CYS-306;VARIANT LYS-397
35.

"Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation."
Armstrong J. , Poo P. , Pineda M. , Aibar E. , Gean E. , Catala V. , Monros E.
Ann. Neurol.50:692-692(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: VARIANT RTT HIS-133
36.

"Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome."
Inui K. , Akagi M. , Ono J. , Tsukamoto H. , Shimono K. , Mano T. , Imai K. , Yamada M. , Muramatsu T. , Sakai N. , Okada S.
Brain Dev.23:212-215(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 RTT ASP-120; CYS-133; MET-158 AND CYS-306
37.

"Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation."
Giunti L. , Pelagatti S. , Lazzerini V. , Guarducci S. , Lapi E. , Coviello S. , Cecconi A. , Ombroni L. , Andreucci E. , Sani I. , Brusaferri A. , Lasagni A. , Ricotti G. , Giometto B. , Nicolao P. , Gasparini P. , Granatiero M. , Giovannucci Uzielli M.L.
Brain Dev.23:S242-S245(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 RTT TRP-106; CYS-134; ARG-152; MET-158; ALA-302; CYS-306 AND ALA-322;VARIANTS VAL-201 AND LYS-397
38.

"MECP2 is highly mutated in X-linked mental retardation."
Couvert P. , Bienvenu T. , Aquaviva C. , Poirier K. , Moraine C. , Gendrot C. , Verloes A. , Andres C. , Le Fevre A.C. , Souville I. , Steffann J. , des Portes V. , Ropers H.-H. , Yntema H.G. , Fryns J.-P. , Briault S. , Chelly J. , Cherif B.
Hum. Mol. Genet.10:941-946(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 MRXS13 GLY-137; VAL-140; TRP-167; GLU-284; LEU-399 AND GLN-453
39.

"Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions."
Laccone F. , Huppke P. , Hanefeld F. , Meins M.
Hum. Mutat.17:183-190(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 RTT TRP-106; GLY-111; CYS-133; GLU-135; ARG-152; GLY-156; MET-158; ILE-210; ARG-302 AND CYS-306
40.

"Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein."
Watson P. , Black G. , Ramsden S. , Barrow M. , Super M. , Kerr B. , Clayton-Smith J.
J. Med. Genet.38:224-228(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: VARIANT RTT ARG-101;INVOLVEMENT IN AS
41.

"MECP2 mutation in non-fatal, non-progressive encephalopathy in a male."
Imessaoudene B. , Bonnefont J.-P. , Royer G. , Cormier-Daire V. , Lyonnet S. , Lyon G. , Munnich A. , Amiel J.
J. Med. Genet.38:171-174(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: VARIANT ENS-MECP2 SER-428
42.

"Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females."
Vacca M. , Filippini F. , Budillon A. , Rossi V. , Mercadante G. , Manzati E. , Gualandi F. , Bigoni S. , Trabanelli C. , Pini G. , Calzolari E. , Ferlini A. , Meloni I. , Hayek G. , Zappella M. , Renieri A. , D'Urso M. , D'Esposito M. , more...
J. Mol. Med.78:648-655(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 RTT SER-101; TRP-106; CYS-133; CYS-134; ARG-152; ALA-158 AND MET-158
43.

"MeCP2 mutations in children with and without the phenotype of Rett syndrome."
Hoffbuhr K. , Devaney J.M. , LaFleur B. , Sirianni N. , Scacheri C. , Giron J. , Schuette J. , Innis J. , Marino M. , Philippart M. , Narayanan V. , Umansky R. , Kronn D. , Hoffman E.P. , Naidu S.
Neurology56:1486-1495(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 RTT TYR-97; TRP-106; HIS-133; CYS-133; ARG-152; MET-158; ARG-305; CYS-306 AND LEU-322;VARIANT MET-197
44.

"A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome."
Klauck S.M. , Lindsay S. , Beyer K.S. , Splitt M. , Burn J. , Poustka A.
Am. J. Hum. Genet.70:1034-1037(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 MRXS13 VAL-140
45.

"Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling."
Moncla A. , Kpebe A. , Missirian C. , Mancini J. , Villard L.
Eur. J. Hum. Genet.10:86-89(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 PRO-359 AND LYS-397
46.

"Low frequency of MECP2 mutations in mentally retarded males."
Yntema H.G. , Kleefstra T. , Oudakker A.R. , Romein T. , de Vries B.B.A. , Nillesen W. , Sistermans E.A. , Brunner H.G. , Hamel B.C.J. , van Bokhoven H.
Eur. J. Hum. Genet.10:487-490(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 SER-196; SER-228; LYS-394 AND SER-480
47.

"Mutation analysis of the coding sequence of the MECP2 gene in infantile autism."
Beyer K.S. , Blasi F. , Bacchelli E. , Klauck S.M. , Maestrini E. , Poustka A.
Hum. Genet.111:305-309(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 VAL-181; SER-376; PRO-388 DEL AND LEU-402
48.

"Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?"
Winnepenninckx B. , Errijgers V. , Hayez-Delatte F. , Reyniers E. , Kooy R.F.
Hum. Mutat.20:249-252(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 MRXS13 VAL-140
49.

"MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution."
Laccone F. , Zoll B. , Huppke P. , Hanefeld F. , Pepinski W. , Trappe R.
J. Med. Genet.39:586-588(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 MRXS13 VAL-140;VARIANT RTT TRP-344;VARIANTS MET-197; SER-376; LEU-399 AND SER-428;DISCUSSION OF PATHOGENIC ROLE
50.

"A Rett syndrome MECP2 mutation that causes mental retardation in men."
Dotti M.T. , Orrico A. , De Stefano N. , Battisti C. , Sicurelli F. , Severi S. , Lam C.-W. , Galli L. , Sorrentino V. , Federico A.
Neurology58:226-230(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 MRXS13 VAL-140
51.

"Mutation analysis of the MECP2 gene in patients with Rett syndrome."
Conforti F.L. , Mazzei R. , Magariello A. , Patitucci A.L. , Gabriele A.L. , Muglia M. , Quattrone A. , Fiumara A. , Pavone L. , Barone R. , Nistico R. , Mangone L.
Am. J. Med. Genet. A117:184-187(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 RTT CYS-133; MET-158 AND CYS-306;VARIANTS SER-376 AND SER-388
52.

"Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation."
Hammer S. , Dorrani N. , Hartiala J. , Stein S. , Schanen N.C.
Am. J. Med. Genet. A122:223-226(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 RTT VAL-100
53.

"Rett syndrome in adolescent and adult females: clinical and molecular genetic findings."
Smeets E. , Schollen E. , Moog U. , Matthijs G. , Herbergs J. , Smeets H. , Curfs L. , Schrander-Stumpel C. , Fryns J.-P.
Am. J. Med. Genet. A122:227-233(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 RTT GLN-10; PRO-128; CYS-133; ARG-152; MET-158 AND CYS-306
54.

"Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)."
Moog U. , Smeets E.E.J. , van Roozendaal K.E.P. , Schoenmakers S. , Herbergs J. , Schoonbrood-Lenssen A.M.J. , Schrander-Stumpel C.T.R.M.
Eur. J. Paediatr. Neurol.7:5-12(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 MRXS13 LEU-225
55.

"Identification of MeCP2 mutations in a series of females with autistic disorder."
Carney R.M. , Wolpert C.M. , Ravan S.A. , Shahbazian M. , Ashley-Koch A. , Cuccaro M.L. , Vance J.M. , Pericak-Vance M.A.
Pediatr. Neurol.28:205-211(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: INVOLVEMENT IN AUTSX3
56.

"Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome."
Schanen C. , Houwink E.J.F. , Dorrani N. , Lane J. , Everett R. , Feng A. , Cantor R.M. , Percy A.
Am. J. Med. Genet. A126:129-140(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 RTT ARG-100; VAL-100; TRP-106; CYS-133; ARG-152; ALA-158; MET-158; VAL-161; CYS-306 AND HIS-306
57.

"Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males."
Van Esch H. , Bauters M. , Ignatius J. , Jansen M. , Raynaud M. , Hollanders K. , Lugtenberg D. , Bienvenu T. , Jensen L.R. , Gecz J. , Moraine C. , Marynen P. , Fryns J.-P. , Froyen G.
Am. J. Hum. Genet.77:442-453(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: INVOLVEMENT IN MRXSL
58.

"A novel familial MECP2 mutation in a young boy: clinical and molecular findings."
Ventura P. , Galluzzi R. , Bacca S.M. , Giorda R. , Massagli A.
Neurology67:867-868(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 MRXS13 SER-322
59.

"Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation."
Nan X. , Hou J. , Maclean A. , Nasir J. , Lafuente M.J. , Shu X. , Kriaucionis S. , Bird A.
Proc. Natl. Acad. Sci. U.S.A.104:2709-2714(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: CHARACTERIZAION OF VARIANT RTT CYS-133;CHARACTERIZAION OF VARIANT MRXS13 VAL-140

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