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Structural variation of chromosomes in autism spectrum disorder.
Functional impact of global rare copy number variation in autism spectrum disorders
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
A genome-wide scan for common alleles affecting risk for autism
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Peptidyl argininedeiminase 2 CpG island in multiple sclerosis white matter is hypomethylated
- F. Mastronardi, A. Noor, D. Wood, T. Paton, M. Moscarello
- Biology, ChemistryJournal of neuroscience research
- 1 July 2007
It is shown that methylation of cytosine of the PAD2 promoter in DNA from MS NAWM was decreased to one‐third of the level of that inDNA from normal white matter, which may explain the increased synthesis of P AD2 protein that is responsible for the increased amount of citrullinated MBP, which in turn results in loss of myelin stability in MS brain.
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
Genetic analysis in thousands of patients and control subjects suggests that the PTCHD1 gene may be part of the Hedgehog signaling pathway, which is important in embryonic development, and suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder are identified and these deletions are linked to autism.