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A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain
TLDR
It is concluded that DYX1C1 should be regarded as a candidate gene for developmental dyslexia and detailed study of its function may open a path to understanding a complex process of development and maturation of the human brain.
Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in Rheumatoid Arthritis
TLDR
DNA methylation is a potential mediator of genetic risk for rheumatoid arthritis and is corrected for cellular heterogeneity by estimating and adjusting for cell-type proportions in blood-derived DNA samples and used mediation analysis to filter out associations likely to be a consequence of disease.
Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility
TLDR
In healthy male blood donors there is important variation in the methylation profiles of whole blood, mononuclear cells, granulocytes, and cells from seven selected purified lineages, indicating that whole blood methylation results might be unintelligible.
A promoter-level mammalian expression atlas
TLDR
It is found that few genes are truly ‘housekeeping’, whereas many mammalian promoters are composite entities composed of several closely separated TSSs, with independent cell-type-specific expression profiles.
A recurrent mutation in PALB2 in Finnish cancer families
BRCA1, BRCA2 and other known susceptibility genes account for less than half of the detectable hereditary predisposition to breast cancer. Other relevant genes therefore remain to be discovered.
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
TLDR
The results support a disease mechanism in SLE that involves key components of the type I IFN system, and identify SNPs that displayed strong signals in joint analysis of linkage and association with SLE.
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
TLDR
This work reports monoallelic frameshift or missense mutations and one 3′ UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls, and demonstrates that two mutant TREx1 alleles alter subcellular targeting.
The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia
TLDR
It is concluded that dyslexia may be caused by partial haplo-insufficiency for ROBO1 in rare families and a slight disturbance in neuronal axon crossing across the midline between brain hemispheres, dendrite guidance, or another function ofROBO1 may manifest as a specific reading disability in humans.
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction
TLDR
It is concluded that polymorphisms in Mhc2ta and MHC2TA result in differential MHC molecule expression and are associated with susceptibility to common complex diseases with inflammatory components.
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
TLDR
The positional cloning of the gene mutated in EDA is described, which encode a predicted 135–residue transmembrane protein that may belong to a novel class with a role in epithelial–mesenchymal signalling.
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