186 related articles for article (PubMed ID: 29431277)
1. MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Sheikh TI; Harripaul R; Ayub M; Vincent JB
Hum Mutat; 2018 May; 39(5):717-728. PubMed ID: 29431277
[TBL] [Abstract][Full Text] [Related]
2. MeCP2 Rett mutations affect large scale chromatin organization.
Agarwal N; Becker A; Jost KL; Haase S; Thakur BK; Brero A; Hardt T; Kudo S; Leonhardt H; Cardoso MC
Hum Mol Genet; 2011 Nov; 20(21):4187-95. PubMed ID: 21831886
[TBL] [Abstract][Full Text] [Related]
3. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L; Fichera M; Failla P; Di Marco C; Grozeva D; Mencarelli MA; Spiga O; Mari F; Meloni I; Raymond L; Renieri A; Romano C; Ariani F
J Hum Genet; 2016 Feb; 61(2):95-101. PubMed ID: 26490184
[TBL] [Abstract][Full Text] [Related]
4. Sequence-specific DNA binding by AT-hook motifs in MeCP2.
Lyst MJ; Connelly J; Merusi C; Bird A
FEBS Lett; 2016 Sep; 590(17):2927-33. PubMed ID: 27461740
[TBL] [Abstract][Full Text] [Related]
5. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.
Kumar A; Kamboj S; Malone BM; Kudo S; Twiss JL; Czymmek KJ; LaSalle JM; Schanen NC
J Cell Sci; 2008 Apr; 121(Pt 7):1128-37. PubMed ID: 18334558
[TBL] [Abstract][Full Text] [Related]
6. From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Sheikh TI; Ausió J; Faghfoury H; Silver J; Lane JB; Eubanks JH; MacLeod P; Percy AK; Vincent JB
Sci Rep; 2016 Dec; 6():38590. PubMed ID: 27929079
[TBL] [Abstract][Full Text] [Related]
7. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Olson HE; Tambunan D; LaCoursiere C; Goldenberg M; Pinsky R; Martin E; Ho E; Khwaja O; Kaufmann WE; Poduri A
Am J Med Genet A; 2015 Sep; 167A(9):2017-25. PubMed ID: 25914188
[TBL] [Abstract][Full Text] [Related]
8. A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N; Hsairi I; Kifagi C; Ellouze E; Mkaouar-Rebai E; Triki C; Fakhfakh F;
Biochem Biophys Res Commun; 2011 Jun; 409(2):270-4. PubMed ID: 21575601
[TBL] [Abstract][Full Text] [Related]
9. Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.
Tillotson R; Selfridge J; Koerner MV; Gadalla KKE; Guy J; De Sousa D; Hector RD; Cobb SR; Bird A
Nature; 2017 Oct; 550(7676):398-401. PubMed ID: 29019980
[TBL] [Abstract][Full Text] [Related]
10. A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.
Fendri-Kriaa N; Abdelkafi Z; Rebeh IB; Kamoun F; Triki C; Fakhfakh F
Genet Test Mol Biomarkers; 2009 Feb; 13(1):109-13. PubMed ID: 19309283
[TBL] [Abstract][Full Text] [Related]
11. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
Amano K; Nomura Y; Segawa M; Yamakawa K
J Hum Genet; 2000; 45(4):231-6. PubMed ID: 10944854
[TBL] [Abstract][Full Text] [Related]
12. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Schönewolf-Greulich B; Tejada MI; Stephens K; Hadzsiev K; Gauthier J; Brøndum-Nielsen K; Pfundt R; Ravn K; Maortua H; Gener B; Martínez-Bouzas C; Piton A; Rouleau G; Clayton-Smith J; Kleefstra T; Bisgaard AM; Tümer Z
Clin Genet; 2016 Jun; 89(6):733-8. PubMed ID: 26936630
[TBL] [Abstract][Full Text] [Related]
13. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.
Buschdorf JP; Strätling WH
J Mol Med (Berl); 2004 Feb; 82(2):135-43. PubMed ID: 14618241
[TBL] [Abstract][Full Text] [Related]
14. Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin.
Hansen JC; Ghosh RP; Woodcock CL
IUBMB Life; 2010 Oct; 62(10):732-8. PubMed ID: 21031501
[TBL] [Abstract][Full Text] [Related]
15. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Lambert S; Maystadt I; Boulanger S; Vrielynck P; Destrée A; Lederer D; Moortgat S
Eur J Med Genet; 2016 Oct; 59(10):522-5. PubMed ID: 27465203
[TBL] [Abstract][Full Text] [Related]
16. MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?
Chadwick LH; Wade PA
Curr Opin Genet Dev; 2007 Apr; 17(2):121-5. PubMed ID: 17317146
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
Raizis AM; Saleem M; MacKay R; George PM
N Z Med J; 2009 Jun; 122(1296):21-8. PubMed ID: 19652677
[TBL] [Abstract][Full Text] [Related]
18. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
Khajuria R; Gupta N; Sapra S; Gulati S; Ghosh M; Kalra V; Kabra M
Brain Dev; 2012 Jan; 34(1):28-31. PubMed ID: 21300488
[TBL] [Abstract][Full Text] [Related]
19. [Clinical features and MECP2 mutations in children with Rett syndrome].
Zhao PW; He XL; Lin J; Wu GF; Yue X; Bi B; Hu JS; Liu ZS
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Apr; 16(4):393-6. PubMed ID: 24750837
[TBL] [Abstract][Full Text] [Related]
20. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D; Lelkova P; Gregor V; Magner M; Zeman J; Martasek P
J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]