Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
By M. G. Butler, Dasouki Mj, Xiao Ping Zhou, Z. Talebizadeh, Myles Brown, Takahashi Tn, J. Miles, C. H. Wang, R. Stratton, R. Pilarski and 1 more. Journal of Medical Genetics, 2005
778 citations recorded by the source corpus.
Subfields: Cognitive Neuroscience, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/7eb6f8178275627cd9e3ed4c744aa00635e413c1
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Cognitive Neuroscience
- Mark F. Bear
- Yanjiao Li
- C. Kwon
- Suzanne J. Baker
- Jing Zhou
- L. Parada
- Craig M. Powell
- Bryan W. Luikart
In Molecular Biology
- T. Franke
- R. J. Kelleher
- Brian J. O'Roak
- Suzanne J. Baker
- Evan E. Eichler
- Mark F. Bear
- Jay Shendure
- Osnat Penn
Citations in the corpus
- Lifetime Cancer Risks in Individuals with Germline PTEN Mutations (2012, background): “Over this period, this study identified additional key features of PHTS, particularly polyposis (6) and autism (7, 8), which were eventually included in the operational criteria.”
- Disruptive CHD8 mutations define a subtype of autism early in development (2014, background): “Mutations in PTEN are associated with severe macrocephaly and ASD (Butler et al., 2005), as is the 16p11.”
- The autistic neuron: troubled translation? (2008, background): “Macrocephaly occurs in up to 20% of ASD cases, and PTEN mutations have been identified in ~5% of ASD patients with macrocephaly (e.g., Butler et al., 2005).”
- PI3K/Akt: getting it right matters (2008, background): “Individuals with macrocephaly due to Lhermitte–Duclos disease are prone to ASD and show a pronounced incidence of mutations in the PTEN tumor suppressor gene (Butler et al., 2005).”
- Pten regulates neuronal arborization and social interaction in mice. (2006, positive): “Finally, the recent preliminary association of PTEN mutations in ASD with macrocephaly (Butler et al., 2005) further points to abnormal activation of the PI3K pathway as one possible etiology.”
- Dendritic spine pathology in neuropsychiatric disorders (2011, background): “Individuals with mutations of tuberous sclerosis proteins 1 and 2 ( TSC1 , TSC2 ) or the phosphatase and tensin homolog ( PTEN ) gene, which causes macroencephaly, are frequently diagnosed with autis”