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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang, Ruthie E. Amir, Sarojini Budden, Sakkubai Naidu, José Luiz Pinto Pereira, Ivan F. M. Lo, Huda Y. Zoghbi, N. Carolyn Schanen,

The American Journal of Human Genetics · 1999 · 518 citations · 47 references

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47

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

, , +9

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

En Li, Timothy H. Bestor, Rudolf Jaenisch · Cell · 1992 · 4K citations

, , +14

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

Xinsheng Nan, Huck‐Hui Ng, Colin A. Johnson et al. · Nature · 1998 · 3.4K citations

, , +16

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

Peter Lloyd Jones, Gert Jan C. Veenstra, Paul A. Wade et al. · Nature Genetics · 1998 · 2.7K citations

, , +10

Role for DNA methylation in genomic imprinting

Rudolf Jaenisch · Nature · 1993 · 2K citations

, , +14