Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

By H. Van Esch, Marijke Bauters, J. Ignatius, M. Jansen, M. Raynaud, K. Hollanders, D. Lugtenberg, T. Bienvenu, L. Jensen, J. Gécz and 4 more. American Journal of Human Genetics, 2005

659 citations recorded by the source corpus.

Subfields: Electrical and Electronic Engineering, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/6b5ea75c22b000de02eb2d213a62fa1569bea7a1

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Feng Zhang
2. W. Gu
3. J. R. Lupski
4. Mark F. Bear
5. H. Zoghbi
6. C. Carvalho
7. Maria H. Chahrour
8. Gene W. Yeo

In Molecular Biology

1. Fred H. Gage
2. J. R. Lupski
3. Feng Zhang
4. W. Gu
5. H. Zoghbi
6. Mark F. Bear
7. M. Marchetto
8. Maria H. Chahrour

Citations in the corpus

• Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “Males typically have hypotonia and developmental delay, manifesting first as autism then progressing to severe motor and cognitive impairments, epilepsy, tremors, RTT-like features, and premature lethality (Van Esch et al. 2005; Ramocki et al. 2009).”
• Mechanisms for human genomic rearrangements (2008, background): “Array CGH data on several other genomic regions, including the SMS/PTLS locus [50,84] (Lupski Lab, manuscript in preparation) and the MECP2 locus [85-88] have confirmed the complex nature of many other non-recurrent rearrangements, some of which were thought to be simple One Pelizaeus-Merzbacher dis”
• A model for neural development and treatment of Rett Syndrome using human induced pluripotent stem cells (2010, background): “WT allele can be as harmful as a loss of expression (Collins et al., 2004; Ramocki et al., 2009; Van Esch et al., 2005).”
• The story of Rett syndrome: from clinic to neurobiology. (2007, positive): “In addition, autistic features and RTT phenotypes, including head growth de-celeration, motor delay, ataxia, hand stereotypies, teeth grinding, and absence of speech, have been reported in these boys (Friez et al., 2006; Lugtenberg et al., 2006; Meins et al., 2005; Van Esch et al., 2005).”
• A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “These include: MECP2 duplications (del Gaudio et al., 2006; Meins et al., 2005; Van Esch et al., 2005) and triplications (del Gaudio et al., 2006) (Figure S4) causing mental retardation and seizures in males, APP duplications associated with Alzheimer’s disease (Cabrejo et al., 2006; Rovelet-Lecrux ”