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Biochimica del cervello

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Scritto da Nature Genetics   
BiochimicaElise Robinson, Mark Daly and colleagues present an analysis of genetic data from autism spectrum disorder (ASD) and population-based studies and find evidence for genetic correlations between ASDs and typical variation in social behavior and communi ... ...
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Scritto da Nature Genetics   
BiochimicaChiea Chuen Khor, Tin Aung and colleagues report the results of a large genome-wide association study of primary angle closure glaucoma. They identify five new susceptibility loci and provide insights into disease pathogenesis. ... ...
Mosaic loss of chromosome Y is associated with common variation near TCL1A
Scritto da Nature Genetics   
BiochimicaMeredith Yeager, Stephen Chanock and colleagues analyze mosaic loss of the Y chromosome in three prospective cohorts and observe association with age and smoking but not with cancer survival. They also identify common variation at TCL1A associated wi ... ...
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
Scritto da Nature Genetics   
BiochimicaHiroyuki Mano and colleagues report fusions involving DUX4 in 16.4% of Ph-negative adolescent and young adult acute lymphoblastic leukemia (AYA-ALL) cases. Transplantation assays in mice support an oncogenic role for the DUX4-IGH fusion gene, which e ... ...
Cis-regulatory architecture of a brain signaling center predates the origin of chordates
Scritto da Nature Genetics   
BiochimicaDouglas Epstein and colleagues use de novo motif analysis to identify sequence motifs and cognate transcription factors for brain enhancers of Shh active in the zona limitans intrathalamica (zli). They find new zli enhancers in mice and a functional ... ...
A role for the bacterial GATC methylome in antibiotic stress survival
Scritto da Nature Genetics   
BiochimicaJames Collins and colleagues explore the role of the bacterial epigenome in antibiotic stress survival. They find that Escherichia coli survival under antibiotic pressure is strongly compromised in the absence of adenine methylation at GATC sites, su ... ...
Human genetics: Loss-of-function variants not always what they seem
Scritto da Nature Reviews: Genetics   
BiochimicaA new human population genomics study leverages family relatedness to identify and characterize homozygous loss-of-function mutations, with implications for interpreting disease-associated genetic variants.The consequences of gene knockouts have been ... ...
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