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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 autism risk loci using genetic linkage and chromosomal rearrangements
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Mammographic breast density as an intermediate phenotype for breast cancer.
Evidence is presented that mammographic density is a strong risk factor for breast cancer, and that risk of breast cancer is four to five times greater in women with density in more than 75% of the breast than in Women with little or no density in the breast.
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.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation and were overrepresented among subjects with fragile X syndrome protein targets.
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Six different mutations are identified in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins that is expressed ubiquitously, with several alternatively spliced variants.
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity
Individual common variants exert weak effects on the risk for autism spectrum disorders
Stage 2 of the Autism Genome Project genome-wide association study is reported, adding 1301 ASD families and bringing the total to 2705 families analysed, and it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes
Genetic associations for susceptibility to diabetic nephropathy are identified at two novel candidate loci near the FRMD3 and CARS genes, which implicates previously unsuspected pathways in the pathogenesis of this important late complication of type 1 diabetes.