M
Mimi Wan
Researcher at Stanford University
Publications - 4
Citations - 5118
Mimi Wan is an academic researcher from Stanford University. The author has contributed to research in topics: MECP2 & Frameshift mutation. The author has an hindex of 4, co-authored 4 publications receiving 4796 citations.
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Journal ArticleDOI
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,Charles Q. Tran,Uta Francke,Huda Y. Zoghbi +5 more
TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Journal ArticleDOI
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Mimi Wan,Stephen Sung Jae Lee,Xianyu Zhang,Isa Houwink-Manville,Hae Ri Song,Ruthie E. Amir,Sarojini S. Budden,Sakku Bai Naidu,Jose Luiz Pinto Pereira,Ivan F M Lo,Huda Y. Zoghbi,N. Carolyn Schanen,Uta Francke +12 more
TL;DR: Some males with RTT-causing MECP2 mutations may survive to birth, and female heterozygotes with favorably skewed X-inactivation patterns may have little or no involvement.
Journal ArticleDOI
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
TL;DR: Exposure to mutant MeCP2 expression and global histone acetylation levels in clonal cell cultures from a female RTT patient with the mutant R168X allele on the active X chromosome, as well as in cells from a male hemizygous for the frameshift mutation 803delG (V288X) is examined to study the effects of two common truncating RTT mutations.
Journal ArticleDOI
Spectrum of MECP2 mutations in Rett syndrome.
TL;DR: 18 additional mutations in the methyl-CpG-binding protein 2 gene (MECP2) are presented, including 13 single nucleotide substitutions, all of which are C-->T transitions at CpG hot spots.